#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
GNLY	10578	broad.mit.edu	37	2	85922485	85922485	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:85922485C>A	ENST00000263863.4	+	2	223	c.95C>A	c.(94-96)gCa>gAa	p.A32E	GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000524600.1_Missense_Mutation_p.A59E|GNLY_ENST00000409696.3_Missense_Mutation_p.A17E	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	32					cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						TACGACCTGGCAAGAGCCCAC	0.622																																						ENST00000409696.3																			0				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(49-51)gCa>gAa		granulysin							87.0	70.0	76.0					2																	85922485		2203	4300	6503	SO:0001583	missense	10578				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr2:85922485C>A	X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"""T-lymphocyte activation gene 519"""	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.95C>A	2.37:g.85922485C>A	ENSP00000263863:p.Ala32Glu					GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000263863.4_Missense_Mutation_p.A32E|GNLY_ENST00000524600.1_Missense_Mutation_p.A59E	p.A17E	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN			3	332	+			32					P09325|Q6GU08	Missense_Mutation	SNP	ENST00000263863.4	37	c.50C>A	CCDS1984.1	.	.	.	.	.	.	.	.	.	.	C	9.926	1.213442	0.22289	.	.	ENSG00000115523	ENST00000263863;ENST00000524600;ENST00000409696	T;T;T	0.57273	0.41;0.43;0.45	1.64	-3.06	0.05379	.	1.428150	0.04765	U	0.427079	T	0.29914	0.0748	N	0.19112	0.55	0.09310	N	1	P;P	0.37233	0.588;0.588	B;B	0.31442	0.13;0.13	T	0.10200	-1.0640	10	0.44086	T	0.13	.	2.7478	0.05272	0.2194:0.2876:0.0:0.493	.	59;32	B4E3H9;P22749	.;GNLY_HUMAN	E	32;59;17	ENSP00000263863:A32E;ENSP00000436423:A59E;ENSP00000387116:A17E	ENSP00000263863:A32E	A	+	2	0	GNLY	85775996	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.382000	0.07408	-1.002000	0.03429	0.306000	0.20318	GCA		0.622	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252497.1	NM_006433		16	29	1	0	1.45105e-14	1	1.82948e-14	16	29				
WSCD2	9671	broad.mit.edu	37	12	108589958	108589958	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:108589958G>T	ENST00000332082.4	+	3	1167	c.349G>T	c.(349-351)Ggg>Tgg	p.G117W	WSCD2_ENST00000261400.3_Missense_Mutation_p.G117W|WSCD2_ENST00000549903.1_Missense_Mutation_p.G117W|WSCD2_ENST00000547525.1_Missense_Mutation_p.G117W			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	117						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGCCCTCAAGGGGAGGGTTGT	0.572																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(349-351)Ggg>Tgg		WSC domain containing 2							36.0	38.0	38.0					12																	108589958		1979	4147	6126	SO:0001583	missense	9671					integral to membrane		g.chr12:108589958G>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.349G>T	12.37:g.108589958G>T	ENSP00000331933:p.Gly117Trp					WSCD2_ENST00000261400.3_Missense_Mutation_p.G117W|WSCD2_ENST00000547525.1_Missense_Mutation_p.G117W|WSCD2_ENST00000549903.1_Missense_Mutation_p.G117W	p.G117W			Q2TBF2	WSCD2_HUMAN			3	1167	+			117					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.349G>T	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979612	0.92982	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.6	5.6	0.85130	.	0.163511	0.56097	D	0.000039	T	0.54775	0.1879	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.51965	-0.8638	10	0.51188	T	0.08	-29.6736	18.5769	0.91158	0.0:0.0:1.0:0.0	.	117	Q2TBF2	WSCD2_HUMAN	W	117	ENSP00000448047:G117W;ENSP00000261400:G117W;ENSP00000331933:G117W;ENSP00000447272:G117W	ENSP00000261400:G117W	G	+	1	0	WSCD2	107114088	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.212000	0.77941	2.617000	0.88574	0.655000	0.94253	GGG		0.572	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		18	30	1	0	3.52763e-06	1	3.85505e-06	18	30				
ZZEF1	23140	broad.mit.edu	37	17	3912962	3912962	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:3912962C>T	ENST00000381638.2	-	53	8793	c.8669G>A	c.(8668-8670)gGc>gAc	p.G2890D		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2890							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AAGGAGGATGCCGGGCTGCGT	0.627																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(8668-8670)gGc>gAc		zinc finger, ZZ-type with EF-hand domain 1							109.0	88.0	95.0					17																	3912962		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3912962C>T	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8669G>A	17.37:g.3912962C>T	ENSP00000371051:p.Gly2890Asp						p.G2890D	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			53	8793	-			2890					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.8669G>A	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751600	0.69533	.	.	ENSG00000074755	ENST00000381638	T	0.24151	1.87	5.94	4.97	0.65823	.	0.301443	0.38164	N	0.001795	T	0.22244	0.0536	L	0.27053	0.805	0.48901	D	0.999728	B	0.32324	0.364	B	0.32724	0.151	T	0.04796	-1.0926	10	0.87932	D	0	-5.4721	16.5719	0.84615	0.1316:0.8684:0.0:0.0	.	2890	O43149	ZZEF1_HUMAN	D	2890	ENSP00000371051:G2890D	ENSP00000371051:G2890D	G	-	2	0	ZZEF1	3859711	1.000000	0.71417	0.988000	0.46212	0.970000	0.65996	4.176000	0.58269	1.513000	0.48852	0.643000	0.83706	GGC		0.627	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		4	108	0	0	0	1	0	4	108				
KCNJ3	3760	broad.mit.edu	37	2	155711766	155711766	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:155711766A>G	ENST00000295101.2	+	3	1924	c.1447A>G	c.(1447-1449)Agg>Ggg	p.R483G		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	483					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGGAGCAGCTAGGATGGAAGG	0.413																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1447-1449)Agg>Ggg		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						29.0	30.0	30.0					2																	155711766		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711766A>G	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1447A>G	2.37:g.155711766A>G	ENSP00000295101:p.Arg483Gly						p.R483G	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1924	+			483					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1447A>G	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	A	13.82	2.350126	0.41599	.	.	ENSG00000162989	ENST00000295101	D	0.90788	-2.73	5.66	5.66	0.87406	.	0.296876	0.41823	D	0.000809	D	0.85212	0.5645	L	0.32530	0.975	0.80722	D	1	P	0.37781	0.608	B	0.35413	0.202	D	0.86546	0.1831	10	0.87932	D	0	.	12.5613	0.56283	0.8618:0.1382:0.0:0.0	.	483	P48549	IRK3_HUMAN	G	483	ENSP00000295101:R483G	ENSP00000295101:R483G	R	+	1	2	KCNJ3	155420012	1.000000	0.71417	0.942000	0.38095	0.998000	0.95712	5.877000	0.69675	2.285000	0.76669	0.533000	0.62120	AGG		0.413	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		9	17	0	0	0	1	0	9	17				
