#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
CRTC1	23373	broad.mit.edu	37	19	18879357	18879357	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:18879357G>A	ENST00000321949.8	+	10	1100	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	CRTC1_ENST00000594658.1_Silent_p.A317A|CRTC1_ENST00000338797.6_Silent_p.A374A|CRTC1_ENST00000601916.1_Intron	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCACCCAGGCGGGCTCCCAGC	0.751																																						ENST00000338797.6																		CRTC1/MAML2(516)	0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						c.(1120-1122)gcG>gcA		CREB regulated transcription coactivator 1							6.0	8.0	7.0					19																	18879357		1998	3958	5956	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18879357G>A	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1074G>A	19.37:g.18879357G>A						CRTC1_ENST00000321949.8_Silent_p.A358A|CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Silent_p.A317A	p.A374A	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN			11	1147	+			358						Silent	SNP	ENST00000321949.8	37	c.1122G>A	CCDS32963.1																																																																																				0.751	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		8	17	0	0	0	1	0	8	17				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	169	0	0	0	1	0	5	169				
EPHB6	2051	broad.mit.edu	37	7	142561054	142561054	+	Silent	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:142561054G>T	ENST00000392957.2	+	5	856	c.69G>T	c.(67-69)ctG>ctT	p.L23L	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.L23L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	23						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TATGGGTGCTGCTCCTGGTGT	0.587																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(67-69)ctG>ctT		EPH receptor B6							87.0	66.0	73.0					7																	142561054		2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561054G>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.69G>T	7.37:g.142561054G>T						EPHB6_ENST00000442129.1_Silent_p.L23L|EPHB6_ENST00000411471.2_Intron	p.L23L	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			5	856	+	Melanoma(164;0.059)		23					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.69G>T	CCDS5873.2																																																																																				0.587	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			9	95	1	0	0.000274275	1	0.00028058	9	95				
SLC4A1AP	22950	broad.mit.edu	37	2	27898498	27898498	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:27898498G>A	ENST00000326019.6	+	6	1727	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	482						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GAGAAGAAGCGTCTGAACAGA	0.398																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(1444-1446)cGt>cAt		solute carrier family 4 (anion exchanger), member 1, adaptor protein							99.0	102.0	101.0					2																	27898498		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27898498G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1445G>A	2.37:g.27898498G>A	ENSP00000323837:p.Arg482His						p.R482H	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			6	1727	+	Acute lymphoblastic leukemia(172;0.155)		482					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.1445G>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	33	5.286038	0.95517	.	.	ENSG00000163798	ENST00000326019	T	0.42131	0.98	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.68952	2.095	0.80722	D	1	D	0.56521	0.976	P	0.53224	0.721	T	0.62282	-0.6887	10	0.87932	D	0	-9.1232	19.0781	0.93171	0.0:0.0:1.0:0.0	.	482	Q9BWU0	NADAP_HUMAN	H	482	ENSP00000323837:R482H	ENSP00000323837:R482H	R	+	2	0	SLC4A1AP	27752002	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.148000	0.94652	2.522000	0.85027	0.555000	0.69702	CGT		0.398	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		52	63	0	0	0	1	0	52	63				
REG1B	5968	broad.mit.edu	37	2	79312681	79312681	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:79312681A>G	ENST00000305089.3	-	5	450	c.370T>C	c.(370-372)Tgg>Cgg	p.W124R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	124	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CCAGTGTCCCAGGACTTGTAG	0.542																																						ENST00000305089.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						c.(370-372)Tgg>Cgg		regenerating islet-derived 1 beta							94.0	85.0	88.0					2																	79312681		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79312681A>G		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.370T>C	2.37:g.79312681A>G	ENSP00000303206:p.Trp124Arg						p.W124R	NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN			5	450	-			124			C-type lectin.			Missense_Mutation	SNP	ENST00000305089.3	37	c.370T>C	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	a	18.24	3.579685	0.65992	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.14266	2.52;2.52	3.59	2.38	0.29361	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.211136	0.24204	N	0.040591	T	0.45637	0.1352	H	0.99238	4.48	0.35630	D	0.81014	P	0.51933	0.949	P	0.57548	0.823	T	0.59478	-0.7447	10	0.87932	D	0	.	6.0382	0.19720	0.7706:0.0:0.0:0.2294	.	124	P48304	REG1B_HUMAN	R	75;124	ENSP00000387410:W75R;ENSP00000303206:W124R	ENSP00000303206:W124R	W	-	1	0	REG1B	79166189	0.995000	0.38212	0.756000	0.31282	0.541000	0.35023	3.149000	0.50655	0.520000	0.28426	0.402000	0.26972	TGG		0.542	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		28	55	0	0	0	1	0	28	55				
TTN	7273	broad.mit.edu	37	2	179456396	179456396	+	Silent	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:179456396T>C	ENST00000591111.1	-	253	55451	c.55227A>G	c.(55225-55227)gtA>gtG	p.V18409V	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.V11177V|TTN_ENST00000342992.6_Silent_p.V17482V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.V11110V|TTN_ENST00000460472.2_Silent_p.V10985V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.V20050V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18409	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGCTTTTACACGGAATC	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60148-60150)gtA>gtG		titin							234.0	220.0	224.0					2																	179456396		1882	4117	5999	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456396T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55227A>G	2.37:g.179456396T>C						TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.V18409V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.V11110V|TTN_ENST00000342992.6_Silent_p.V17482V|TTN_ENST00000342175.6_Silent_p.V11177V|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Silent_p.V10985V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.V20050V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		303	60374	-			18409			Fibronectin type-III 45.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.60150A>G																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	295	0	0	0	1	0	4	295				
CCP110	9738	broad.mit.edu	37	16	19547384	19547384	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:19547384G>A	ENST00000381396.5	+	4	640	c.393G>A	c.(391-393)acG>acA	p.T131T	CCP110_ENST00000396212.2_Silent_p.T131T|CCP110_ENST00000396208.2_Silent_p.T131T	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	131	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAAGCCATACGGAACACTCTA	0.388																																						ENST00000396212.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						c.(391-393)acG>acA		centriolar coiled coil protein 110kDa							75.0	75.0	75.0					16																	19547384		2197	4300	6497	SO:0001819	synonymous_variant	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19547384G>A	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.393G>A	16.37:g.19547384G>A						CCP110_ENST00000396208.2_Silent_p.T131T|CCP110_ENST00000381396.5_Silent_p.T131T	p.T131T	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN			5	829	+			131			CEP97 binding.		B7WP23|O43335|Q68DV9|Q8NE13	Silent	SNP	ENST00000381396.5	37	c.393G>A	CCDS55992.1																																																																																				0.388	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		34	24	0	0	0	1	0	34	24				
FAM92A1P2	403315	broad.mit.edu	37	4	183959228	183959228	+	RNA	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:183959228A>G	ENST00000502308.1	+	0	411					NR_003612.1				family with sequence similarity 92, member A1 pseudogene 2																		AGCTTATGTAACCATTGTAAA	0.413																																						ENST00000502308.1																			0																																																			0							g.chr4:183959228A>G	BC022019		4q35.1	2012-04-19	2012-04-19	2012-04-19	ENSG00000230219	ENSG00000230219			32287	pseudogene	pseudogene			"""family with sequence similarity 92, member A3"""	FAM92A3		12477932	Standard	NR_003612		Approved	MGC71735, MGC102964	uc003ivi.4		OTTHUMG00000160675		4.37:g.183959228A>G								NR_003612.1						0	411	+									RNA	SNP	ENST00000502308.1	37																																																																																						0.413	FAM92A1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361814.1			16	8	0	0	0	1	0	16	8				
PHLDB2	90102	broad.mit.edu	37	3	111685531	111685531	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:111685531C>T	ENST00000431670.2	+	14	3560	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.T541M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T1050M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T1034M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1050						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAGAAAAGACGCGGCTGCTC	0.478																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(3148-3150)aCg>aTg		pleckstrin homology-like domain, family B, member 2							78.0	87.0	84.0					3																	111685531		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111685531C>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3149C>T	3.37:g.111685531C>T	ENSP00000405405:p.Thr1050Met					PHLDB2_ENST00000495180.1_Missense_Mutation_p.T541M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.T1034M|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T1050M|PHLDB2_ENST00000470699.2_3'UTR	p.T1050M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			14	3560	+			1050					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.3149C>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334485	0.41297	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	5.63	5.63	0.86233	.	0.169746	0.53938	D	0.000057	T	0.69922	0.3165	L	0.56769	1.78	0.26667	N	0.971806	P;B;B;P;P	0.43938	0.744;0.14;0.433;0.822;0.822	B;B;B;B;B	0.37650	0.074;0.056;0.109;0.255;0.255	T	0.70641	-0.4816	10	0.54805	T	0.06	.	14.3365	0.66595	0.1489:0.8511:0.0:0.0	.	169;541;1050;1007;1034	Q658P8;E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;.;PHLB2_HUMAN;.;.	M	1034;1050;1007;1007;1050;1007;541	ENSP00000377500:T1034M;ENSP00000405405:T1050M;ENSP00000405292:T1007M;ENSP00000418296:T1007M;ENSP00000377502:T1050M;ENSP00000418319:T1007M;ENSP00000420303:T541M	ENSP00000377500:T1034M	T	+	2	0	PHLDB2	113168221	0.593000	0.26840	0.973000	0.42090	0.845000	0.48019	1.535000	0.36061	2.818000	0.97014	0.591000	0.81541	ACG		0.478	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		58	41	0	0	0	1	0	58	41				
COX4I2	84701	broad.mit.edu	37	20	30231298	30231298	+	Silent	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr20:30231298T>C	ENST00000376075.3	+	4	414	c.339T>C	c.(337-339)atT>atC	p.I113I	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	113					cellular respiration (GO:0045333)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TCTTCTTCATTGGATTCGCAG	0.562																																						ENST00000376075.3																			0				breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11						c.(337-339)atT>atC		cytochrome c oxidase subunit IV isoform 2 (lung)							219.0	176.0	191.0					20																	30231298		2203	4300	6503	SO:0001819	synonymous_variant	84701				cellular respiration		cytochrome-c oxidase activity	g.chr20:30231298T>C	AF257180	CCDS13187.1	20q11.21	2011-07-04	2004-08-11		ENSG00000131055	ENSG00000131055		"""Mitochondrial respiratory chain complex / Complex IV"""	16232	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit IV-like 2"""	607976	"""cytochrome c oxidase subunit IV isoform 2"""	COX4L2		11311561, 17937768	Standard	NM_032609		Approved	COXIV-2, COX4B, dJ857M17.2, COX4-2	uc002wwj.1	Q96KJ9	OTTHUMG00000032180	ENST00000376075.3:c.339T>C	20.37:g.30231298T>C						COX4I2_ENST00000490030.1_Intron	p.I113I	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		4	414	+	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		113					Q6GTF4|Q9H0Z4	Silent	SNP	ENST00000376075.3	37	c.339T>C	CCDS13187.1																																																																																				0.562	COX4I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078548.1	NM_032609		26	93	0	0	0	1	0	26	93				
KRT38	8687	broad.mit.edu	37	17	39595476	39595476	+	Silent	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:39595476G>C	ENST00000246646.3	-	3	710	c.711C>G	c.(709-711)tcC>tcG	p.S237S		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	237	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGCTCTTGAGGGAGAGCTGCT	0.657																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(709-711)tcC>tcG		keratin 38							54.0	49.0	51.0					17																	39595476		2203	4300	6503	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39595476G>C	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.711C>G	17.37:g.39595476G>C							p.S237S	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			3	710	-		Breast(137;0.000496)	237			Coil 1B.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.711C>G	CCDS11392.1																																																																																				0.657	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		30	40	0	0	0	1	0	30	40				
PRPF40B	25766	broad.mit.edu	37	12	50037528	50037528	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:50037528A>G	ENST00000380281.1	+	23	2436	c.2372A>G	c.(2371-2373)cAc>cGc	p.H791R	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Missense_Mutation_p.H778R|PRPF40B_ENST00000548825.2_Missense_Mutation_p.H812R			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	791					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.H791R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGAGAAGACACAAGTCGGTG	0.463																																						ENST00000261897.1																			1	Substitution - Missense(1)	p.H791R(1)	kidney(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(2332-2334)cAc>cGc		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							69.0	68.0	69.0					12																	50037528		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037528A>G	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2372A>G	12.37:g.50037528A>G	ENSP00000369634:p.His791Arg					PRPF40B_ENST00000380281.1_Missense_Mutation_p.H791R|PRPF40B_ENST00000548825.2_Missense_Mutation_p.H812R|FMNL3_ENST00000335154.5_3'UTR	p.H778R			Q6NWY9	PR40B_HUMAN			23	2884	+			791					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.2333A>G		.	.	.	.	.	.	.	.	.	.	A	13.84	2.357573	0.41801	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.23754	1.89;1.9	4.58	4.58	0.56647	.	0.421373	0.22144	N	0.064002	T	0.41026	0.1141	L	0.39147	1.195	0.80722	D	1	D;D;D	0.61080	0.981;0.989;0.989	D;D;D	0.72625	0.95;0.978;0.978	T	0.24476	-1.0159	10	0.62326	D	0.03	-5.9535	13.4273	0.61032	1.0:0.0:0.0:0.0	.	791;778;790	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	R	778;791	ENSP00000261897:H778R;ENSP00000369634:H791R	ENSP00000261897:H778R	H	+	2	0	PRPF40B	48323795	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	7.872000	0.87187	2.085000	0.62840	0.454000	0.30748	CAC		0.463	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		27	22	0	0	0	1	0	27	22				
VPS18	57617	broad.mit.edu	37	15	41193149	41193149	+	Silent	SNP	C	C	T	rs12914973	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:41193149C>T	ENST00000220509.5	+	4	2472	c.2133C>T	c.(2131-2133)cgC>cgT	p.R711R	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	711					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCACCACCGCGCTTGTGTCC	0.632													C|||	13	0.00259585	0.0008	0.0	5008	,	,		19518	0.0		0.0099	False		,,,				2504	0.002					ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2131-2133)cgC>cgT		vacuolar protein sorting 18 homolog (S. cerevisiae)		C		6,4400	11.4+/-27.6	0,6,2197	52.0	49.0	50.0		2133	-10.4	0.8	15	dbSNP_121	50	79,8521	45.8+/-104.6	1,77,4222	no	coding-synonymous	VPS18	NM_020857.2		1,83,6419	TT,TC,CC		0.9186,0.1362,0.6535		711/974	41193149	85,12921	2203	4300	6503	SO:0001819	synonymous_variant	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41193149C>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.2133C>T	15.37:g.41193149C>T						VPS18_ENST00000558474.1_Intron	p.R711R	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	2472	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	711					Q8TCG0|Q96DI3|Q9H268	Silent	SNP	ENST00000220509.5	37	c.2133C>T	CCDS10069.1																																																																																				0.632	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			51	12	0	0	0	1	0	51	12				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	105	0	0	0	1	0	4	105				
CFHR3	10878	broad.mit.edu	37	1	196748322	196748322	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:196748322A>C	ENST00000367425.4	+	2	181	c.89A>C	c.(88-90)cAt>cCt	p.H30P	CFHR3_ENST00000391985.3_Missense_Mutation_p.H30P|CFHR3_ENST00000471440.2_Missense_Mutation_p.H30P	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	30	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GACATTAAACATGGAGGTCTA	0.289																																						ENST00000471440.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(88-90)cAt>cCt		complement factor H-related 3							51.0	57.0	55.0					1																	196748322		1904	4124	6028	SO:0001583	missense	10878							g.chr1:196748322A>C	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.89A>C	1.37:g.196748322A>C	ENSP00000356395:p.His30Pro					CFHR3_ENST00000367425.4_Missense_Mutation_p.H30P|CFHR3_ENST00000391985.3_Missense_Mutation_p.H30P	p.H30P							2	163	+								B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.89A>C	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	12.38	1.919149	0.33908	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.67523	-0.27;-0.27;-0.27	2.31	2.31	0.28768	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.80319	0.4601	M	0.85945	2.785	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.996;0.998;0.951	T	0.65668	-0.6112	9	0.72032	D	0.01	.	6.6031	0.22710	1.0:0.0:0.0:0.0	.	30;30;30	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	P	30	ENSP00000356395:H30P;ENSP00000436258:H30P;ENSP00000375845:H30P	ENSP00000356395:H30P	H	+	2	0	CFHR3	195014945	0.992000	0.36948	0.331000	0.25455	0.022000	0.10575	2.819000	0.48049	1.334000	0.45468	0.155000	0.16302	CAT		0.289	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023		18	35	0	0	0	1	0	18	35				
CCDC109B	55013	broad.mit.edu	37	4	110581405	110581405	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110581405C>G	ENST00000394650.4	+	3	363	c.230C>G	c.(229-231)tCt>tGt	p.S77C	CCDC109B_ENST00000515114.1_3'UTR	NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	77					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ACCTTGCCATCTAGAAAAGAA	0.328																																						ENST00000394650.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9						c.(229-231)tCt>tGt		coiled-coil domain containing 109B							86.0	71.0	76.0					4																	110581405		2203	4300	6503	SO:0001583	missense	55013					integral to membrane		g.chr4:110581405C>G	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.230C>G	4.37:g.110581405C>G	ENSP00000378145:p.Ser77Cys					CCDC109B_ENST00000515114.1_3'UTR	p.S77C	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	3	363	+			77					A8K4Y3|Q6IAC1	Missense_Mutation	SNP	ENST00000394650.4	37	c.230C>G	CCDS3683.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340900	0.81911	.	.	ENSG00000005059	ENST00000394650;ENST00000452915	T;T	0.50548	0.74;0.74	5.43	5.43	0.79202	.	0.096626	0.41823	U	0.000806	T	0.70745	0.3259	M	0.75085	2.285	0.49051	D	0.999744	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.73889	-0.3840	10	0.87932	D	0	-10.3143	19.2428	0.93891	0.0:1.0:0.0:0.0	.	77;56	Q9NWR8;C9JTJ6	C109B_HUMAN;.	C	77;56	ENSP00000378145:S77C;ENSP00000414591:S56C	ENSP00000378145:S77C	S	+	2	0	CCDC109B	110800854	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	4.871000	0.63042	2.547000	0.85894	0.650000	0.86243	TCT		0.328	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	NM_017918		12	8	0	0	0	1	0	12	8				
HERC1	8925	broad.mit.edu	37	15	63935628	63935628	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:63935628C>T	ENST00000443617.2	-	58	11393	c.11306G>A	c.(11305-11307)gGg>gAg	p.G3769E		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3769					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTTCATGAGCCCACCTAGTCC	0.418																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(11305-11307)gGg>gAg		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							65.0	62.0	63.0					15																	63935628		1909	4123	6032	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63935628C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.11306G>A	15.37:g.63935628C>T	ENSP00000390158:p.Gly3769Glu						p.G3769E	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			58	11393	-			3769					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.11306G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	31	5.059150	0.93846	.	.	ENSG00000103657	ENST00000443617	T	0.74209	-0.82	5.02	5.02	0.67125	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	U	0.000000	D	0.84206	0.5421	M	0.69248	2.105	0.80722	D	1	D	0.64830	0.994	P	0.62184	0.899	D	0.86109	0.1561	10	0.87932	D	0	.	18.7053	0.91635	0.0:1.0:0.0:0.0	.	3769	Q15751	HERC1_HUMAN	E	3769	ENSP00000390158:G3769E	ENSP00000390158:G3769E	G	-	2	0	HERC1	61722681	1.000000	0.71417	0.980000	0.43619	0.985000	0.73830	7.776000	0.85560	2.500000	0.84329	0.563000	0.77884	GGG		0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		19	1	0	0	0	1	0	19	1				
CRYBB3	1417	broad.mit.edu	37	22	25603098	25603098	+	Silent	SNP	C	C	T	rs140985147		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr22:25603098C>T	ENST00000215855.2	+	6	635	c.555C>T	c.(553-555)gaC>gaT	p.D185D	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	185	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						ATGAGTGGGACGCCAGCCAGC	0.652																																						ENST00000215855.2																			0				large_intestine(2)|lung(2)|prostate(1)	5						c.(553-555)gaC>gaT		crystallin, beta B3		C		1,4403		0,1,2201	34.0	35.0	35.0		555	-3.3	1.0	22	dbSNP_134	35	0,8596		0,0,4298	no	coding-synonymous	CRYBB3	NM_004076.3		0,1,6499	TT,TC,CC		0.0,0.0227,0.0077		185/212	25603098	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25603098C>T		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.555C>T	22.37:g.25603098C>T						CRYBB3_ENST00000404334.1_3'UTR	p.D185D	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN			6	635	+			185			Beta/gamma crystallin 'Greek key' 4.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Silent	SNP	ENST00000215855.2	37	c.555C>T	CCDS13830.1																																																																																				0.652	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		6	69	0	0	0	1	0	6	69				
AHNAK	79026	broad.mit.edu	37	11	62289071	62289071	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:62289071C>G	ENST00000378024.4	-	5	13092	c.12818G>C	c.(12817-12819)gGt>gCt	p.G4273A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4273					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACATCACCCTTCACCTT	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12817-12819)gGt>gCt		AHNAK nucleoprotein							199.0	202.0	201.0					11																	62289071		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62289071C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12818G>C	11.37:g.62289071C>G	ENSP00000367263:p.Gly4273Ala					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.G4273A	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13092	-		Melanoma(852;0.155)	4273					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12818G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	7.623	0.677268	0.14841	.	.	ENSG00000124942	ENST00000378024	T	0.05925	3.37	4.73	4.73	0.59995	.	0.000000	0.41294	D	0.000908	T	0.14056	0.0340	M	0.62016	1.91	0.34543	D	0.710449	D	0.56035	0.974	P	0.54270	0.747	T	0.14727	-1.0462	10	0.08599	T	0.76	.	15.5867	0.76489	0.0:1.0:0.0:0.0	.	4273	Q09666	AHNK_HUMAN	A	4273	ENSP00000367263:G4273A	ENSP00000367263:G4273A	G	-	2	0	AHNAK	62045647	0.982000	0.34865	0.931000	0.37212	0.008000	0.06430	4.685000	0.61693	2.194000	0.70268	0.543000	0.68304	GGT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	346	0	0	0	1	0	7	346				
RGS3	5998	broad.mit.edu	37	9	116356592	116356592	+	Intron	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:116356592C>T	ENST00000374140.2	+	23	3289				RGS3_ENST00000350696.5_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000462403.1_Silent_p.N131N|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000394646.3_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCAACGGGAACCTGCAGAGGC	0.622																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(391-393)aaC>aaT		regulator of G-protein signaling 3							48.0	55.0	53.0					9																	116356592		2202	4300	6502	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356592C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-118C>T	9.37:g.116356592C>T						RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron	p.N131N	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN			1	827	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	c.393C>T	CCDS43869.1																																																																																				0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		76	97	0	0	0	1	0	76	97				
PVRL3	25945	broad.mit.edu	37	3	110831116	110831116	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:110831116A>G	ENST00000485303.1	+	2	675	c.400A>G	c.(400-402)Act>Gct	p.T134A	PVRL3_ENST00000493615.1_Missense_Mutation_p.T111A|PVRL3_ENST00000319792.3_Missense_Mutation_p.T134A|PVRL3_ENST00000488016.1_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	134	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGCAACAATTACTCTGCATAA	0.393																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(400-402)Act>Gct		poliovirus receptor-related 3							125.0	122.0	123.0					3																	110831116		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110831116A>G	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.400A>G	3.37:g.110831116A>G	ENSP00000418070:p.Thr134Ala					PVRL3_ENST00000493615.1_Missense_Mutation_p.T111A|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.T134A	p.T134A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			2	675	+			134			Ig-like V-type.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.400A>G	CCDS2957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.08|11.08	1.532456|1.532456	0.27387|0.27387	.|.	.|.	ENSG00000177707|ENSG00000177707	ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766|ENST00000486596	T;T;T;T;T|.	0.69175|.	-0.38;-0.38;-0.38;-0.38;-0.38|.	5.43|5.43	4.12|4.12	0.48240|0.48240	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.269112|.	0.42548|.	D|.	0.000683|.	T|T	0.16214|0.16214	0.0390|0.0390	N|N	0.05012|0.05012	-0.13|-0.13	0.27238|0.27238	N|N	0.959229|0.959229	B;B|.	0.26902|.	0.163;0.139|.	B;B|.	0.30105|.	0.111;0.088|.	T|T	0.11299|0.11299	-1.0593|-1.0593	10|5	0.05620|.	T|.	0.96|.	.|.	4.7437|4.7437	0.13028|0.13028	0.7705:0.0:0.2295:0.0|0.7705:0.0:0.2295:0.0	.|.	111;134|.	E9PFR0;Q9NQS3|.	.;PVRL3_HUMAN|.	A|C	87;134;134;111;119|133	ENSP00000418327:T87A;ENSP00000418070:T134A;ENSP00000321514:T134A;ENSP00000420579:T111A;ENSP00000420479:T119A|.	ENSP00000321514:T134A|.	T|Y	+|+	1|2	0|0	PVRL3|PVRL3	112313806|112313806	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	1.399000|1.399000	0.34566|0.34566	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	ACT|TAC		0.393	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		43	41	0	0	0	1	0	43	41				
NCKAP1	10787	broad.mit.edu	37	2	183843586	183843586	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:183843586T>C	ENST00000361354.4	-	14	1771	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.M473V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	467					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGGAAGTCATAGTGTTAACA	0.279																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1417-1419)Atg>Gtg		NCK-associated protein 1							53.0	55.0	55.0					2																	183843586		2202	4296	6498	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183843586T>C	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1399A>G	2.37:g.183843586T>C	ENSP00000355348:p.Met467Val					NCKAP1_ENST00000361354.3_Missense_Mutation_p.M467V	p.M473V	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		15	2175	-			467					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.1417A>G	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.216623	0.58452	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.27720	1.65;1.65	5.44	5.44	0.79542	.	0.035510	0.85682	D	0.000000	T	0.30262	0.0759	L	0.43152	1.355	0.80722	D	1	B;B	0.14012	0.009;0.007	B;B	0.18871	0.023;0.013	T	0.04870	-1.0921	10	0.54805	T	0.06	-6.2624	15.7939	0.78394	0.0:0.0:0.0:1.0	.	467;473	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	467;473	ENSP00000355348:M467V;ENSP00000354251:M473V	ENSP00000354251:M473V	M	-	1	0	NCKAP1	183551831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.206000	0.72154	2.174000	0.68829	0.528000	0.53228	ATG		0.279	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		13	21	0	0	0	1	0	13	21				