PIAS2	9063	broad.mit.edu	37	18	44392405	44392405	+	Silent	SNP	T	T	G	rs529198093		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:44392405T>G	ENST00000585916.1	-	14	1856	c.1857A>C	c.(1855-1857)tcA>tcC	p.S619S		NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	619					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TTTAGTCCAATGAGATGATGT	0.418																																						ENST00000585916.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(1855-1857)tcA>tcC		protein inhibitor of activated STAT, 2							148.0	114.0	126.0					18																	44392405		2203	4300	6503	SO:0001819	synonymous_variant	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44392405T>G	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1857A>C	18.37:g.44392405T>G							p.S619S	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN			14	1856	-			619					O75927|Q96BT5|Q96KE3	Silent	SNP	ENST00000585916.1	37	c.1857A>C	CCDS32824.1																																																																																				0.418	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671		10	7	0	0	0	1	0	10	7				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			4	111	0	0	0	1	0	4	111				
CFAP53	220136	broad.mit.edu	37	18	47788587	47788587	+	Silent	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:47788587T>C	ENST00000398545.4	-	2	189	c.72A>G	c.(70-72)agA>agG	p.R24R		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		GAGGCTTGGATCTCTGAAAAC	0.368																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(70-72)agA>agG		coiled-coil domain containing 11							77.0	72.0	74.0					18																	47788587		1869	4109	5978	SO:0001819	synonymous_variant	220136							g.chr18:47788587T>C																												ENST00000398545.4:c.72A>G	18.37:g.47788587T>C							p.R24R	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	2	189	-			24						Silent	SNP	ENST00000398545.4	37	c.72A>G	CCDS11940.2																																																																																				0.368	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			17	20	0	0	0	1	0	17	20				
GLI2	2736	broad.mit.edu	37	2	121747727	121747727	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:121747727G>C	ENST00000452319.1	+	14	4297	c.4237G>C	c.(4237-4239)Gca>Cca	p.A1413P	GLI2_ENST00000361492.4_Missense_Mutation_p.A1413P|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCAGGAAACAGCAGAGGCTGT	0.687																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4237-4239)Gca>Cca		GLI family zinc finger 2							30.0	33.0	32.0					2																	121747727		2203	4299	6502	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747727G>C		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4237G>C	2.37:g.121747727G>C	ENSP00000390436:p.Ala1413Pro					GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.A1413P	p.A1413P			P10070	GLI2_HUMAN			14	4297	+	Renal(3;0.0496)	Prostate(154;0.0623)	1413						Missense_Mutation	SNP	ENST00000452319.1	37	c.4237G>C	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	4.334	0.061331	0.08339	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.15372	2.43;2.43	4.57	1.64	0.23874	.	0.648539	0.14846	N	0.294999	T	0.13713	0.0332	L	0.50333	1.59	0.35077	D	0.763058	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.13710	-1.0499	9	.	.	.	.	5.5405	0.17036	0.3512:0.1349:0.5139:0.0	.	1413;1068	P10070;P10070-2	GLI2_HUMAN;.	P	1413	ENSP00000390436:A1413P;ENSP00000354586:A1413P	.	A	+	1	0	GLI2	121464197	0.001000	0.12720	0.920000	0.36463	0.036000	0.12997	0.400000	0.20932	0.127000	0.18452	0.455000	0.32223	GCA		0.687	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		20	40	0	0	0	1	0	20	40				
CHST13	166012	broad.mit.edu	37	3	126261332	126261332	+	Missense_Mutation	SNP	C	C	G	rs148180435		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:126261332C>G	ENST00000319340.2	+	3	987	c.937C>G	c.(937-939)Ccc>Gcc	p.P313A		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	313					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GGACATCAGCCCCTTCTACCA	0.697																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(937-939)Ccc>Gcc		carbohydrate (chondroitin 4) sulfotransferase 13							9.0	10.0	9.0					3																	126261332		1767	3666	5433	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126261332C>G	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.937C>G	3.37:g.126261332C>G	ENSP00000317404:p.Pro313Ala						p.P313A	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	987	+			313					Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.937C>G	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401801	0.25291	.	.	ENSG00000180767	ENST00000319340	T	0.74842	-0.88	3.89	3.89	0.44902	.	0.066665	0.64402	U	0.000009	T	0.69278	0.3093	L	0.52573	1.65	0.80722	D	1	B	0.34103	0.437	B	0.40329	0.326	T	0.63594	-0.6602	10	0.10111	T	0.7	-33.3686	13.3638	0.60671	0.0:1.0:0.0:0.0	.	313	Q8NET6	CHSTD_HUMAN	A	313	ENSP00000317404:P313A	ENSP00000317404:P313A	P	+	1	0	CHST13	127744022	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	3.016000	0.49607	1.706000	0.51276	0.313000	0.20887	CCC		0.697	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		4	17	0	0	0	1	0	4	17				
SFMBT2	57713	broad.mit.edu	37	10	7205850	7205850	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:7205850A>T	ENST00000361972.4	-	21	2657	c.2567T>A	c.(2566-2568)cTg>cAg	p.L856Q	SFMBT2_ENST00000397167.1_Missense_Mutation_p.L856Q	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	856	SAM.				negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGTCAGAAGCAGGAGTGCTTG	0.557																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2566-2568)cTg>cAg		Scm-like with four mbt domains 2							75.0	65.0	68.0					10																	7205850		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7205850A>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2567T>A	10.37:g.7205850A>T	ENSP00000355109:p.Leu856Gln					SFMBT2_ENST00000397167.1_Missense_Mutation_p.L856Q	p.L856Q	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			21	2657	-			856			SAM.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2567T>A	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.417644	0.62622	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.22134	1.97;1.97	5.61	5.61	0.85477	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70575	-0.4834	10	0.87932	D	0	.	15.8067	0.78520	1.0:0.0:0.0:0.0	.	856	Q5VUG0	SMBT2_HUMAN	Q	856	ENSP00000355109:L856Q;ENSP00000380353:L856Q	ENSP00000355109:L856Q	L	-	2	0	SFMBT2	7245856	1.000000	0.71417	0.484000	0.27391	0.116000	0.19942	9.185000	0.94900	2.131000	0.65755	0.533000	0.62120	CTG		0.557	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		17	54	0	0	0	1	0	17	54				