MLKL	197259	broad.mit.edu	37	16	74725174	74725174	+	Splice_Site	SNP	C	C	T	rs144019045		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:74725174C>T	ENST00000308807.7	-	4	1186		c.e4+1		MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like									p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						aaacaacttacgcaatgcTGC	0.438													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18916	0.0		0.0	False		,,,				2504	0.0					ENST00000308807.7																			1	Unknown(1)	p.?(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						c.e4+1		mixed lineage kinase domain-like		C	,	1,4395	2.1+/-5.4	0,1,2197	226.0	230.0	228.0		,	4.2	0.9	16	dbSNP_134	228	1,8599	1.2+/-3.3	0,1,4299	no	intron,splice-5	MLKL	NM_001142497.1,NM_152649.2	,	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	,	,	74725174	2,12994	2198	4300	6498	SO:0001630	splice_region_variant	197259						ATP binding|protein binding|protein kinase activity	g.chr16:74725174C>T	AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.722+1G>A	16.37:g.74725174C>T						MLKL_ENST00000306247.7_Intron		NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN			4	1186	-									Splice_Site	SNP	ENST00000308807.7	37		CCDS32487.1																																																																																				0.438	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436403.3	NM_152649	Intron	132	154	0	0	0	1	0	132	154				
ARHGAP39	80728	broad.mit.edu	37	8	145773361	145773361	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:145773361T>C	ENST00000276826.5	-	4	1310	c.1109A>G	c.(1108-1110)cAg>cGg	p.Q370R	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.Q370R|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.Q370R|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	370					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGCACCAGCTGCTGGCAGGG	0.706																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1108-1110)cAg>cGg		Rho GTPase activating protein 39							15.0	12.0	13.0					8																	145773361		2178	4246	6424	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773361T>C		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1109A>G	8.37:g.145773361T>C	ENSP00000276826:p.Gln370Arg					ARHGAP39_ENST00000377307.2_Missense_Mutation_p.Q370R|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.Q370R	p.Q370R			Q9C0H5	RHG39_HUMAN			4	1310	-			370					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.1109A>G		.	.	.	.	.	.	.	.	.	.	T	16.12	3.033945	0.54896	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.72942	-0.7;-0.43;-0.7	5.37	5.37	0.77165	.	0.135450	0.52532	D	0.000074	T	0.72906	0.3519	L	0.50333	1.59	0.38847	D	0.95618	P;P	0.38827	0.517;0.649	B;P	0.48304	0.369;0.573	T	0.74321	-0.3703	10	0.39692	T	0.17	-13.1644	13.3108	0.60378	0.0:0.0:0.0:1.0	.	370;370	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	R	370	ENSP00000276826:Q370R;ENSP00000366522:Q370R;ENSP00000445075:Q370R	ENSP00000276826:Q370R	Q	-	2	0	ARHGAP39	145744169	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.663000	0.61532	2.032000	0.59987	0.533000	0.62120	CAG		0.706	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			13	15	0	0	0	1	0	13	15				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			31	41	0	0	0	1	0	31	41				
PCDHA2	56146	broad.mit.edu	37	5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	497	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1489-1491)Cgg>Tgg									53.0	57.0	56.0					5																	140176038		2203	4300	6503	SO:0001583	missense	0							g.chr5:140176038C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1489C>T	5.37:g.140176038C>T	ENSP00000431748:p.Arg497Trp					PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.R497W	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1489	+								O75287|Q9BTV3	Missense_Mutation	SNP	ENST00000526136.1	37	c.1489C>T	CCDS54914.1	.	.	.	.	.	.	.	.	.	.	c	16.53	3.149674	0.57151	.	.	ENSG00000204969	ENST00000520672;ENST00000378132;ENST00000526136	T;T;T	0.52295	0.67;0.67;0.67	4.05	2.03	0.26663	Cadherin (4);Cadherin-like (1);	0.194082	0.23035	U	0.052684	T	0.58018	0.2093	M	0.63208	1.945	0.24455	N	0.994467	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.959;0.986;0.959	T	0.44620	-0.9316	10	0.87932	D	0	.	4.5007	0.11863	0.3983:0.4929:0.0:0.1087	.	497;497;497	Q9Y5H9-3;Q9Y5H9;Q9Y5H9-2	.;PCDA2_HUMAN;.	W	497	ENSP00000430584:R497W;ENSP00000367372:R497W;ENSP00000431748:R497W	ENSP00000367372:R497W	R	+	1	2	PCDHA2	140156222	0.000000	0.05858	0.998000	0.56505	0.939000	0.58152	-0.526000	0.06207	0.812000	0.34326	-0.195000	0.12781	CGG		0.672	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		6	148	0	0	0	1	0	6	148				
THOC6	79228	broad.mit.edu	37	16	3075763	3075763	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:3075763G>A	ENST00000326266.8	+	2	390	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	HCFC1R1_ENST00000572355.1_5'Flank|THOC6_ENST00000253952.9_Missense_Mutation_p.V32I|THOC6_ENST00000575576.1_Missense_Mutation_p.V8I|HCFC1R1_ENST00000396916.1_5'Flank|HCFC1R1_ENST00000574980.1_5'Flank|HCFC1R1_ENST00000248089.3_5'Flank|HCFC1R1_ENST00000574151.1_5'Flank|THOC6_ENST00000574549.1_Missense_Mutation_p.V8I|HCFC1R1_ENST00000354679.3_5'Flank	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	32					apoptotic process (GO:0006915)|central nervous system development (GO:0007417)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CTCCCAGAGCGTCTCACCATG	0.567																																						ENST00000326266.8																			0				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						c.(94-96)Gtc>Atc		THO complex 6 homolog (Drosophila)							121.0	112.0	115.0					16																	3075763		2198	4300	6498	SO:0001583	missense	79228				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding	g.chr16:3075763G>A	BC050674	CCDS10491.1, CCDS45392.1	16p13.3	2013-02-11	2006-03-02	2006-03-02		ENSG00000131652		"""WD repeat domain containing"", ""THO complex subunits"""	28369	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 35"""	615403	"""WD repeat domain 58"""	WDR58		12477932	Standard	NM_024339		Approved	MGC2655, fSAP35	uc002ctb.2	Q86W42		ENST00000326266.8:c.94G>A	16.37:g.3075763G>A	ENSP00000326531:p.Val32Ile					THOC6_ENST00000574549.1_Missense_Mutation_p.V8I|THOC6_ENST00000253952.9_Missense_Mutation_p.V32I|THOC6_ENST00000575576.1_Missense_Mutation_p.V8I	p.V32I	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN			2	390	+			32					B2RA85|Q8NBR1|Q9BTV9	Missense_Mutation	SNP	ENST00000326266.8	37	c.94G>A	CCDS10491.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.340960	0.41498	.	.	ENSG00000131652	ENST00000326266;ENST00000253952	T;T	0.59638	0.25;1.6	5.31	2.15	0.27550	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.243493	0.40222	N	0.001142	T	0.41858	0.1177	L	0.42245	1.32	0.30454	N	0.774991	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	T	0.29912	-0.9996	10	0.35671	T	0.21	0.0081	3.7972	0.08744	0.19:0.0:0.4801:0.3299	.	32;32	Q86W42-3;Q86W42	.;THOC6_HUMAN	I	32	ENSP00000326531:V32I;ENSP00000253952:V32I	ENSP00000253952:V32I	V	+	1	0	THOC6	3015764	1.000000	0.71417	0.080000	0.20451	0.974000	0.67602	2.674000	0.46867	0.178000	0.19917	0.561000	0.74099	GTC		0.567	THOC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436981.1	NM_024339		20	92	0	0	0	1	0	20	92				
DNAH11	8701	broad.mit.edu	37	7	21721268	21721268	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:21721268C>T	ENST00000409508.3	+	31	5464	c.5433C>T	c.(5431-5433)gaC>gaT	p.D1811D	DNAH11_ENST00000328843.6_Silent_p.D1816D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1816	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGCCAGAGACGTGGTGGCAA	0.398									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(5446-5448)gaC>gaT		dynein, axonemal, heavy chain 11							147.0	141.0	143.0					7																	21721268		1895	4130	6025	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21721268C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5433C>T	7.37:g.21721268C>T						DNAH11_ENST00000409508.3_Silent_p.D1811D	p.D1816D			Q96DT5	DYH11_HUMAN			31	5479	+			1816			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.5448C>T																																																																																					0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	121	0	0	0	1	0	4	121				
UGGT2	55757	broad.mit.edu	37	13	96592232	96592232	+	Silent	SNP	A	A	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:96592232A>G	ENST00000376747.3	-	16	1861	c.1791T>C	c.(1789-1791)tcT>tcC	p.S597S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	597					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATCATATTTAGAATGAATTC	0.358																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(1789-1791)tcT>tcC		UDP-glucose glycoprotein glucosyltransferase 2							95.0	94.0	94.0					13																	96592232		2203	4299	6502	SO:0001819	synonymous_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96592232A>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1791T>C	13.37:g.96592232A>G							p.S597S	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			16	1861	-			597					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	c.1791T>C	CCDS9480.1																																																																																				0.358	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		14	28	0	0	0	1	0	14	28				
CNNM4	26504	broad.mit.edu	37	2	97427110	97427110	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:97427110G>A	ENST00000377075.2	+	1	472	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	125					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AACGTGAGCCGCGGGAACACG	0.652																																						ENST00000377075.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(373-375)cGc>cAc		cyclin M4							57.0	56.0	56.0					2																	97427110		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97427110G>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.374G>A	2.37:g.97427110G>A	ENSP00000366275:p.Arg125His						p.R125H	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			1	472	+			125					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.374G>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	g	18.97	3.735997	0.69189	.	.	ENSG00000158158	ENST00000377075	T	0.74421	-0.84	4.72	4.72	0.59763	.	0.768931	0.11569	U	0.550942	T	0.69486	0.3116	M	0.65498	2.005	0.80722	D	1	B	0.20459	0.045	B	0.10450	0.005	T	0.66654	-0.5869	10	0.39692	T	0.17	-24.2938	6.1934	0.20536	0.095:0.0:0.7184:0.1866	.	125	Q6P4Q7	CNNM4_HUMAN	H	125	ENSP00000366275:R125H	ENSP00000366275:R125H	R	+	2	0	CNNM4	96790837	0.810000	0.29049	1.000000	0.80357	0.990000	0.78478	1.432000	0.34936	2.189000	0.69895	0.550000	0.68814	CGC		0.652	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		4	149	0	0	0	1	0	4	149				
RGPD4	285190	broad.mit.edu	37	2	108487540	108487540	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:108487540C>G	ENST00000408999.3	+	20	3157	c.3080C>G	c.(3079-3081)gCc>gGc	p.A1027G	RGPD4_ENST00000354986.4_Missense_Mutation_p.A1027G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1027					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATGATGATGCCTATAAGACT	0.388																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3079-3081)gCc>gGc		RANBP2-like and GRIP domain containing 4							1.0	2.0	2.0					2																	108487540		299	849	1148	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487540C>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3080C>G	2.37:g.108487540C>G	ENSP00000386810:p.Ala1027Gly					RGPD4_ENST00000354986.4_Missense_Mutation_p.A1027G	p.A1027G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3157	+			1027					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3080C>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	5.935	0.356456	0.11239	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.42513	0.97;0.97	2.33	2.33	0.28932	.	.	.	.	.	T	0.37156	0.0993	M	0.68317	2.08	0.23743	N	0.996968	B	0.31730	0.337	B	0.32583	0.148	T	0.29792	-1.0000	9	0.38643	T	0.18	-0.6292	4.3385	0.11097	0.0:0.6872:0.0:0.3128	.	1027	Q7Z3J3	RGPD4_HUMAN	G	1027;1027;785	ENSP00000347081:A1027G;ENSP00000386810:A1027G	ENSP00000347081:A1027G	A	+	2	0	RGPD4	107853972	1.000000	0.71417	0.997000	0.53966	0.498000	0.33706	4.545000	0.60698	1.303000	0.44873	0.162000	0.16502	GCC		0.388	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		166	199	0	0	0	1	0	166	199				
GTF3C4	9329	broad.mit.edu	37	9	135546109	135546109	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546109G>A	ENST00000372146.4	+	1	688	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'Flank|GTF3C4_ENST00000483873.2_Missense_Mutation_p.G42R|DDX31_ENST00000310532.2_5'Flank|DDX31_ENST00000372159.3_5'Flank|DDX31_ENST00000372153.1_5'Flank	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	42					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGCGGCCCCGGGGCCCAGCGC	0.756																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(124-126)Ggg>Agg		general transcription factor IIIC, polypeptide 4, 90kDa							5.0	7.0	6.0					9																	135546109		2061	4095	6156	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135546109G>A	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.124G>A	9.37:g.135546109G>A	ENSP00000361219:p.Gly42Arg					GTF3C4_ENST00000483873.2_Missense_Mutation_p.G42R	p.G42R	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	1	688	+			42					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.124G>A	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864571	0.71949	.	.	ENSG00000125484	ENST00000372146	T	0.51574	0.7	3.39	3.39	0.38822	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.118374	0.34156	N	0.004208	T	0.27629	0.0679	N	0.08118	0	0.26224	N	0.979112	P	0.39326	0.668	B	0.40477	0.33	T	0.15093	-1.0449	10	0.87932	D	0	-16.3621	8.021	0.30408	0.1182:0.0:0.8818:0.0	.	42	Q9UKN8	TF3C4_HUMAN	R	42	ENSP00000361219:G42R	ENSP00000361219:G42R	G	+	1	0	GTF3C4	134535930	0.904000	0.30761	0.996000	0.52242	0.625000	0.37756	1.329000	0.33770	1.882000	0.54519	0.462000	0.41574	GGG		0.756	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			3	0	0	0	0	1	0	3	0				
WASF3	10810	broad.mit.edu	37	13	27239244	27239244	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:27239244C>G	ENST00000335327.5	+	4	391	c.213C>G	c.(211-213)gaC>gaG	p.D71E	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Missense_Mutation_p.D71E	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	71					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCTTCAAGACAGAATTGATC	0.408																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(211-213)gaC>gaG		WAS protein family, member 3							101.0	93.0	96.0					13																	27239244		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27239244C>G	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.213C>G	13.37:g.27239244C>G	ENSP00000335055:p.Asp71Glu					WASF3_ENST00000335327.5_Missense_Mutation_p.D71E|WASF3_ENST00000496788.1_3'UTR	p.D71E			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	4	438	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	71					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.213C>G	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461566	0.26248	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.63096	-0.02;-0.02	5.64	5.64	0.86602	.	0.042673	0.85682	D	0.000000	T	0.38081	0.1027	N	0.02296	-0.605	0.80722	D	1	B;B	0.25667	0.131;0.041	B;B	0.29942	0.109;0.042	T	0.44513	-0.9323	10	0.02654	T	1	-37.7364	19.6999	0.96048	0.0:1.0:0.0:0.0	.	71;71	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	E	71	ENSP00000354325:D71E;ENSP00000335055:D71E	ENSP00000335055:D71E	D	+	3	2	WASF3	26137244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.310000	0.43708	2.659000	0.90383	0.650000	0.86243	GAC		0.408	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			15	42	0	0	0	1	0	15	42				