FBN1	2200	broad.mit.edu	37	15	48719886	48719886	+	Nonsense_Mutation	SNP	G	G	T	rs397515844		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:48719886G>T	ENST00000316623.5	-	58	7537	c.7082C>A	c.(7081-7083)tCg>tAg	p.S2361*		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2361	TB 9.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCAGCATTCCGATTTGGTGAC	0.552																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(7081-7083)tCg>tAg		fibrillin 1							116.0	103.0	107.0					15																	48719886		2198	4296	6494	SO:0001587	stop_gained	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48719886G>T	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7082C>A	15.37:g.48719886G>T	ENSP00000325527:p.Ser2361*						p.S2361*	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	58	7537	-		all_lung(180;0.00279)	2361			TB 9.		B2RUU0|D2JYH6|Q15972|Q75N87	Nonsense_Mutation	SNP	ENST00000316623.5	37	c.7082C>A	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	50	17.027289	0.99877	.	.	ENSG00000166147	ENST00000316623	.	.	.	5.44	4.51	0.55191	.	0.055159	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	16.1427	0.81536	0.0:0.1339:0.8661:0.0	.	.	.	.	X	2361	.	ENSP00000325527:S2361X	S	-	2	0	FBN1	46507178	1.000000	0.71417	0.909000	0.35828	0.960000	0.62799	9.813000	0.99286	1.414000	0.47017	0.650000	0.86243	TCG		0.552	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			23	33	1	0	1.10513e-12	1	1.34458e-12	23	33				
GDNF	2668	broad.mit.edu	37	5	37815944	37815944	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:37815944A>G	ENST00000326524.2	-	3	644	c.445T>C	c.(445-447)Tgc>Cgc	p.C149R	GDNF_ENST00000515058.1_Missense_Mutation_p.C123R|GDNF_ENST00000344622.4_Missense_Mutation_p.C123R|GDNF_ENST00000381826.4_Missense_Mutation_p.C140R|GDNF_ENST00000427982.1_Missense_Mutation_p.C166R	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	149					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GCTGCATCGCAAGAGCCGCTG	0.453																																						ENST00000326524.2																			0				NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15						c.(445-447)Tgc>Cgc		glial cell derived neurotrophic factor							117.0	116.0	116.0					5																	37815944		2203	4300	6503	SO:0001583	missense	2668				adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity	g.chr5:37815944A>G		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.445T>C	5.37:g.37815944A>G	ENSP00000317145:p.Cys149Arg					GDNF_ENST00000515058.1_Missense_Mutation_p.C123R|GDNF_ENST00000427982.1_Missense_Mutation_p.C166R|GDNF_ENST00000381826.4_Missense_Mutation_p.C140R|GDNF_ENST00000344622.4_Missense_Mutation_p.C123R	p.C149R	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN			3	644	-	all_lung(31;0.00118)		149					B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	ENST00000326524.2	37	c.445T>C	CCDS3922.1	.	.	.	.	.	.	.	.	.	.	A	17.63	3.436702	0.62955	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826	D;D;D;D;D	0.99598	-6.26;-6.26;-6.26;-6.26;-6.26	5.76	5.76	0.90799	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.82716	2.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.997;1.0;1.0	D	0.97983	1.0350	10	0.87932	D	0	-28.7049	16.0659	0.80870	1.0:0.0:0.0:0.0	.	149;140;166;123	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	R	149;123;123;166;140	ENSP00000317145:C149R;ENSP00000339703:C123R;ENSP00000425928:C123R;ENSP00000409007:C166R;ENSP00000371248:C140R	ENSP00000317145:C149R	C	-	1	0	GDNF	37851701	1.000000	0.71417	0.920000	0.36463	0.964000	0.63967	8.962000	0.93254	2.209000	0.71365	0.533000	0.62120	TGC		0.453	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514		23	179	0	0	0	1	0	23	179				
FAT4	79633	broad.mit.edu	37	4	126412471	126412471	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:126412471G>T	ENST00000394329.3	+	17	14507	c.14494G>T	c.(14494-14496)Ggc>Tgc	p.G4832C	FAT4_ENST00000335110.5_Missense_Mutation_p.G3073C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4832					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCAGCGGATGGCATTCCAGC	0.483																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(14494-14496)Ggc>Tgc		FAT atypical cadherin 4							63.0	64.0	63.0					4																	126412471		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412471G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14494G>T	4.37:g.126412471G>T	ENSP00000377862:p.Gly4832Cys					FAT4_ENST00000335110.5_Missense_Mutation_p.G3073C	p.G4832C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	14507	+			4832					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14494G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649110	0.29336	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76316	-0.83;-1.01	5.19	5.19	0.71726	.	0.000000	0.35067	U	0.003472	D	0.84192	0.5418	L	0.60455	1.87	0.58432	D	0.999995	D;D;D	0.69078	0.992;0.987;0.997	P;P;P	0.60345	0.873;0.641;0.873	D	0.83567	0.0110	10	0.39692	T	0.17	.	17.7328	0.88383	0.0:0.0:1.0:0.0	.	3073;4832;4831	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	C	4832;3073	ENSP00000377862:G4832C;ENSP00000335169:G3073C	ENSP00000335169:G3073C	G	+	1	0	FAT4	126631921	1.000000	0.71417	0.843000	0.33291	0.076000	0.17211	7.477000	0.81069	2.425000	0.82216	0.491000	0.48974	GGC		0.483	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		26	79	1	0	3.28513e-13	1	4.02373e-13	26	79				
ANO7	50636	broad.mit.edu	37	2	242135264	242135264	+	Intron	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:242135264C>T	ENST00000274979.8	+	4	574				ANO7_ENST00000402430.3_Intron|ANO7_ENST00000402530.3_Missense_Mutation_p.R158C	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7						calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AGACCAGGTACGTGGAGGCTG	0.617																																						ENST00000402530.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(472-474)Cgt>Tgt		anoctamin 7							106.0	94.0	98.0					2																	242135264		2203	4300	6503	SO:0001627	intron_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242135264C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.471+4C>T	2.37:g.242135264C>T						ANO7_ENST00000274979.8_Intron|ANO7_ENST00000402430.3_Intron	p.R158C	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN			4	575	+			0					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.472C>T	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	9.382	1.073180	0.20147	.	.	ENSG00000146205	ENST00000402530	T	0.51325	0.71	2.82	-1.55	0.08558	.	.	.	.	.	T	0.32556	0.0833	.	.	.	0.22127	N	0.999348	B	0.06786	0.001	B	0.01281	0.0	T	0.30090	-0.9990	8	0.87932	D	0	.	6.3832	0.21546	0.0:0.4649:0.0:0.5351	.	158	Q6IWH7-2	.	C	158	ENSP00000383985:R158C	ENSP00000383985:R158C	R	+	1	0	ANO7	241783937	0.004000	0.15560	0.008000	0.14137	0.011000	0.07611	-0.893000	0.04127	-0.276000	0.09206	-0.715000	0.03620	CGT		0.617	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		37	59	0	0	0	1	0	37	59				