OLFM4	10562	broad.mit.edu	37	13	53624246	53624246	+	Silent	SNP	G	G	A	rs147184057		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:53624246G>A	ENST00000219022.2	+	5	951	c.873G>A	c.(871-873)gcG>gcA	p.A291A		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	291	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATTGGGTGGCGCCATTGAATA	0.448																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(871-873)gcG>gcA		olfactomedin 4		G		0,4406		0,0,2203	111.0	100.0	104.0		873	-11.8	0.3	13	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OLFM4	NM_006418.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		291/511	53624246	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53624246G>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.873G>A	13.37:g.53624246G>A							p.A291A	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	951	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	291			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.873G>A	CCDS9440.1																																																																																				0.448	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		49	61	0	0	0	1	0	49	61				
CEP72	55722	broad.mit.edu	37	5	620335	620335	+	Missense_Mutation	SNP	G	G	A	rs542279058		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:620335G>A	ENST00000264935.5	+	3	452	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	121	LRRCT.				G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCTGACTACCGCCTTTTTGTT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20813	0.0		0.0	False		,,,				2504	0.0					ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(361-363)cGc>cAc		centrosomal protein 72kDa							117.0	101.0	106.0					5																	620335		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:620335G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.362G>A	5.37:g.620335G>A	ENSP00000264935:p.Arg121His					CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		3	452	+			121			LRRCT.		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.362G>A	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689342	0.68271	.	.	ENSG00000112877	ENST00000264935;ENST00000444221	T;T	0.31247	1.5;1.5	4.81	4.81	0.61882	U2A&apos (1);/phosphoprotein 32 family A, C-terminal (1);	0.063358	0.64402	D	0.000003	T	0.69672	0.3137	H	0.97682	4.055	0.52099	D	0.99994	D	0.89917	1.0	D	0.85130	0.997	T	0.81638	-0.0842	10	0.87932	D	0	-30.8591	15.1567	0.72749	0.0:0.0:1.0:0.0	.	121	Q9P209	CEP72_HUMAN	H	121	ENSP00000264935:R121H;ENSP00000392052:R121H	ENSP00000264935:R121H	R	+	2	0	CEP72	673335	1.000000	0.71417	0.999000	0.59377	0.216000	0.24613	6.539000	0.73856	2.347000	0.79759	0.462000	0.41574	CGC		0.602	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		48	77	0	0	0	1	0	48	77				
MAP1B	4131	broad.mit.edu	37	5	71495073	71495073	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:71495073C>G	ENST00000296755.7	+	5	6189	c.5891C>G	c.(5890-5892)aCc>aGc	p.T1964S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1964					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAAAGACCACCAGCCCCCCC	0.473																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(5890-5892)aCc>aGc		microtubule-associated protein 1B							64.0	69.0	67.0					5																	71495073		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495073C>G	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5891C>G	5.37:g.71495073C>G	ENSP00000296755:p.Thr1964Ser						p.T1964S	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6189	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1964					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5891C>G	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	0.159	-1.083073	0.01888	.	.	ENSG00000131711	ENST00000296755	T	0.02890	4.12	4.98	1.91	0.25777	.	0.291406	0.29493	N	0.011991	T	0.02047	0.0064	N	0.08118	0	0.09310	N	1	B;B	0.30727	0.292;0.009	B;B	0.36244	0.22;0.036	T	0.46034	-0.9220	10	0.54805	T	0.06	0.0267	8.2532	0.31739	0.0:0.4803:0.0:0.5197	.	1838;1964	A2BDK6;P46821	.;MAP1B_HUMAN	S	1964	ENSP00000296755:T1964S	ENSP00000296755:T1964S	T	+	2	0	MAP1B	71530829	0.000000	0.05858	0.004000	0.12327	0.334000	0.28698	-0.020000	0.12525	0.393000	0.25203	0.448000	0.29417	ACC		0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		6	83	0	0	0	1	0	6	83				
PCDHA3	56145	broad.mit.edu	37	5	140182696	140182696	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140182696C>T	ENST00000522353.2	+	1	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.D638D	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAGGTGGACG	0.667																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1912-1914)gaC>gaT									67.0	68.0	68.0					5																	140182696		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140182696C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1914C>T	5.37:g.140182696C>T						PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.D638D|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.D638D	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1914	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1914C>T	CCDS54915.1																																																																																				0.667	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		11	143	0	0	0	1	0	11	143				
SPRY4	81848	broad.mit.edu	37	5	141693969	141693969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:141693969C>T	ENST00000434127.2	-	2	948	c.705G>A	c.(703-705)tgG>tgA	p.W235*	SPRY4_ENST00000344120.4_Nonsense_Mutation_p.W258*|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	235	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAAGGACCAGCGGGCGC	0.662									Testicular Cancer, Familial Clustering of																													ENST00000344120.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(772-774)tgG>tgA		sprouty homolog 4 (Drosophila)							67.0	66.0	66.0					5																	141693969		2203	4300	6503	SO:0001587	stop_gained	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141693969C>T	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.705G>A	5.37:g.141693969C>T	ENSP00000399468:p.Trp235*					SPRY4_ENST00000434127.2_Nonsense_Mutation_p.W235*	p.W258*	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	960	-		all_hematologic(541;0.118)	235			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Nonsense_Mutation	SNP	ENST00000434127.2	37	c.774G>A	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	C	36	5.929834	0.97116	.	.	ENSG00000187678	ENST00000344120;ENST00000434127	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.8229	18.3187	0.90230	0.0:1.0:0.0:0.0	.	.	.	.	X	258;235	.	ENSP00000344967:W258X	W	-	3	0	SPRY4	141674153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.613000	0.67688	2.534000	0.85438	0.561000	0.74099	TGG		0.662	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			29	28	0	0	0	1	0	29	28				
ADAM28	10863	broad.mit.edu	37	8	24187513	24187513	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:24187513C>T	ENST00000265769.4	+	11	1098	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.L330F|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.L97F|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.L77F|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	330	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGCGATAATCTTCTTAGAGT	0.388																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(988-990)Ctt>Ttt		ADAM metallopeptidase domain 28							143.0	133.0	137.0					8																	24187513		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24187513C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.988C>T	8.37:g.24187513C>T	ENSP00000265769:p.Leu330Phe					RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.L77F|ADAM28_ENST00000437154.2_Missense_Mutation_p.L330F|ADAM28_ENST00000540823.1_Missense_Mutation_p.L97F|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000523700.1_RNA	p.L330F	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	11	1098	+		Prostate(55;0.0959)	330			Peptidase M12B.		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.988C>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.381087	0.01204	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	5.86	2.96	0.34315	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.08358	0.0208	L	0.42529	1.33	0.09310	N	1	P;P;P;P	0.43607	0.752;0.812;0.812;0.717	B;B;B;B	0.42738	0.396;0.342;0.342;0.275	T	0.12066	-1.0562	9	0.10111	T	0.7	.	2.5044	0.04641	0.2701:0.4054:0.2301:0.0945	.	97;330;330;330	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2	.;.;ADA28_HUMAN;.	F	330;77;97;330	ENSP00000265769:L330F;ENSP00000380770:L77F;ENSP00000443743:L97F;ENSP00000393699:L330F	ENSP00000265769:L330F	L	+	1	0	ADAM28	24243458	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.474000	0.06607	0.825000	0.34637	0.655000	0.94253	CTT		0.388	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		7	128	0	0	0	1	0	7	128				
SYNRG	11276	broad.mit.edu	37	17	35913795	35913795	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:35913795C>T	ENST00000339208.6	-	14	2170	c.2030G>A	c.(2029-2031)gGg>gAg	p.G677E	SYNRG_ENST00000585472.1_Missense_Mutation_p.G598E|SYNRG_ENST00000394378.2_Missense_Mutation_p.G599E|SYNRG_ENST00000346661.4_Missense_Mutation_p.G677E|SYNRG_ENST00000591288.1_Missense_Mutation_p.G516E|SYNRG_ENST00000345615.4_Missense_Mutation_p.G599E|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Missense_Mutation_p.G599E	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	677	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAATATTCCCCAAAAAGGCT	0.433																																						ENST00000339208.6																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2029-2031)gGg>gAg		synergin, gamma							53.0	53.0	53.0					17																	35913795		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35913795C>T	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2030G>A	17.37:g.35913795C>T	ENSP00000343610:p.Gly677Glu					SYNRG_ENST00000591288.1_Missense_Mutation_p.G516E|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.G598E|SYNRG_ENST00000502449.2_Missense_Mutation_p.G599E|SYNRG_ENST00000346661.4_Missense_Mutation_p.G677E|SYNRG_ENST00000394378.2_Missense_Mutation_p.G599E|SYNRG_ENST00000345615.4_Missense_Mutation_p.G599E	p.G677E	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			14	2170	-			677			Interaction with A1P1G1 and A1P1G2.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.2030G>A	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070651	0.55539	.	.	ENSG00000006114	ENST00000346661;ENST00000339208;ENST00000345615;ENST00000502449;ENST00000394378	T;T;T;T	0.54675	1.26;0.56;0.66;0.69	6.08	6.08	0.98989	.	0.110651	0.64402	D	0.000007	T	0.67933	0.2946	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	0.965;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.81914	0.69;0.995;0.995;0.995;0.992;0.992	T	0.68682	-0.5344	10	0.72032	D	0.01	-11.0266	12.8954	0.58095	0.0:0.9266:0.0:0.0734	.	516;599;599;599;677;677	B7ZKZ2;Q9UMZ2-3;A8MWU4;Q9UMZ2-4;Q9UMZ2-5;Q9UMZ2	.;.;.;.;.;SYNRG_HUMAN	E	677;516;677;599;599	ENSP00000005279:G677E;ENSP00000315722:G677E;ENSP00000424893:G599E;ENSP00000377903:G599E	ENSP00000343610:G516E	G	-	2	0	SYNRG	32987908	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.474000	0.60203	2.894000	0.99253	0.655000	0.94253	GGG		0.433	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		39	58	0	0	0	1	0	39	58				
RLTPR	146206	broad.mit.edu	37	16	67690171	67690171	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:67690171G>A	ENST00000334583.6	+	34	4111	c.3783G>A	c.(3781-3783)tcG>tcA	p.S1261S	RLTPR_ENST00000545661.1_Silent_p.S1225S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1261					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCCCATCTCGATCAAGTCCC	0.582																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(3781-3783)tcG>tcA		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							139.0	138.0	138.0					16																	67690171		2042	4188	6230	SO:0001819	synonymous_variant	146206							g.chr16:67690171G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3783G>A	16.37:g.67690171G>A						RLTPR_ENST00000545661.1_Silent_p.S1225S	p.S1261S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	34	4111	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	1261					B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.3783G>A	CCDS45513.1																																																																																				0.582	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		11	169	0	0	0	1	0	11	169				
ZNF148	7707	broad.mit.edu	37	3	124953096	124953096	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:124953096G>C	ENST00000360647.4	-	8	1230	c.745C>G	c.(745-747)Cat>Gat	p.H249D	ZNF148_ENST00000484491.1_Missense_Mutation_p.H249D|ZNF148_ENST00000544464.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.H249D|ZNF148_ENST00000485866.1_Missense_Mutation_p.H249D|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	249					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCCACTATGAGTTCTCTTA	0.303																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(745-747)Cat>Gat		zinc finger protein 148							113.0	115.0	114.0					3																	124953096		2203	4297	6500	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124953096G>C	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.745C>G	3.37:g.124953096G>C	ENSP00000353863:p.His249Asp					SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.H249D|ZNF148_ENST00000492394.1_Missense_Mutation_p.H249D|ZNF148_ENST00000485866.1_Missense_Mutation_p.H249D|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron	p.H249D	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			8	1230	-			249					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.745C>G	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812306	0.70912	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87728	0.6250	H	0.95365	3.66	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.90913	0.4777	10	0.87932	D	0	-4.9575	19.1883	0.93653	0.0:0.0:1.0:0.0	.	249	Q9UQR1	ZN148_HUMAN	D	249	ENSP00000353863:H249D;ENSP00000420335:H249D;ENSP00000419322:H249D;ENSP00000420448:H249D	ENSP00000353863:H249D	H	-	1	0	ZNF148	126435786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.657000	0.98554	2.764000	0.94973	0.650000	0.86243	CAT		0.303	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		31	42	0	0	0	1	0	31	42				
METTL17	64745	broad.mit.edu	37	14	21458174	21458174	+	Silent	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:21458174C>T	ENST00000339374.6	+	1	246	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	METTL17_ENST00000382985.4_Silent_p.L5L|METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000556670.2_Silent_p.L5L	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	5					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGCGGCGGCACTGAAGTGTCT	0.617																																						ENST00000339374.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(13-15)Ctg>Ttg		methyltransferase like 17							49.0	56.0	53.0					14																	21458174		2203	4300	6503	SO:0001819	synonymous_variant	64745				translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity	g.chr14:21458174C>T	AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.13C>T	14.37:g.21458174C>T						METTL17_ENST00000555177.1_3'UTR|METTL17_ENST00000382985.4_Silent_p.L5L|METTL17_ENST00000556670.2_Silent_p.L5L	p.L5L	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN			1	246	+			5					Q9BSH1|Q9BZH2|Q9BZH3	Silent	SNP	ENST00000339374.6	37	c.13C>T	CCDS9562.1																																																																																				0.617	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073804.4	NM_022734		48	32	0	0	0	1	0	48	32				