RCAN2	10231	broad.mit.edu	37	6	46190881	46190881	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:46190881G>A	ENST00000330430.6	-	4	779	c.591C>T	c.(589-591)aaC>aaT	p.N197N	RCAN2_ENST00000371374.1_Silent_p.N243N|RCAN2_ENST00000405162.1_Silent_p.N243N|RCAN2_ENST00000306764.7_Silent_p.N243N	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	197					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)	p.N197K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGGCAGCTCAGTTGGACACGG	0.483																																						ENST00000371374.1																			1	Substitution - Missense(1)	p.N197K(1)	haematopoietic_and_lymphoid_tissue(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(727-729)aaC>aaT		regulator of calcineurin 2							181.0	208.0	200.0					6																	46190881		1989	4166	6155	SO:0001819	synonymous_variant	10231				calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	g.chr6:46190881G>A	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.591C>T	6.37:g.46190881G>A						RCAN2_ENST00000405162.1_Silent_p.N243N|RCAN2_ENST00000306764.7_Silent_p.N243N|RCAN2_ENST00000330430.6_Silent_p.N197N	p.N243N	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN			5	920	-			197					A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Silent	SNP	ENST00000330430.6	37	c.729C>T	CCDS43469.1																																																																																				0.483	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1			65	100	0	0	0	1	0	65	100				
VPRBP	9730	broad.mit.edu	37	3	51458118	51458118	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:51458118C>G	ENST00000335891.5	-	7	968	c.959G>C	c.(958-960)aGc>aCc	p.S320T				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	769	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CCGGACAGTGCTACTGCGAGA	0.562																																						ENST00000335891.5																			0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(958-960)aGc>aCc		Vpr (HIV-1) binding protein							99.0	94.0	96.0					3																	51458118		1996	4169	6165	SO:0001583	missense	9730				interspecies interaction between organisms	cytoplasm|nucleus	protein binding	g.chr3:51458118C>G	AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.959G>C	3.37:g.51458118C>G	ENSP00000338857:p.Ser320Thr						p.S320T			Q9Y4B6	VPRBP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)	7	968	-			769					Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	ENST00000335891.5	37	c.959G>C		.	.	.	.	.	.	.	.	.	.	C	11.83	1.755914	0.31137	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.42131	0.98;0.98	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.081429	0.85682	D	0.000000	T	0.33702	0.0872	N	0.19112	0.55	0.41295	D	0.987006	B	0.02656	0.0	B	0.08055	0.003	T	0.05435	-1.0885	10	0.40728	T	0.16	-9.0976	20.0989	0.97860	0.0:1.0:0.0:0.0	.	769	Q9Y4B6	VPRBP_HUMAN	T	340;320	ENSP00000393183:S340T;ENSP00000338857:S320T	ENSP00000338857:S320T	S	-	2	0	VPRBP	51433158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.050000	0.49877	2.764000	0.94973	0.650000	0.86243	AGC		0.562	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014703		58	39	0	0	0	1	0	58	39				
NYNRIN	57523	broad.mit.edu	37	14	24877399	24877399	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:24877399G>A	ENST00000382554.3	+	3	841	c.523G>A	c.(523-525)Gca>Aca	p.A175T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	175					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGACCAGCATGCAGGGGACCT	0.697																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(523-525)Gca>Aca		NYN domain and retroviral integrase containing							15.0	19.0	18.0					14																	24877399		2001	4162	6163	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24877399G>A	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.523G>A	14.37:g.24877399G>A	ENSP00000371994:p.Ala175Thr						p.A175T	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			3	841	+			175					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.523G>A	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160280	0.57368	.	.	ENSG00000205978	ENST00000382554	T	0.09445	2.98	5.06	4.1	0.47936	.	0.106561	0.35235	N	0.003343	T	0.03263	0.0095	N	0.01009	-1.055	0.23920	N	0.996462	P	0.38078	0.617	B	0.31245	0.126	T	0.39522	-0.9610	10	0.40728	T	0.16	.	12.4908	0.55899	0.0:0.0:0.823:0.177	.	175	Q9P2P1	NYNRI_HUMAN	T	175	ENSP00000371994:A175T	ENSP00000371994:A175T	A	+	1	0	NYNRIN	23947239	0.184000	0.23200	1.000000	0.80357	0.997000	0.91878	1.885000	0.39678	2.619000	0.88677	0.655000	0.94253	GCA		0.697	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			7	11	0	0	0	1	0	7	11				
FLG	2312	broad.mit.edu	37	1	152277643	152277643	+	Missense_Mutation	SNP	C	C	T	rs188183903	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:152277643C>T	ENST00000368799.1	-	3	9754	c.9719G>A	c.(9718-9720)cGt>cAt	p.R3240H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3240	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R3240H(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACAGATCCACGATGGTTTCT	0.587									Ichthyosis				T|||	3	0.000599042	0.0	0.0	5008	,	,		19741	0.003		0.0	False		,,,				2504	0.0					ENST00000368799.1																			2	Substitution - Missense(2)	p.R3240H(2)	large_intestine(1)|prostate(1)	autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9718-9720)cGt>cAt		filaggrin							209.0	216.0	214.0					1																	152277643		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277643C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9719G>A	1.37:g.152277643C>T	ENSP00000357789:p.Arg3240His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.R3240H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9754	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3240			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9719G>A	CCDS30860.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	3.777	-0.046533	0.07407	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00816	5.66	3.23	-6.47	0.01902	.	.	.	.	.	T	0.00073	0.0002	N	0.03209	-0.39	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.46569	-0.9182	9	0.02654	T	1	.	0.5789	0.00708	0.3237:0.2717:0.225:0.1796	.	3240	P20930	FILA_HUMAN	H	3240;178	ENSP00000357789:R3240H	ENSP00000357786:R178H	R	-	2	0	FLG	150544267	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	-2.877000	0.00320	-2.017000	0.00434	CGT		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		163	274	0	0	0	1	0	163	274				
BRINP2	57795	broad.mit.edu	37	1	177245544	177245544	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:177245544C>T	ENST00000361539.4	+	6	1298	c.986C>T	c.(985-987)aCt>aTt	p.T329I	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	329					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											TCCTGGGCCACTCACAACCGG	0.562																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(985-987)aCt>aTt									60.0	54.0	56.0					1																	177245544		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177245544C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.986C>T	1.37:g.177245544C>T	ENSP00000354481:p.Thr329Ile					FAM5B_ENST00000478325.1_3'UTR	p.T329I	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			6	1298	+			329					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.986C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776636	0.31411	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.14516	2.5	6.07	4.2	0.49525	.	0.329472	0.35378	N	0.003242	T	0.07548	0.0190	N	0.17082	0.46	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.0	B;B;B	0.09377	0.004;0.004;0.001	T	0.21861	-1.0233	10	0.38643	T	0.18	-5.2327	5.5023	0.16834	0.145:0.64:0.0:0.215	.	79;224;329	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	I	79;329	ENSP00000354481:T329I	ENSP00000354481:T329I	T	+	2	0	FAM5B	175512167	0.000000	0.05858	0.911000	0.35937	0.991000	0.79684	-0.306000	0.08178	1.567000	0.49668	0.655000	0.94253	ACT		0.562	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		9	47	0	0	0	1	0	9	47				
MAGEB18	286514	broad.mit.edu	37	X	26158077	26158077	+	Silent	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:26158077T>C	ENST00000325250.1	+	2	1162	c.975T>C	c.(973-975)gcT>gcC	p.A325A		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	325	Interaction with LNX1.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CTCATACTGCTGCCATGGCAA	0.512																																						ENST00000325250.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(973-975)gcT>gcC		melanoma antigen family B, 18							49.0	28.0	35.0					X																	26158077		2202	4300	6502	SO:0001819	synonymous_variant	286514						protein binding	g.chrX:26158077T>C	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.975T>C	X.37:g.26158077T>C							p.A325A	NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN			2	1162	+			325						Silent	SNP	ENST00000325250.1	37	c.975T>C	CCDS14216.1																																																																																				0.512	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		8	2	0	0	0	1	0	8	2				
MYEF2	50804	broad.mit.edu	37	15	48443709	48443709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:48443709C>A	ENST00000324324.7	-	13	1546	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	MYEF2_ENST00000267836.6_Nonsense_Mutation_p.G423*	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	423	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TGATTTATTCCAATATCACCA	0.383																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1267-1269)Gga>Tga		myelin expression factor 2							241.0	253.0	249.0					15																	48443709		2198	4297	6495	SO:0001587	stop_gained	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48443709C>A	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1267G>T	15.37:g.48443709C>A	ENSP00000316950:p.Gly423*					MYEF2_ENST00000267836.6_Nonsense_Mutation_p.G423*	p.G423*	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	13	1546	-		all_lung(180;0.00217)	423			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Nonsense_Mutation	SNP	ENST00000324324.7	37	c.1267G>T	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	C	39	7.456782	0.98296	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	.	.	.	5.81	4.89	0.63831	.	0.224316	0.45606	D	0.000342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-10.6672	14.3121	0.66422	0.0:0.9291:0.0:0.0709	.	.	.	.	X	423;423;35	.	ENSP00000267836:G423X	G	-	1	0	MYEF2	46231001	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.439000	0.52878	2.756000	0.94617	0.655000	0.94253	GGA		0.383	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		160	309	1	0	1.1324e-67	1	1.70796e-67	160	309				
SLC14A2	8170	broad.mit.edu	37	18	43204711	43204711	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:43204711C>A	ENST00000255226.6	+	2	898	c.82C>A	c.(82-84)Ccg>Acg	p.P28T	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P28T	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	28					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTACCAGCCCGAGCTGGCC	0.572																																						ENST00000255226.6																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(82-84)Ccg>Acg		solute carrier family 14 (urea transporter), member 2							78.0	73.0	75.0					18																	43204711		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43204711C>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.82C>A	18.37:g.43204711C>A	ENSP00000255226:p.Pro28Thr					SLC14A2_ENST00000586448.1_Missense_Mutation_p.P28T	p.P28T	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			2	898	+			28					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.82C>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	8.301	0.819835	0.16678	.	.	ENSG00000132874	ENST00000255226;ENST00000323329	T;T	0.65916	0.4;-0.18	5.18	2.28	0.28536	.	0.484707	0.19269	N	0.118471	T	0.48874	0.1524	L	0.41027	1.25	0.29449	N	0.858623	B;B	0.17038	0.001;0.02	B;B	0.12156	0.002;0.007	T	0.42015	-0.9476	10	0.41790	T	0.15	-5.5308	7.8392	0.29389	0.3303:0.5101:0.1597:0.0	.	28;28	Q15849;E7EPU1	UT2_HUMAN;.	T	28	ENSP00000255226:P28T;ENSP00000320689:P28T	ENSP00000255226:P28T	P	+	1	0	SLC14A2	41458709	0.662000	0.27439	0.892000	0.35008	0.219000	0.24729	1.509000	0.35780	0.160000	0.19432	0.462000	0.41574	CCG		0.572	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			48	25	1	0	8.86878e-18	1	1.16652e-17	48	25				
GIT1	28964	broad.mit.edu	37	17	27903557	27903557	+	Missense_Mutation	SNP	G	G	A	rs538711253		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:27903557G>A	ENST00000225394.3	-	13	1611	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	GIT1_ENST00000581348.1_Missense_Mutation_p.R464W|GIT1_ENST00000579937.1_Missense_Mutation_p.R455W|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.R464W	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	455					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGCAGCCTCCGGAGCTCGTCG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19577	0.0		0.0	False		,,,				2504	0.0				Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1363-1365)Cgg>Tgg		G protein-coupled receptor kinase interacting ArfGAP 1							70.0	67.0	68.0					17																	27903557		2203	4300	6503	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903557G>A	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1363C>T	17.37:g.27903557G>A	ENSP00000225394:p.Arg455Trp					GIT1_ENST00000581348.1_Missense_Mutation_p.R464W|GIT1_ENST00000579937.1_Missense_Mutation_p.R455W|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.R464W	p.R455W	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	13	1611	-			455					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.1363C>T	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138185	0.77775	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.72942	-0.63;-0.7	4.69	1.5	0.22942	.	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.71036	2.16	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74023	0.973;0.982;0.96;0.973	T	0.77723	-0.2481	10	0.87932	D	0	.	8.5059	0.33186	0.0732:0.0:0.6545:0.2723	.	468;464;464;455	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	W	455;464	ENSP00000225394:R455W;ENSP00000378338:R464W	ENSP00000225394:R455W	R	-	1	2	GIT1	24927683	0.907000	0.30839	0.989000	0.46669	0.905000	0.53344	1.006000	0.29847	0.279000	0.22186	0.448000	0.29417	CGG		0.622	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		37	74	0	0	0	1	0	37	74				