HEATR5B	54497	broad.mit.edu	37	2	37268400	37268400	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:37268400C>T	ENST00000233099.5	-	19	2827	c.2732G>A	c.(2731-2733)gGt>gAt	p.G911D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G911D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	911						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAATGAATGACCAGTCCTAGA	0.388																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(2731-2733)gGt>gAt		HEAT repeat containing 5B							165.0	143.0	151.0					2																	37268400		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37268400C>T	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.2732G>A	2.37:g.37268400C>T	ENSP00000233099:p.Gly911Asp					HEATR5B_ENST00000354531.2_Missense_Mutation_p.G911D	p.G911D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			19	2827	-		all_hematologic(82;0.21)	911					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2732G>A	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237290	0.95240	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.05447	3.44;3.44	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33343	-0.9872	10	0.72032	D	0.01	-17.0715	19.3907	0.94581	0.0:1.0:0.0:0.0	.	911	Q9P2D3	HTR5B_HUMAN	D	911	ENSP00000233099:G911D;ENSP00000346531:G911D	ENSP00000233099:G911D	G	-	2	0	HEATR5B	37121904	1.000000	0.71417	0.961000	0.40146	0.989000	0.77384	7.729000	0.84864	2.569000	0.86673	0.655000	0.94253	GGT		0.388	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		24	71	0	0	0	1	0	24	71				
ABCB5	340273	broad.mit.edu	37	7	20767947	20767947	+	Silent	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:20767947G>A	ENST00000404938.2	+	23	3388	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_ENST00000258738.6_Silent_p.S467S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	912	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAATACCTCGAAGAAAGCAC	0.353																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2734-2736)tcG>tcA		ATP-binding cassette, sub-family B (MDR/TAP), member 5							134.0	140.0	138.0					7																	20767947		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20767947G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2736G>A	7.37:g.20767947G>A						ABCB5_ENST00000258738.6_Silent_p.S467S	p.S912S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			23	3388	+			467					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.2736G>A	CCDS55090.1																																																																																				0.353	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		52	145	0	0	0	1	0	52	145				
FBXL13	222235	broad.mit.edu	37	7	102453840	102453840	+	Missense_Mutation	SNP	T	T	G	rs141623741		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:102453840T>G	ENST00000313221.4	-	20	2583	c.2157A>C	c.(2155-2157)ttA>ttC	p.L719F	FBXL13_ENST00000456695.1_Missense_Mutation_p.L437F|FBXL13_ENST00000393772.2_Missense_Mutation_p.L691F|FBXL13_ENST00000379308.3_Missense_Mutation_p.L674F|FBXL13_ENST00000455112.2_Missense_Mutation_p.L674F|FBXL13_ENST00000379305.3_Missense_Mutation_p.L691F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L437F|FBXL13_ENST00000436908.1_Missense_Mutation_p.L719F	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	719										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTGTTAATTCTAAGGCTCCTT	0.418																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(2071-2073)ttA>ttC		F-box and leucine-rich repeat protein 13							240.0	208.0	219.0					7																	102453840		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102453840T>G	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.2157A>C	7.37:g.102453840T>G	ENSP00000321927:p.Leu719Phe					FBXL13_ENST00000456695.1_Missense_Mutation_p.L437F|FBXL13_ENST00000455112.2_Missense_Mutation_p.L674F|FBXL13_ENST00000436908.1_Missense_Mutation_p.L719F|FBXL13_ENST00000379305.3_Missense_Mutation_p.L691F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L437F|FBXL13_ENST00000313221.4_Missense_Mutation_p.L719F|FBXL13_ENST00000379308.3_Missense_Mutation_p.L674F	p.L691F			Q8NEE6	FXL13_HUMAN			19	2499	-			719					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.2073A>C	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941492	0.53079	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.10477	3.0;2.97;2.87;3.0;2.95;2.95;2.87;2.97	5.04	-0.202	0.13208	.	5.064460	0.00166	N	0.000012	T	0.09158	0.0226	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.43094	0.799;0.681;0.799;0.697	B;B;B;B	0.41764	0.366;0.221;0.366;0.201	T	0.16305	-1.0407	10	0.51188	T	0.08	.	4.2182	0.10545	0.1639:0.3883:0.0:0.4478	.	674;437;691;719	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	F	691;674;437;440;691;719;719;437;674	ENSP00000377367:L691F;ENSP00000368610:L674F;ENSP00000368608:L437F;ENSP00000368607:L691F;ENSP00000388608:L719F;ENSP00000321927:L719F;ENSP00000409716:L437F;ENSP00000391550:L674F	ENSP00000321927:L719F	L	-	3	2	FBXL13	102241076	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.033000	0.12246	0.060000	0.16281	0.482000	0.46254	TTA		0.418	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		44	98	0	0	0	1	0	44	98				
PELI2	57161	broad.mit.edu	37	14	56763754	56763754	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:56763754C>G	ENST00000267460.4	+	6	1419	c.1133C>G	c.(1132-1134)gCa>gGa	p.A378G		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	378					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GAGAAGTCTGCAAAATACTGG	0.532																																						ENST00000267460.4																			0				kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						c.(1132-1134)gCa>gGa		pellino E3 ubiquitin protein ligase family member 2							161.0	141.0	148.0					14																	56763754		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56763754C>G	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.1133C>G	14.37:g.56763754C>G	ENSP00000267460:p.Ala378Gly						p.A378G	NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN			6	1419	+			378					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.1133C>G	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238166	0.79800	.	.	ENSG00000139946	ENST00000267460	T	0.48522	0.81	5.83	5.83	0.93111	.	0.196791	0.53938	D	0.000056	T	0.58878	0.2153	M	0.78637	2.42	0.53005	D	0.999966	B	0.31413	0.322	B	0.37267	0.245	T	0.61327	-0.7085	10	0.87932	D	0	-23.1154	20.1155	0.97930	0.0:1.0:0.0:0.0	.	378	Q9HAT8	PELI2_HUMAN	G	378	ENSP00000267460:A378G	ENSP00000267460:A378G	A	+	2	0	PELI2	55833507	0.998000	0.40836	0.944000	0.38274	0.972000	0.66771	3.842000	0.55858	2.762000	0.94881	0.555000	0.69702	GCA		0.532	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			39	85	0	0	0	1	0	39	85				
KIAA1549L	25758	broad.mit.edu	37	11	33581347	33581347	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:33581347G>A	ENST00000321505.4	+	6	3197	c.3017G>A	c.(3016-3018)gGc>gAc	p.G1006D	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G1012D|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G1012D			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1006						integral component of membrane (GO:0016021)											TACGTCGTGGGCAATCAGAGC	0.577																																						ENST00000321505.4																			0											c.(3016-3018)gGc>gAc		KIAA1549-like							105.0	104.0	104.0					11																	33581347		2148	4249	6397	SO:0001583	missense	25758							g.chr11:33581347G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3017G>A	11.37:g.33581347G>A	ENSP00000315295:p.Gly1006Asp					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.G1012D|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.G1012D	p.G1006D							6	3197	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3017G>A	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.77|14.77	2.634406|2.634406	0.47049|0.47049	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.42|5.42	1.28|1.28	0.21552|0.21552	.|.	.|0.675630	.|0.15665	.|N	.|0.250705	T|T	0.15478|0.15478	0.0373|0.0373	N|N	0.08118|0.08118	0|0	0.25948|0.25948	N|N	0.982783|0.982783	.|P;B	.|0.39920	.|0.695;0.328	.|B;B	.|0.40285	.|0.325;0.121	T|T	0.10543|0.10543	-1.0625|-1.0625	5|9	.|0.45353	.|T	.|0.12	-2.8867|-2.8867	7.1085|7.1085	0.25376|0.25376	0.1525:0.4263:0.4212:0.0|0.1525:0.4263:0.4212:0.0	.|.	.|1012;1012	.|E9PAT2;Q6ZVL6-2	.|.;.	T|D	404|1006;1012;1012;845	.|.	.|ENSP00000265654:G1012D	A|G	+|+	1|2	0|0	C11orf41|C11orf41	33537923|33537923	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.206000|1.206000	0.32321|0.32321	0.319000|0.319000	0.23209|0.23209	0.573000|0.573000	0.79308|0.79308	GCA|GGC		0.577	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		4	180	0	0	0	1	0	4	180				
EPHA3	2042	broad.mit.edu	37	3	89259601	89259601	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:89259601G>A	ENST00000336596.2	+	3	970	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E249K|EPHA3_ENST00000452448.2_Missense_Mutation_p.E249K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	249	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.E249K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TACAGAAGGCGAATGGCTTGT	0.473										TSP Lung(6;0.00050)																												ENST00000336596.2																			1	Substitution - Missense(1)	p.E249K(1)	skin(1)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(745-747)Gaa>Aaa		EPH receptor A3							201.0	194.0	196.0					3																	89259601		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89259601G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.745G>A	3.37:g.89259601G>A	ENSP00000337451:p.Glu249Lys	TSP Lung(6;0.00050)				EPHA3_ENST00000452448.2_Missense_Mutation_p.E249K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E249K	p.E249K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	3	970	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	249			Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.745G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909486	0.92107	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.73047	-0.69;2.75;-0.71	5.93	5.93	0.95920	Tyrosine-protein kinase, receptor class V, conserved site (1);	0.132552	0.53938	D	0.000047	T	0.79845	0.4516	M	0.66506	2.035	0.80722	D	1	P;D	0.63880	0.902;0.993	B;P	0.53988	0.084;0.739	T	0.77953	-0.2394	9	.	.	.	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	249;249	P29320;P29320-2	EPHA3_HUMAN;.	K	249	ENSP00000337451:E249K;ENSP00000399926:E249K;ENSP00000419190:E249K	.	E	+	1	0	EPHA3	89342291	1.000000	0.71417	0.918000	0.36340	0.869000	0.49853	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	GAA		0.473	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		133	182	0	0	0	1	0	133	182				
NIPBL	25836	broad.mit.edu	37	5	36985704	36985704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:36985704C>T	ENST00000282516.8	+	10	2921	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R808*|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	808					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTGATGGGCGATCTGTTTC	0.428																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2422-2424)Cga>Tga		Nipped-B homolog (Drosophila)							63.0	63.0	63.0					5																	36985704		2203	4300	6503	SO:0001587	stop_gained	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985704C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2422C>T	5.37:g.36985704C>T	ENSP00000282516:p.Arg808*					NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R808*	p.R808*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		10	2921	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		808					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Nonsense_Mutation	SNP	ENST00000282516.8	37	c.2422C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	42	9.413494	0.99164	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	.	.	.	5.99	5.99	0.97316	.	0.084417	0.48767	D	0.000164	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.9809	15.2218	0.73316	0.1405:0.8595:0.0:0.0	.	.	.	.	X	808	.	ENSP00000282516:R808X	R	+	1	2	NIPBL	37021461	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.021000	0.49651	2.840000	0.97914	0.655000	0.94253	CGA		0.428	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		32	45	0	0	0	1	0	32	45				
ST3GAL3	6487	broad.mit.edu	37	1	44363948	44363948	+	Missense_Mutation	SNP	C	C	T	rs200149990		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:44363948C>T	ENST00000361392.4	+	7	616	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R185C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R116C|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R131C|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R185C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R147C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R216C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R116C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R131C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000262915.3_Missense_Mutation_p.R216C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R162C	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	147					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CAAAGAGTACCGCCTGACCCC	0.537																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(646-648)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							118.0	101.0	107.0					1																	44363948		2203	4300	6503	SO:0001583	missense	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44363948C>T	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.439C>T	1.37:g.44363948C>T	ENSP00000355341:p.Arg147Cys					ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R116C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R116C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R131C|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R185C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R216C|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R185C|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R131C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R162C	p.R216C	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			8	823	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	147					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Missense_Mutation	SNP	ENST00000361392.4	37	c.646C>T	CCDS492.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126544	0.77549	.	.	ENSG00000126091	ENST00000361392;ENST00000361400;ENST00000262915;ENST00000372375;ENST00000351035;ENST00000372374;ENST00000353126;ENST00000335430;ENST00000347631;ENST00000372369;ENST00000361746;ENST00000372367;ENST00000372366;ENST00000372365;ENST00000372368;ENST00000372372;ENST00000528371;ENST00000531993;ENST00000533933;ENST00000332628	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.57	4.57	0.56435	.	0.116434	0.64402	D	0.000012	T	0.48003	0.1476	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.994;0.996;0.999;0.995;0.996;0.999;0.997;0.989;0.999;0.997;0.999;0.995;0.999;0.997	P;P;P;D;P;P;P;P;P;P;P;P;P;P	0.71870	0.799;0.784;0.862;0.975;0.784;0.854;0.707;0.827;0.886;0.707;0.827;0.806;0.827;0.901	T	0.48514	-0.9029	10	0.56958	D	0.05	.	17.3035	0.87188	0.0:1.0:0.0:0.0	.	147;100;131;146;131;146;116;147;185;131;201;147;216;162	Q11203-5;Q11203-21;Q11203-17;Q11203-24;Q11203-16;Q11203-23;Q11203-7;Q11203-8;Q11203-19;Q11203-15;Q11203-13;Q11203;Q11203-4;Q5T4W8	.;.;.;.;.;.;.;.;.;.;.;SIAT6_HUMAN;.;.	C	147;131;216;201;185;116;147;131;162;147;216;146;146;147;201;185;131;131;147;116	ENSP00000355341:R147C;ENSP00000354748:R131C;ENSP00000262915:R216C;ENSP00000361450:R201C;ENSP00000316999:R185C;ENSP00000361449:R116C;ENSP00000330463:R147C;ENSP00000335633:R131C;ENSP00000317192:R162C;ENSP00000361444:R147C;ENSP00000354657:R216C;ENSP00000361442:R146C;ENSP00000361441:R146C;ENSP00000361440:R147C;ENSP00000361443:R201C;ENSP00000361447:R185C;ENSP00000434876:R131C;ENSP00000432682:R131C;ENSP00000432965:R147C;ENSP00000329755:R116C	ENSP00000262915:R216C	R	+	1	0	ST3GAL3	44136535	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	2.139000	0.42149	2.260000	0.74910	0.655000	0.94253	CGC		0.537	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		48	12	0	0	0	1	0	48	12				