FILIP1	27145	broad.mit.edu	37	6	76024585	76024585	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:76024585C>T	ENST00000237172.7	-	5	1293	c.963G>A	c.(961-963)ctG>ctA	p.L321L	FILIP1_ENST00000370020.1_Silent_p.L222L|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Silent_p.L321L	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	321										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTTGATTAGCCAGTTTAGCGT	0.423																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(961-963)ctG>ctA		filamin A interacting protein 1							140.0	132.0	135.0					6																	76024585		2203	4300	6503	SO:0001819	synonymous_variant	27145							g.chr6:76024585C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.963G>A	6.37:g.76024585C>T						FILIP1_ENST00000370020.1_Silent_p.L222L|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.L321L	p.L321L			Q7Z7B0	FLIP1_HUMAN			5	1184	-			321					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	ENST00000237172.7	37	c.963G>A	CCDS4984.1																																																																																				0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		36	89	0	0	0	1	0	36	89				
UNC13C	440279	broad.mit.edu	37	15	54804027	54804027	+	Splice_Site	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:54804027A>T	ENST00000260323.11	+	23	5456	c.5456A>T	c.(5455-5457)gAg>gTg	p.E1819V	UNC13C_ENST00000537900.1_Splice_Site_p.E1817V|UNC13C_ENST00000545554.1_Splice_Site_p.E1819V	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1819					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGAGGGAAGGAGGTGGGTATC	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.e23+1		unc-13 homolog C (C. elegans)							55.0	55.0	55.0					15																	54804027		1822	4104	5926	SO:0001630	splice_region_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54804027A>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5457+1A>T	15.37:g.54804027A>T						UNC13C_ENST00000537900.1_Splice_Site_p.E1817_splice|UNC13C_ENST00000260323.11_Splice_Site_p.E1819_splice	p.E1819_splice			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	23	5456	+			1819					Q0P613|Q8ND48|Q96NP3	Splice_Site	SNP	ENST00000260323.11	37	c.5457_splice	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	18.44	3.625170	0.66901	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.15139	2.45;2.45;2.45	5.69	5.69	0.88448	.	0.059066	0.64402	D	0.000002	T	0.21227	0.0511	L	0.60455	1.87	0.53688	D	0.99997	B	0.27853	0.191	B	0.26770	0.073	T	0.01648	-1.1304	10	0.62326	D	0.03	.	15.1306	0.72520	1.0:0.0:0.0:0.0	.	1819	Q8NB66	UN13C_HUMAN	V	1819;1819;1817	ENSP00000260323:E1819V;ENSP00000438156:E1819V;ENSP00000442569:E1817V	ENSP00000260323:E1819V	E	+	2	0	UNC13C	52591319	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.908000	0.75730	2.164000	0.68074	0.460000	0.39030	GAG		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	Missense_Mutation	7	13	0	0	0	1	0	7	13				
POLE	5426	broad.mit.edu	37	12	133252047	133252047	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:133252047C>A	ENST00000320574.5	-	12	1206	c.1163G>T	c.(1162-1164)gGc>gTc	p.G388V	POLE_ENST00000535270.1_Missense_Mutation_p.G361V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	388					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTTCTGGAAGCCTATCTCCTG	0.612								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(1162-1164)gGc>gTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							111.0	97.0	101.0					12																	133252047		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133252047C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1163G>T	12.37:g.133252047C>A	ENSP00000322570:p.Gly388Val					POLE_ENST00000535270.1_Missense_Mutation_p.G361V	p.G388V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	12	1206	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	388					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.1163G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214265	0.95104	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577;ENST00000535934	T;T;T;T;T	0.55234	4.41;4.41;4.41;0.53;2.99	5.91	5.91	0.95273	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.80292	0.4596	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83531	0.0091	10	0.87932	D	0	.	20.2946	0.98546	0.0:1.0:0.0:0.0	.	361;388	F5H1D6;Q07864	.;DPOE1_HUMAN	V	388;399;361;168;323;6	ENSP00000322570:G388V;ENSP00000406383:G399V;ENSP00000445753:G361V;ENSP00000442519:G168V;ENSP00000443213:G6V	ENSP00000322570:G388V	G	-	2	0	POLE	131762120	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.736000	0.84948	2.804000	0.96469	0.462000	0.41574	GGC		0.612	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		29	81	1	0	2.65835e-16	1	3.45917e-16	29	81				
ABCC5	10057	broad.mit.edu	37	3	183699570	183699570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:183699570G>T	ENST00000334444.6	-	8	1332	c.1092C>A	c.(1090-1092)taC>taA	p.Y364*	ABCC5_ENST00000265586.6_Nonsense_Mutation_p.Y364*|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	364	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TAAATTTAATGTAAGTAAGAA	0.408																																						ENST00000334444.6																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1090-1092)taC>taA		ATP-binding cassette, sub-family C (CFTR/MRP), member 5							85.0	83.0	84.0					3																	183699570		1868	4100	5968	SO:0001587	stop_gained	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183699570G>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.1092C>A	3.37:g.183699570G>T	ENSP00000333926:p.Tyr364*					ABCC5_ENST00000265586.6_Nonsense_Mutation_p.Y364*|ABCC5_ENST00000492216.1_5'UTR	p.Y364*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		8	1332	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		364			ABC transmembrane type-1 1.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Nonsense_Mutation	SNP	ENST00000334444.6	37	c.1092C>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	39	7.496977	0.98319	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	.	.	.	5.73	2.01	0.26516	.	0.057945	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3196	10.4096	0.44285	0.2617:0.0:0.7383:0.0	.	.	.	.	X	364;300;364	.	ENSP00000265586:Y364X	Y	-	3	2	ABCC5	185182264	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	3.482000	0.53186	0.100000	0.17581	-0.140000	0.14226	TAC		0.408	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		42	64	1	0	4.16155e-14	1	5.18418e-14	42	64				
GLUL	2752	broad.mit.edu	37	1	182355445	182355445	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:182355445C>A	ENST00000331872.6	-	4	961	c.421G>T	c.(421-423)Ggg>Tgg	p.G141W	GLUL_ENST00000311223.5_Missense_Mutation_p.G141W|GLUL_ENST00000339526.4_Missense_Mutation_p.G141W|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.G141W	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	141					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CCATCTGTCCCCATGAGGGTA	0.527																																						ENST00000311223.5																			0				endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16						c.(421-423)Ggg>Tgg		glutamate-ammonia ligase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						127.0	127.0	127.0					1																	182355445		2203	4300	6503	SO:0001583	missense	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182355445C>A	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.421G>T	1.37:g.182355445C>A	ENSP00000356537:p.Gly141Trp					GLUL_ENST00000331872.6_Missense_Mutation_p.G141W|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Missense_Mutation_p.G141W|GLUL_ENST00000417584.2_Missense_Mutation_p.G141W	p.G141W	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN			5	1317	-			141					Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	c.421G>T	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738837	0.89573	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.3	4.38	0.52667	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92916	0.7746	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93529	0.6868	10	0.87932	D	0	-26.0197	13.0964	0.59195	0.0:0.9192:0.0:0.0808	.	141	P15104	GLNA_HUMAN	W	141	ENSP00000356537:G141W;ENSP00000307900:G141W;ENSP00000398320:G141W;ENSP00000344958:G141W	ENSP00000307900:G141W	G	-	1	0	GLUL	180622068	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.556000	0.82233	2.454000	0.82982	0.655000	0.94253	GGG		0.527	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		43	233	1	0	2.26627e-22	1	3.13924e-22	43	233				
CRB1	23418	broad.mit.edu	37	1	197403841	197403841	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:197403841G>A	ENST00000367400.3	+	9	2983	c.2848G>A	c.(2848-2850)Gca>Aca	p.A950T	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.A838T|CRB1_ENST00000367397.1_Missense_Mutation_p.A331T|CRB1_ENST00000535699.1_Missense_Mutation_p.A926T|CRB1_ENST00000544212.1_Missense_Mutation_p.A431T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	950	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTAGGTATTGCAAATGCTGT	0.294																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(991-993)Gca>Aca		crumbs homolog 1 (Drosophila)							60.0	64.0	63.0					1																	197403841		2201	4297	6498	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197403841G>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2848G>A	1.37:g.197403841G>A	ENSP00000356370:p.Ala950Thr					CRB1_ENST00000535699.1_Missense_Mutation_p.A926T|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.A950T|CRB1_ENST00000367399.2_Missense_Mutation_p.A838T|CRB1_ENST00000544212.1_Missense_Mutation_p.A431T	p.A331T			P82279	CRUM1_HUMAN			5	1849	+			950			EGF-like 8.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.991G>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	7.847	0.723101	0.15439	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.34	4.41	0.53225	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86121	0.5857	L	0.51422	1.61	0.32626	N	0.522615	B;D;B;D	0.60160	0.275;0.961;0.158;0.987	B;P;B;P	0.54590	0.116;0.756;0.056;0.638	D	0.87768	0.2603	9	0.62326	D	0.03	.	9.3396	0.38071	0.0755:0.1461:0.7784:0.0	.	926;838;599;950	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	T	926;950;838;431;331;599	ENSP00000438786:A926T;ENSP00000356370:A950T;ENSP00000356369:A838T;ENSP00000444556:A431T;ENSP00000356367:A331T	ENSP00000356367:A331T	A	+	1	0	CRB1	195670464	1.000000	0.71417	0.936000	0.37596	0.020000	0.10135	2.388000	0.44398	1.193000	0.43086	0.655000	0.94253	GCA		0.294	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		44	35	0	0	0	1	0	44	35				
PTPRD	5789	broad.mit.edu	37	9	8492937	8492937	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:8492937G>A	ENST00000381196.4	-	24	2935	c.2392C>T	c.(2392-2394)Ctc>Ttc	p.L798F	PTPRD_ENST00000356435.5_Missense_Mutation_p.L798F|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L785F|PTPRD_ENST00000358503.5_Missense_Mutation_p.L776F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.L798F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	798	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGACGGTGAGGGAGTAGGAA	0.488										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(2392-2394)Ctc>Ttc		protein tyrosine phosphatase, receptor type, D							220.0	183.0	196.0					9																	8492937		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8492937G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2392C>T	9.37:g.8492937G>A	ENSP00000370593:p.Leu798Phe	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.L798F|PTPRD_ENST00000540109.1_Missense_Mutation_p.L798F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L785F|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000358503.5_Missense_Mutation_p.L776F|PTPRD_ENST00000397611.3_Intron	p.L798F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	24	2935	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	798			Fibronectin type-III 5.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.2392C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	3.460	-0.110266	0.06924	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.52754	0.65;0.65;0.65;2.62;0.65	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.187466	0.47093	D	0.000247	T	0.18257	0.0438	N	0.01624	-0.795	0.36889	D	0.889787	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.005;0.003;0.008	T	0.27971	-1.0058	9	.	.	.	.	8.0815	0.30748	0.0858:0.0:0.7551:0.1592	.	785;798;798	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	F	798;798;785;776;798	ENSP00000370593:L798F;ENSP00000348812:L798F;ENSP00000353187:L785F;ENSP00000351293:L776F;ENSP00000438164:L798F	.	L	-	1	0	PTPRD	8482937	1.000000	0.71417	0.999000	0.59377	0.771000	0.43674	2.637000	0.46553	2.542000	0.85734	0.484000	0.47621	CTC		0.488	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			52	41	0	0	0	1	0	52	41				