DCHS2	54798	broad.mit.edu	37	4	155287390	155287390	+	Silent	SNP	C	C	T	rs78251264	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:155287390C>T	ENST00000357232.4	-	5	665	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_ENST00000339452.1_Silent_p.S816S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448													C|||	2	0.000399361	0.0	0.0	5008	,	,		20691	0.0		0.001	False		,,,				2504	0.001					ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(664-666)tcG>tcA		dachsous cadherin-related 2		C	,	2,4404	4.2+/-10.8	0,2,2201	149.0	132.0	138.0		2448,666	-11.4	0.0	4	dbSNP_131	138	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous,coding-synonymous	DCHS2	NM_001142552.1,NM_017639.3	,	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	,	816/1370,222/2917	155287390	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155287390C>T	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.666G>A	4.37:g.155287390C>T						DCHS2_ENST00000339452.1_Silent_p.S816S	p.S222S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	5	665	-	all_hematologic(180;0.208)	Renal(120;0.0854)	222			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.666G>A	CCDS3785.1																																																																																				0.448	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		20	38	0	0	0	1	0	20	38				
MUC2	4583	broad.mit.edu	37	11	1083749	1083749	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:1083749G>A	ENST00000441003.2	+	18	2308	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	MUC2_ENST00000359061.5_Missense_Mutation_p.A761T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	761					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCTGCACGGCCCCAAAGAT	0.701																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(2281-2283)Gcc>Acc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						17.0	20.0	19.0					11																	1083749		2055	4176	6231	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1083749G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2281G>A	11.37:g.1083749G>A	ENSP00000415183:p.Ala761Thr					MUC2_ENST00000359061.5_Missense_Mutation_p.A761T	p.A761T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	18	2308	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	761					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2281G>A		.	.	.	.	.	.	.	.	.	.	G	10.54	1.377745	0.24944	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.21734	1.99;1.99	4.07	-4.67	0.03319	.	1.527920	0.04298	U	0.346748	T	0.23611	0.0571	L	0.55213	1.73	0.09310	N	1	P	0.42203	0.773	B	0.44108	0.441	T	0.43925	-0.9361	10	0.42905	T	0.14	.	8.7847	0.34814	0.0:0.2298:0.1916:0.5787	.	761	E7EUV1	.	T	761	ENSP00000415183:A761T;ENSP00000351956:A761T	ENSP00000351956:A761T	A	+	1	0	MUC2	1073749	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	-0.500000	0.06405	-0.640000	0.05495	0.195000	0.17529	GCC		0.701	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		12	26	0	0	0	1	0	12	26				
SLC6A19	340024	broad.mit.edu	37	5	1219196	1219196	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:1219196C>T	ENST00000304460.10	+	9	1408	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	451					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTCATCCCCCCGAAGTGGCCC	0.607																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1351-1353)cCg>cTg		solute carrier family 6 (neutral amino acid transporter), member 19							161.0	136.0	144.0					5																	1219196		2202	4300	6502	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219196C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1352C>T	5.37:g.1219196C>T	ENSP00000305302:p.Pro451Leu						p.P451L	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	1408	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		451					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1352C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344992	0.24426	.	.	ENSG00000174358	ENST00000304460	T	0.72282	-0.64	4.55	0.468	0.16732	.	0.946794	0.08765	N	0.897239	T	0.53190	0.1781	N	0.08118	0	0.09310	N	1	B	0.24618	0.107	B	0.23574	0.047	T	0.42531	-0.9446	10	0.54805	T	0.06	.	14.3363	0.66592	0.3968:0.6032:0.0:0.0	.	451	Q695T7	S6A19_HUMAN	L	451	ENSP00000305302:P451L	ENSP00000305302:P451L	P	+	2	0	SLC6A19	1272196	0.000000	0.05858	0.004000	0.12327	0.733000	0.41908	0.859000	0.27858	-0.167000	0.10871	-0.500000	0.04577	CCG		0.607	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		3	38	0	0	0	1	0	3	38				
MYO10	4651	broad.mit.edu	37	5	16689996	16689996	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:16689996C>T	ENST00000513610.1	-	28	4287	c.3833G>A	c.(3832-3834)gGg>gAg	p.G1278E	MYO10_ENST00000274203.9_Missense_Mutation_p.G635E|MYO10_ENST00000427430.2_Missense_Mutation_p.G635E|MYO10_ENST00000515803.1_Missense_Mutation_p.G617E|MYO10_ENST00000505695.1_Missense_Mutation_p.G617E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1278	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATGTCGATCCCATTCTCCTT	0.463																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3832-3834)gGg>gAg		myosin X							183.0	178.0	179.0					5																	16689996		2071	4210	6281	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16689996C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3833G>A	5.37:g.16689996C>T	ENSP00000421280:p.Gly1278Glu					MYO10_ENST00000515803.1_Missense_Mutation_p.G617E|MYO10_ENST00000505695.1_Missense_Mutation_p.G617E|MYO10_ENST00000274203.9_Missense_Mutation_p.G635E|MYO10_ENST00000427430.2_Missense_Mutation_p.G635E	p.G1278E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			28	4287	-			1278			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3833G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120423	0.77323	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7	5.52	5.52	0.82312	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.37544	0.1007	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.94;0.995;0.983	T	0.05273	-1.0895	9	0.72032	D	0.01	.	19.036	0.92978	0.0:1.0:0.0:0.0	.	157;919;1278	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	E	1278;617;635;617;635	ENSP00000421280:G1278E;ENSP00000425051:G617E;ENSP00000274203:G635E;ENSP00000421170:G617E;ENSP00000391106:G635E	ENSP00000274203:G635E	G	-	2	0	MYO10	16742996	0.939000	0.31865	1.000000	0.80357	0.817000	0.46193	2.114000	0.41911	2.603000	0.88011	0.655000	0.94253	GGG		0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		11	49	0	0	0	1	0	11	49				
AP4E1	23431	broad.mit.edu	37	15	51289979	51289979	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:51289979T>C	ENST00000261842.5	+	18	2909	c.2803T>C	c.(2803-2805)Tgg>Cgg	p.W935R	AP4E1_ENST00000561397.1_3'UTR|AP4E1_ENST00000560508.1_Missense_Mutation_p.W860R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	935					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTATAAAATTTGGAAAGATGA	0.308																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(2803-2805)Tgg>Cgg		adaptor-related protein complex 4, epsilon 1 subunit							54.0	60.0	58.0					15																	51289979		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51289979T>C	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.2803T>C	15.37:g.51289979T>C	ENSP00000261842:p.Trp935Arg					AP4E1_ENST00000560508.1_Missense_Mutation_p.W860R|AP4E1_ENST00000561397.1_3'UTR	p.W935R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	18	2909	+			935					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.2803T>C	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087421	0.55968	.	.	ENSG00000081014	ENST00000261842	T	0.23552	1.9	5.2	5.2	0.72013	Coatomer, beta subunit, C-terminal (1);	0.320834	0.35903	N	0.002918	T	0.34861	0.0912	L	0.59436	1.845	0.46499	D	0.999078	P	0.42518	0.782	P	0.46585	0.521	T	0.11060	-1.0603	10	0.54805	T	0.06	0.3974	14.2599	0.66078	0.0:0.0:0.0:1.0	.	935	Q9UPM8	AP4E1_HUMAN	R	935	ENSP00000261842:W935R	ENSP00000261842:W935R	W	+	1	0	AP4E1	49077271	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.458000	0.66679	1.966000	0.57179	0.383000	0.25322	TGG		0.308	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			5	23	0	0	0	1	0	5	23				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	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.Q2741Q(3)|p.Q2742Q(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)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(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.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	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.chr12:132547138A>G	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.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	126	0	0	0	1	0	4	126				
OLFML2A	169611	broad.mit.edu	37	9	127572206	127572206	+	Missense_Mutation	SNP	C	C	T	rs534548756		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:127572206C>T	ENST00000373580.3	+	8	1474	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R278W	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	492	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GTACGACCTACGGCAGCGCTT	0.592																																						ENST00000373580.3																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						c.(1474-1476)Cgg>Tgg		olfactomedin-like 2A							117.0	91.0	100.0					9																	127572206		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127572206C>T	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.1474C>T	9.37:g.127572206C>T	ENSP00000362682:p.Arg492Trp					OLFML2A_ENST00000288815.5_Missense_Mutation_p.R278W	p.R492W	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN			8	1474	+			492			Olfactomedin-like.		Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.1474C>T	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835014	0.71373	.	.	ENSG00000185585	ENST00000342100;ENST00000373580;ENST00000288815	T;D	0.89552	1.39;-2.53	6.07	5.16	0.70880	Olfactomedin-like (3);	0.058981	0.64402	D	0.000006	D	0.93963	0.8067	M	0.83118	2.625	0.44168	D	0.996973	D;D	0.89917	0.999;1.0	D;D	0.65874	0.913;0.939	D	0.94545	0.7748	10	0.87932	D	0	.	13.0997	0.59212	0.4277:0.5723:0.0:0.0	.	278;492	Q68BL7-3;Q68BL7	.;OLM2A_HUMAN	W	184;492;278	ENSP00000362682:R492W;ENSP00000288815:R278W	ENSP00000288815:R278W	R	+	1	2	OLFML2A	126612027	0.984000	0.35163	1.000000	0.80357	0.934000	0.57294	0.567000	0.23608	1.534000	0.49203	0.655000	0.94253	CGG		0.592	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		60	90	0	0	0	1	0	60	90				
PXDNL	137902	broad.mit.edu	37	8	52233389	52233389	+	Silent	SNP	G	G	A	rs371941977		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:52233389G>A	ENST00000356297.4	-	22	4315	c.4215C>T	c.(4213-4215)gcC>gcT	p.A1405A	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1405	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCGCTCCTCGGCCTTCCTTG	0.527																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(4213-4215)gcC>gcT		peroxidasin homolog (Drosophila)-like		G		0,3896		0,0,1948	148.0	162.0	157.0		4215	-1.0	0.0	8		157	1,8287		0,1,4143	no	coding-synonymous	PXDNL	NM_144651.4		0,1,6091	AA,AG,GG		0.0121,0.0,0.0082		1405/1464	52233389	1,12183	1948	4144	6092	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52233389G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.4215C>T	8.37:g.52233389G>A						PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	p.A1405A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			22	4315	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1405			VWFC.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.4215C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.413718	0.01145	0.0	1.21E-4	ENSG00000147485	ENST00000522933	.	.	.	4.43	-0.977	0.10282	.	.	.	.	.	T	0.28101	0.0693	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24657	-1.0154	4	.	.	.	.	5.5602	0.17140	0.1731:0.0:0.5851:0.2418	.	.	.	.	L	479	.	.	P	-	2	0	PXDNL	52395942	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.113000	0.15499	-1.078000	0.03117	-2.048000	0.00412	CCG		0.527	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		115	115	0	0	0	1	0	115	115				
DBH	1621	broad.mit.edu	37	9	136507441	136507441	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:136507441C>G	ENST00000393056.2	+	3	611	c.599C>G	c.(598-600)cCc>cGc	p.P200R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	200					behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CTCCTGAAGCCCAATATCCCC	0.622																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(598-600)cCc>cGc		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)						60.0	58.0	58.0					9																	136507441		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136507441C>G	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.599C>G	9.37:g.136507441C>G	ENSP00000376776:p.Pro200Arg						p.P200R	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	611	+			200					Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.599C>G	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167588	0.38315	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.34859	1.34;1.34	4.97	4.97	0.65823	DOMON domain (1);Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	0.051665	0.85682	D	0.000000	T	0.51719	0.1691	M	0.81682	2.555	0.53688	D	0.999977	P	0.45011	0.848	P	0.47206	0.541	T	0.58923	-0.7550	10	0.51188	T	0.08	-16.3055	18.2251	0.89914	0.0:1.0:0.0:0.0	.	200	P09172	DOPO_HUMAN	R	200;137;137	ENSP00000376776:P200R;ENSP00000263611:P137R	ENSP00000263611:P137R	P	+	2	0	DBH	135497262	1.000000	0.71417	0.781000	0.31783	0.190000	0.23558	7.254000	0.78329	2.309000	0.77851	0.491000	0.48974	CCC		0.622	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		26	47	0	0	0	1	0	26	47				
LRP2	4036	broad.mit.edu	37	2	170101367	170101367	+	Missense_Mutation	SNP	C	C	T	rs143115109		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:170101367C>T	ENST00000263816.3	-	22	3551	c.3266G>A	c.(3265-3267)cGc>cAc	p.R1089H	LRP2_ENST00000443831.1_Missense_Mutation_p.R952H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1089	LDL-receptor class A 9. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAGTCGTTGCGTTTGTCACA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20464	0.0		0.001	False		,,,				2504	0.0					ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3265-3267)cGc>cAc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	HIS/ARG	0,4406		0,0,2203	219.0	172.0	188.0		3266	-1.3	0.0	2	dbSNP_134	188	2,8598	2.2+/-6.3	0,2,4298	no	missense	LRP2	NM_004525.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1089/4656	170101367	2,13004	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170101367C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3266G>A	2.37:g.170101367C>T	ENSP00000263816:p.Arg1089His					LRP2_ENST00000443831.1_Missense_Mutation_p.R952H	p.R1089H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	22	3551	-			1089			LDL-receptor class A 9.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3266G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	7.902	0.734707	0.15574	0.0	2.33E-4	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95307	-3.67;-3.67	5.95	-1.3	0.09259	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.561822	0.21430	N	0.074680	D	0.83631	0.5296	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.71523	-0.4567	10	0.31617	T	0.26	.	4.5438	0.12071	0.2158:0.1845:0.0:0.5997	.	952;1089	E9PC35;P98164	.;LRP2_HUMAN	H	1089;952	ENSP00000263816:R1089H;ENSP00000409813:R952H	ENSP00000263816:R1089H	R	-	2	0	LRP2	169809613	1.000000	0.71417	0.000000	0.03702	0.062000	0.15995	5.097000	0.64542	-0.370000	0.08016	-1.223000	0.01593	CGC		0.517	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		77	114	0	0	0	1	0	77	114				
EGF	1950	broad.mit.edu	37	4	110884445	110884445	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110884445G>A	ENST00000265171.5	+	9	1874	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	EGF_ENST00000503392.1_Missense_Mutation_p.A477T|EGF_ENST00000509793.1_Missense_Mutation_p.A435T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	477	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	AAAAAGCTGTGCAGCTTCAGG	0.423																																						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.(1429-1431)Gca>Aca		epidermal growth factor	Sulindac(DB00605)						172.0	159.0	164.0					4																	110884445		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.chr4:110884445G>A	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.1429G>A	4.37:g.110884445G>A	ENSP00000265171:p.Ala477Thr					EGF_ENST00000509793.1_Missense_Mutation_p.A435T|EGF_ENST00000503392.1_Missense_Mutation_p.A477T	p.A477T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	9	1874	+		Hepatocellular(203;0.0893)	477			EGF-like 4.		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1429G>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	5.912	0.352285	0.11182	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.87650	-2.28;-2.2;-1.88	5.84	1.57	0.23409	Epidermal growth factor-like (1);	0.986120	0.08325	N	0.963141	T	0.69575	0.3126	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.003	B;B;B	0.13407	0.005;0.009;0.008	T	0.55438	-0.8141	10	0.11794	T	0.64	.	3.6732	0.08281	0.5458:0.0:0.2642:0.19	.	477;435;477	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	T	435;477;477	ENSP00000424316:A435T;ENSP00000265171:A477T;ENSP00000421384:A477T	ENSP00000265171:A477T	A	+	1	0	EGF	111103894	0.911000	0.30947	0.017000	0.16124	0.256000	0.26092	1.864000	0.39469	0.368000	0.24481	0.655000	0.94253	GCA		0.423	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			62	94	0	0	0	1	0	62	94				
CIT	11113	broad.mit.edu	37	12	120151065	120151065	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:120151065T>C	ENST00000261833.7	-	34	4448	c.4396A>G	c.(4396-4398)Aag>Gag	p.K1466E	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.K1508E|MIR1178_ENST00000408396.1_RNA	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1466	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAATGTACTTCCTGTCCCAG	0.443																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(4522-4524)Aag>Gag		citron (rho-interacting, serine/threonine kinase 21)							236.0	232.0	233.0					12																	120151065		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120151065T>C	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4396A>G	12.37:g.120151065T>C	ENSP00000261833:p.Lys1466Glu					CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.K1466E	p.K1508E	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	35	4577	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1466			PH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.4522A>G	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620066	0.87460	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.67345	-0.23;-0.26	5.74	5.74	0.90152	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.76069	0.3936	M	0.63843	1.955	0.58432	D	0.999997	D;P;P	0.62365	0.991;0.888;0.925	P;B;P	0.55923	0.787;0.257;0.621	T	0.79127	-0.1931	10	0.87932	D	0	.	16.0326	0.80588	0.0:0.0:0.0:1.0	.	1508;1466;984	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	E	1508;1466	ENSP00000376306:K1508E;ENSP00000261833:K1466E	ENSP00000261833:K1466E	K	-	1	0	CIT	118635448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.185000	0.69588	0.528000	0.53228	AAG		0.443	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		131	154	0	0	0	1	0	131	154				
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr6:30955025G>A	ENST00000376296.3	+	2	1314	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	358	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S358N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642																																						ENST00000376296.3																			1	Substitution - Missense(1)	p.S358N(1)	lung(1)	NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1072-1074)aGc>aAc		mucin 21, cell surface associated							135.0	134.0	135.0					6																	30955025		2202	4298	6500	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30955025G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1073G>A	6.37:g.30955025G>A	ENSP00000365473:p.Ser358Asn					MUC21_ENST00000486149.2_5'UTR	p.S358N	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1314	+			358			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1073G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.638585	0.29157	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02863	4.13	4.44	1.37	0.22104	.	.	.	.	.	T	0.00724	0.0024	N	0.17082	0.46	0.09310	N	1	B	0.27498	0.18	B	0.29176	0.099	T	0.47509	-0.9112	9	0.36615	T	0.2	-6.2264	7.3385	0.26623	0.0985:0.4534:0.448:0.0	rs55763085	358	Q5SSG8	MUC21_HUMAN	N	208;358	ENSP00000365473:S358N	ENSP00000365473:S358N	S	+	2	0	MUC21	31063004	0.000000	0.05858	0.067000	0.19924	0.130000	0.20726	-0.612000	0.05616	0.590000	0.29694	-0.192000	0.12808	AGC		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		6	611	0	0	0	1	0	6	611				
MUC16	94025	broad.mit.edu	37	19	9084076	9084076	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:9084076G>T	ENST00000397910.4	-	1	7942	c.7739C>A	c.(7738-7740)aCa>aAa	p.T2580K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2580	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGTGGGTGTAGTTGGGGT	0.483																																						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.(7738-7740)aCa>aAa		mucin 16, cell surface associated							176.0	172.0	173.0					19																	9084076		1976	4165	6141	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084076G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7739C>A	19.37:g.9084076G>T	ENSP00000381008:p.Thr2580Lys						p.T2580K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	7942	-			2580			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7739C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.542	-0.306094	0.05458	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	0.225	0.225	0.15325	.	.	.	.	.	T	0.03959	0.0111	N	0.08118	0	.	.	.	D	0.54772	0.968	P	0.61874	0.895	T	0.45556	-0.9253	7	0.87932	D	0	.	.	.	.	.	2580	B5ME49	.	K	2580	ENSP00000381008:T2580K	ENSP00000381008:T2580K	T	-	2	0	MUC16	8945076	0.082000	0.21442	0.120000	0.21714	0.123000	0.20343	0.037000	0.13840	0.300000	0.22699	0.305000	0.20034	ACA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	120	1	0	1.15088e-07	1	1.20504e-07	15	120				
RP11-645C24.5	0	broad.mit.edu	37	16	21809167	21809167	+	lincRNA	SNP	G	G	A	rs141895991	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:21809167G>A	ENST00000567370.1	-	0	0				RRN3P1_ENST00000546471.1_RNA																							CAGACTCTGAGGATACTGCAA	0.338													.|||	359	0.0716853	0.0318	0.0764	5008	,	,		12924	0.1647		0.0318	False		,,,				2504	0.0675					ENST00000546471.1																			0																																																			0							g.chr16:21809167G>A																													16.37:g.21809167G>A														0	2028	-									RNA	SNP	ENST00000567370.1	37																																																																																						0.338	RP11-645C24.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430026.1			5	36	0	0	0	1	0	5	36				
MYOCD	93649	broad.mit.edu	37	17	12655844	12655844	+	Silent	SNP	G	G	A	rs150316964	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:12655844G>A	ENST00000343344.4	+	10	1239	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.P413P|AC005358.1_ENST00000609971.1_Silent_p.P317P			Q8IZQ8	MYCD_HUMAN	myocardin	413					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.P413P(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCCAGTGCCGAACTTTGGGG	0.552													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16652	0.0		0.0	False		,,,				2504	0.001					ENST00000425538.1																			2	Substitution - coding silent(2)	p.P413P(2)	lung(2)	breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1237-1239)ccG>ccA		myocardin		G	,,	12,4394	19.1+/-41.9	0,12,2191	111.0	103.0	106.0		1239,951,1239	-7.7	0.3	17	dbSNP_134	106	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	MYOCD	NM_001146312.1,NM_001146313.1,NM_153604.2	,,	0,12,6491	AA,AG,GG		0.0,0.2724,0.0923	,,	413/987,317/685,413/939	12655844	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655844G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1239G>A	17.37:g.12655844G>A						MYOCD_ENST00000395988.1_Silent_p.P317P|MYOCD_ENST00000343344.4_Silent_p.P413P	p.P413P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1439	+			413					Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.1239G>A	CCDS11163.1																																																																																				0.552	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		55	76	0	0	0	1	0	55	76				
CELF2	10659	broad.mit.edu	37	10	11363187	11363187	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr10:11363187G>C	ENST00000379261.4	+	11	1185	c.1093G>C	c.(1093-1095)Gga>Cga	p.G365R	CELF2_ENST00000537122.1_Missense_Mutation_p.G260R|CELF2_ENST00000416382.2_Missense_Mutation_p.G365R|CELF2_ENST00000427450.1_Missense_Mutation_p.G347R|CELF2_ENST00000315874.4_Missense_Mutation_p.G347R|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000399850.3_Missense_Mutation_p.G347R|CELF2_ENST00000354897.3_Missense_Mutation_p.G359R|CELF2_ENST00000354440.2_Missense_Mutation_p.G347R|CELF2_ENST00000450189.1_Missense_Mutation_p.G378R|CELF2_ENST00000542579.1_Missense_Mutation_p.G378R|CELF2_ENST00000608830.1_Missense_Mutation_p.G345R|CELF2_ENST00000417956.2_Missense_Mutation_p.G345R|CELF2_ENST00000609692.1_Missense_Mutation_p.G345R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	365	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GGCTCTGAATGGAGGACTTGG	0.517																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(1093-1095)Gga>Cga		CUGBP, Elav-like family member 2							123.0	119.0	121.0					10																	11363187		2047	4209	6256	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11363187G>C	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1093G>C	10.37:g.11363187G>C	ENSP00000368563:p.Gly365Arg					CELF2_ENST00000450189.1_Missense_Mutation_p.G378R|CELF2_ENST00000417956.2_Missense_Mutation_p.G345R|CELF2_ENST00000542579.1_Missense_Mutation_p.G378R|CELF2_ENST00000354897.3_Missense_Mutation_p.G359R|CELF2_ENST00000354440.2_Missense_Mutation_p.G347R|CELF2_ENST00000399850.3_Missense_Mutation_p.G347R|CELF2_ENST00000537122.1_Missense_Mutation_p.G260R|CELF2_ENST00000427450.1_Missense_Mutation_p.G347R|CELF2_ENST00000315874.3_Missense_Mutation_p.G347R|CELF2_ENST00000416382.2_Missense_Mutation_p.G365R	p.G365R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			11	1185	+			365			Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.1093G>C	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046072	0.93740	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.33	5.33	0.75918	.	0.152854	0.64402	D	0.000014	D	0.87803	0.6269	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.996;0.997;1.0	D	0.85210	0.1020	10	0.31617	T	0.26	-7.181	19.2874	0.94084	0.0:0.0:1.0:0.0	.	353;371;366;378;378;365	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	R	365;365;378;378;347;345;347;347;355;347;260;171	ENSP00000368563:G365R;ENSP00000406451:G365R;ENSP00000389951:G378R;ENSP00000443926:G378R;ENSP00000382743:G347R;ENSP00000404834:G345R;ENSP00000315328:G347R;ENSP00000346426:G347R;ENSP00000388530:G347R;ENSP00000438884:G260R	ENSP00000315328:G347R	G	+	1	0	CELF2	11403193	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.789000	0.95967	0.558000	0.71614	GGA		0.517	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				35	68	0	0	0	1	0	35	68				
GTF3C4	9329	broad.mit.edu	37	9	135546108	135546108	+	Silent	SNP	G	G	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546108G>T	ENST00000372146.4	+	1	687	c.123G>T	c.(121-123)ccG>ccT	p.P41P	DDX31_ENST00000544003.1_5'Flank|DDX31_ENST00000480876.1_5'Flank|GTF3C4_ENST00000483873.2_Silent_p.P41P|DDX31_ENST00000310532.2_5'Flank|DDX31_ENST00000372159.3_5'Flank|DDX31_ENST00000372153.1_5'Flank	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	41					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACGCGGCCCCGGGGCCCAGCG	0.761																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(121-123)ccG>ccT		general transcription factor IIIC, polypeptide 4, 90kDa							5.0	7.0	6.0					9																	135546108		2055	4086	6141	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135546108G>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.123G>T	9.37:g.135546108G>T						GTF3C4_ENST00000483873.2_Silent_p.P41P	p.P41P	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	1	687	+			41					Q5VZJ7	Silent	SNP	ENST00000372146.4	37	c.123G>T	CCDS6953.1																																																																																				0.761	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			3	0	1	0	0.150653	1	0.150653	3	0				
SSPO	23145	broad.mit.edu	37	7	149516518	149516518	+	RNA	SNP	G	G	A	rs555123515	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:149516518G>A	ENST00000378016.2	+	0	11921							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCATACCGTCCCCCTGGG	0.711													g|||	2	0.000399361	0.0	0.0	5008	,	,		15267	0.002		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin							15.0	20.0	18.0					7																	149516518		1959	4125	6084			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149516518G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149516518G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11921	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	47	0	0	0	1	0	8	47				
TAOK1	57551	broad.mit.edu	37	17	27849514	27849514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:27849514C>T	ENST00000261716.3	+	17	2644	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	709					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGGAAGTTCGACAACAGCC	0.398																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(2125-2127)Cga>Tga		TAO kinase 1							113.0	107.0	109.0					17																	27849514		2203	4300	6503	SO:0001587	stop_gained	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27849514C>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2125C>T	17.37:g.27849514C>T	ENSP00000261716:p.Arg709*					TAOK1_ENST00000536202.1_Intron	p.R709*	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		17	2644	+			709					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Nonsense_Mutation	SNP	ENST00000261716.3	37	c.2125C>T	CCDS32601.1	.	.	.	.	.	.	.	.	.	.	C	45	11.633693	0.99585	.	.	ENSG00000160551	ENST00000261716	.	.	.	5.81	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1714	0.72875	0.2571:0.7428:0.0:0.0	.	.	.	.	X	709	.	ENSP00000261716:R709X	R	+	1	2	TAOK1	24873640	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.055000	0.71103	1.441000	0.47550	-0.195000	0.12781	CGA		0.398	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		52	71	0	0	0	1	0	52	71				
ACE2	59272	broad.mit.edu	37	X	15609937	15609937	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chrX:15609937C>T	ENST00000252519.3	-	4	584	c.482G>A	c.(481-483)aGg>aAg	p.R161K	ACE2_ENST00000427411.1_Missense_Mutation_p.R161K			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	161					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AGCCCAGAGCCTCTCATTGTA	0.398																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(481-483)aGg>aAg		angiotensin I converting enzyme 2	Moexipril(DB00691)						196.0	192.0	194.0					X																	15609937		2203	4299	6502	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15609937C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.482G>A	X.37:g.15609937C>T	ENSP00000252519:p.Arg161Lys					ACE2_ENST00000252519.3_Missense_Mutation_p.R161K	p.R161K	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			5	698	-	Hepatocellular(33;0.183)		161					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.482G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639858	0.47153	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.32515	1.45;1.45	6.14	5.27	0.74061	.	0.047761	0.85682	N	0.000000	T	0.52757	0.1754	M	0.68593	2.085	0.29141	N	0.878991	P	0.39391	0.671	P	0.58780	0.845	T	0.54132	-0.8339	10	0.56958	D	0.05	-18.08	14.4186	0.67168	0.0:0.9283:0.0:0.0717	.	161	Q9BYF1	ACE2_HUMAN	K	161	ENSP00000252519:R161K;ENSP00000389326:R161K	ENSP00000252519:R161K	R	-	2	0	ACE2	15519858	1.000000	0.71417	0.978000	0.43139	0.673000	0.39480	4.181000	0.58303	1.345000	0.45676	0.596000	0.82720	AGG		0.398	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			6	277	0	0	0	1	0	6	277				
NCL	4691	broad.mit.edu	37	2	232320164	232320164	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:232320164delA	ENST00000322723.4	-	13	2244	c.2004delT	c.(2002-2004)ggtfs	p.G669fs	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	669	Arg/Gly/Phe-rich.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTCCTCTACCACCACCTCGTC	0.567																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(2002-2004)ggfs		nucleolin							155.0	162.0	160.0					2																	232320164		2203	4300	6503	SO:0001589	frameshift_variant	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232320164delA		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.2004delT	2.37:g.232320164delA	ENSP00000318195:p.Gly669fs						p.G669fs	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	13	2244	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	669			Arg/Gly/Phe-rich.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Frame_Shift_Del	DEL	ENST00000322723.4	37	c.2004delT	CCDS33397.1																																																																																				0.567	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		8	539						8	539	---	---	---	---
WNT16	51384	broad.mit.edu	37	7	120969426	120969426	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:120969426delC	ENST00000222462.2	+	1	370	c.80delC	c.(79-81)gccfs	p.A27fs	WNT16_ENST00000361301.2_Intron	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	27					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CCCTACGGAGCCCAAGGAAAC	0.647																																						ENST00000222462.2																			0				breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18						c.(79-81)gcfs		wingless-type MMTV integration site family, member 16							27.0	29.0	28.0					7																	120969426		2202	4300	6502	SO:0001589	frameshift_variant	51384				anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr7:120969426delC	AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.80delC	7.37:g.120969426delC	ENSP00000222462:p.Ala27fs					WNT16_ENST00000361301.2_Intron	p.A27fs	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN			1	370	+	all_neural(327;0.117)		27					Q2M3G1|Q9Y5C0	Frame_Shift_Del	DEL	ENST00000222462.2	37	c.80delC	CCDS5781.1																																																																																				0.647	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346843.1	NM_057168		33	25						33	25	---	---	---	---
ASB15	142685	broad.mit.edu	37	7	123269087	123269088	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:123269087_123269088delGA	ENST00000451558.1	+	12	1560_1561	c.1039_1040delGA	c.(1039-1041)gacfs	p.D348fs	ASB15_ENST00000434204.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000275699.3_Frame_Shift_Del_p.D348fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000540573.1_Frame_Shift_Del_p.D348fs			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCAGAGCTATGACGATGAGAGG	0.455																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1039-1041)cfs		ankyrin repeat and SOCS box containing 15																																				SO:0001589	frameshift_variant	142685				intracellular signal transduction			g.chr7:123269087_123269088delGA	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1039_1040delGA	7.37:g.123269087_123269088delGA	ENSP00000397655:p.Asp348fs					ASB15_ENST00000275699.3_Frame_Shift_Del_p.D348fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000540573.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.D348fs	p.D348fs			Q8WXK1	ASB15_HUMAN			12	1560_1561	+			348					Q3ZCP3|Q3ZCP5|Q68D37	Frame_Shift_Del	DEL	ENST00000451558.1	37	c.1039_1040delGA	CCDS34742.1																																																																																				0.455	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			55	162						55	162	---	---	---	---
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659|rs547816245|rs532078953	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:131241030_131241035delGGCGAC	ENST00000378555.3	-	1	331_336	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_ENST00000541194.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000322985.9_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000537928.1_In_Frame_Del_p.28_30PSP>P|PODXL_ENST00000465001.1_Intron			O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748																																						ENST00000541194.1																			2	Deletion - In frame(2)	p.P30_S31delPS(2)	prostate(2)	NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(82-90)ccc>cc		podocalyxin-like																																				SO:0001651	inframe_deletion	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131241030_131241035delGGCGAC		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.84_89delGTCGCC	7.37:g.131241036_131241041delGGCGAC	ENSP00000367817:p.Pro30_Ser31del					PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del	p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			1	341_346	-	Melanoma(18;0.162)		28					A6NHX8|Q52LZ7|Q53ER6	In_Frame_Del	DEL	ENST00000378555.3	37	c.84_89delGTCGCC	CCDS34755.1																																																																																				0.748	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		9	12						9	12	---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	26227744	26227761	+	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	AAGCCTCGCACAGTTCTG	-	rs369862992|rs567610910		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG	ENST00000380737.3	+	10	1488_1505	c.1159_1176delAAGCCTCGCACAGTTCTG	c.(1159-1176)aagcctcgcacagttctgdel	p.KPRTVL387del	PPP2R2A_ENST00000315985.7_In_Frame_Del_p.KPRTVL397del	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	387					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.R389H(1)|p.R389R(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAAAACAATAAGCCTCGCACAGTTCTGAAGCCTCGCA	0.431																																						ENST00000380737.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.R389H(1)|p.R389R(1)	large_intestine(1)|endometrium(1)	kidney(1)|large_intestine(2)|ovary(1)	4						c.(1159-1176)del		protein phosphatase 2, regulatory subunit B, alpha																																				SO:0001651	inframe_deletion	5520							g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.1159_1176delAAGCCTCGCACAGTTCTG	8.37:g.26227744_26227761delAAGCCTCGCACAGTTCTG	ENSP00000370113:p.Lys387_Leu392del					PPP2R2A_ENST00000315985.7_In_Frame_Del_p.KPRTVL397del	p.KPRTVL387del	NM_002717.3	NP_002708.1				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	10	1488_1505	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	In_Frame_Del	DEL	ENST00000380737.3	37	c.1159_1176delAAGCCTCGCACAGTTCTG	CCDS34867.1																																																																																				0.431	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		18	37						18	37	---	---	---	---
TSPAN32	10077	broad.mit.edu	37	11	2337873	2337874	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:2337873_2337874insG	ENST00000182290.4	+	8	832_833	c.695_696insG	c.(694-699)aagggcfs	p.KG232fs	TSPAN32_ENST00000381121.3_Frame_Shift_Ins_p.KG232fs|TSPAN32_ENST00000451520.2_Frame_Shift_Ins_p.KG221fs	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	232					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TTGGACCGCAAGGGCAAATACA	0.658																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(694-696)aggfs		tetraspanin 32																																				SO:0001589	frameshift_variant	10077				cell-cell signaling	integral to membrane		g.chr11:2337873_2337874insG	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.698dupG	11.37:g.2337876_2337876dupG	ENSP00000182290:p.Lys232fs					TSPAN32_ENST00000451520.2_Frame_Shift_Ins_p.R221fs|TSPAN32_ENST00000381121.3_Frame_Shift_Ins_p.R232fs	p.R232fs	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	8	832_833	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	232					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Frame_Shift_Ins	INS	ENST00000182290.4	37	c.695_696insG	CCDS7733.1																																																																																				0.658	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		75	78						75	78	---	---	---	---
SLCO2B1	11309	broad.mit.edu	37	11	74904334	74904335	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:74904334_74904335insTG	ENST00000289575.5	+	9	1542_1543	c.1147_1148insTG	c.(1147-1149)ttgfs	p.L383fs	SLCO2B1_ENST00000454962.2_Frame_Shift_Ins_p.L156fs|SLCO2B1_ENST00000341411.4_Frame_Shift_Ins_p.L156fs|SLCO2B1_ENST00000525650.1_Frame_Shift_Ins_p.L239fs|SLCO2B1_ENST00000531756.1_Frame_Shift_Ins_p.L128fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Ins_p.L361fs|SLCO2B1_ENST00000532236.1_Frame_Shift_Ins_p.L267fs	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	383					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CCAGGTATGCTTGTCATCCATG	0.624																																						ENST00000289575.5																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1147-1149)gtcfs		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)																																			SO:0001589	frameshift_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904334_74904335insTG	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1148_1149dupTG	11.37:g.74904335_74904336dupTG	ENSP00000289575:p.Leu383fs					SLCO2B1_ENST00000341411.4_Frame_Shift_Ins_p.V156fs|SLCO2B1_ENST00000531756.1_Frame_Shift_Ins_p.V128fs|SLCO2B1_ENST00000532236.1_Frame_Shift_Ins_p.V267fs|SLCO2B1_ENST00000454962.2_Frame_Shift_Ins_p.V156fs|SLCO2B1_ENST00000525650.1_Frame_Shift_Ins_p.V239fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Ins_p.V361fs	p.V383fs	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			9	1542_1543	+			383					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Frame_Shift_Ins	INS	ENST00000289575.5	37	c.1147_1148insTG	CCDS8235.1																																																																																				0.624	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		71	91						71	91	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102745470	102745473	+	RNA	DEL	CAAA	CAAA	-	rs28360358	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:102745470_102745473delCAAA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TACGTAAaagcaaacaaacaaaca	0.324														1218	0.243211	0.416	0.1542	5008	,	,		22019	0.1567		0.2157	False		,,,				2504	0.1902					ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102745470_102745473delCAAA	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102745478_102745481delCAAA										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	199	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	DEL	ENST00000532855.1	37																																																																																						0.324	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		5	6						5	6	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	3						3	3	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795608	42795609	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:42795608_42795609insC	ENST00000575354.2	+	10	2728_2729	c.2688_2689insC	c.(2689-2691)cccfs	p.P897fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.P897fs|CIC_ENST00000572681.2_Frame_Shift_Ins_p.P1806fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	897	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCCGCCCCACCCCCCAAAGG	0.609			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5413-5418)ccccccfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795608_42795609insC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2694dupC	19.37:g.42795614_42795614dupC	ENSP00000458663:p.Pro897fs					CIC_ENST00000160740.3_Frame_Shift_Ins_p.PP896fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.PP896fs	p.PP1805fs			Q96RK0	CIC_HUMAN			11	5483_5484	+		Prostate(69;0.00682)	896					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.5415_5416insC	CCDS12601.1																																																																																				0.609	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			88	17						88	17	---	---	---	---