DAAM2	23500	broad.mit.edu	37	6	39832218	39832218	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:39832218G>T	ENST00000398904.2	+	4	450	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	DAAM2_ENST00000274867.4_Missense_Mutation_p.D90Y|DAAM2_ENST00000538976.1_Missense_Mutation_p.D90Y|DAAM2_ENST00000494405.1_3'UTR			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	90	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGAGCAGGAGGACCCCAACAA	0.582																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(268-270)Gac>Tac		dishevelled associated activator of morphogenesis 2							73.0	73.0	73.0					6																	39832218		1985	4188	6173	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39832218G>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.268G>T	6.37:g.39832218G>T	ENSP00000381876:p.Asp90Tyr					DAAM2_ENST00000398904.2_Missense_Mutation_p.D90Y|DAAM2_ENST00000274867.4_Missense_Mutation_p.D90Y|DAAM2_ENST00000494405.1_3'UTR	p.D90Y	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			4	450	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		90			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.268G>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.807306	0.90623	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.87729	-2.29;-2.29;-2.29	5.76	5.76	0.90799	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.90627	0.4564	10	0.66056	D	0.02	.	18.7435	0.91784	0.0:0.0:1.0:0.0	.	90;90	G5EA45;Q86T65	.;DAAM2_HUMAN	Y	90	ENSP00000274867:D90Y;ENSP00000381876:D90Y;ENSP00000437808:D90Y	ENSP00000274867:D90Y	D	+	1	0	DAAM2	39940196	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.869000	0.99810	2.724000	0.93272	0.462000	0.41574	GAC		0.582	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			6	15	1	0	2.0095e-06	1	2.20591e-06	6	15				
PRLR	5618	broad.mit.edu	37	5	35065775	35065775	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:35065775A>G	ENST00000382002.5	-	10	1711	c.1285T>C	c.(1285-1287)Tct>Cct	p.S429P	PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.S328P|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S328P|PRLR_ENST00000509934.1_5'Flank	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	429					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TTGTGGTAAGAGGATCTGGGG	0.498																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1285-1287)Tct>Cct		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						130.0	135.0	133.0					5																	35065775		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065775A>G		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1285T>C	5.37:g.35065775A>G	ENSP00000371432:p.Ser429Pro					PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.S328P|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S328P|PRLR_ENST00000231423.3_Intron	p.S429P	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1711	-	all_lung(31;3.83e-05)		429					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1285T>C	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	A	3.588	-0.084181	0.07097	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	T;T;T	0.79141	-1.24;-1.24;-1.24	5.8	3.57	0.40892	.	0.312530	0.39834	N	0.001254	T	0.67739	0.2925	L	0.49778	1.585	0.25018	N	0.991356	B;B	0.13594	0.008;0.004	B;B	0.20384	0.029;0.008	T	0.57260	-0.7842	10	0.39692	T	0.17	-8.1678	4.4888	0.11803	0.5991:0.1824:0.2185:0.0	.	429;328	P16471;P16471-2	PRLR_HUMAN;.	P	328;429;328	ENSP00000339213:S328P;ENSP00000371432:S429P;ENSP00000422556:S328P	ENSP00000339213:S328P	S	-	1	0	PRLR	35101532	1.000000	0.71417	0.842000	0.33263	0.001000	0.01503	3.929000	0.56514	0.547000	0.28938	-0.256000	0.11100	TCT		0.498	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			29	231	0	0	0	1	0	29	231				
GSG1L	146395	broad.mit.edu	37	16	27818821	27818821	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:27818821C>A	ENST00000447459.2	-	6	969	c.885G>T	c.(883-885)gaG>gaT	p.E295D	GSG1L_ENST00000395724.3_Missense_Mutation_p.E244D|GSG1L_ENST00000380897.3_Missense_Mutation_p.E140D|GSG1L_ENST00000569166.1_Missense_Mutation_p.E158D|GSG1L_ENST00000380898.2_Missense_Mutation_p.E158D	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like	295					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CAGGGTATCTCTCGTGGCGGC	0.507																																						ENST00000380898.2																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						c.(472-474)gaG>gaT		GSG1-like							80.0	64.0	69.0					16																	27818821		2196	4300	6496	SO:0001583	missense	146395					integral to membrane		g.chr16:27818821C>A	AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.885G>T	16.37:g.27818821C>A	ENSP00000394954:p.Glu295Asp					GSG1L_ENST00000569166.1_Missense_Mutation_p.E158D|GSG1L_ENST00000447459.2_Missense_Mutation_p.E295D|GSG1L_ENST00000380897.3_Missense_Mutation_p.E140D|GSG1L_ENST00000395724.3_Missense_Mutation_p.E244D	p.E158D			Q6UXU4	GSG1L_HUMAN			7	1023	-			295					Q7Z6F8|Q8TB81	Missense_Mutation	SNP	ENST00000447459.2	37	c.474G>T	CCDS45450.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647209	0.29246	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	T;T	0.34275	1.42;1.37	3.81	3.81	0.43845	.	0.353767	0.28952	N	0.013607	T	0.25121	0.0610	N	0.14661	0.345	0.27725	N	0.944984	P;P;P	0.45474	0.859;0.512;0.779	P;B;B	0.44477	0.451;0.275;0.264	T	0.08534	-1.0717	10	0.48119	T	0.1	7.7062	11.5171	0.50529	0.0:1.0:0.0:0.0	.	244;158;295	Q6UXU4-3;Q6UXU4-4;Q6UXU4	.;.;GSG1L_HUMAN	D	295;244;158;140	ENSP00000394954:E295D;ENSP00000379074:E244D	ENSP00000370282:E140D	E	-	3	2	GSG1L	27726322	0.998000	0.40836	0.954000	0.39281	0.688000	0.40055	0.650000	0.24858	2.426000	0.82243	0.561000	0.74099	GAG		0.507	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433832.2	NM_144675		10	24	1	0	3.86212e-05	1	4.13394e-05	10	24				
SYNRG	11276	broad.mit.edu	37	17	35932028	35932028	+	Silent	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:35932028T>C	ENST00000339208.6	-	9	1100	c.960A>G	c.(958-960)aaA>aaG	p.K320K	SYNRG_ENST00000345615.4_Silent_p.K242K|SYNRG_ENST00000585472.1_Silent_p.K241K|SYNRG_ENST00000502449.2_Silent_p.K242K|SYNRG_ENST00000394378.2_Silent_p.K242K|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000346661.4_Silent_p.K320K|SYNRG_ENST00000591288.1_Silent_p.K242K	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	320	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				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						TGGGATACAGTTTGGCAGTAT	0.403																																						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.(958-960)aaA>aaG		synergin, gamma							167.0	161.0	163.0					17																	35932028		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35932028T>C	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.960A>G	17.37:g.35932028T>C						SYNRG_ENST00000502449.2_Silent_p.K242K|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Silent_p.K241K|SYNRG_ENST00000345615.4_Silent_p.K242K|SYNRG_ENST00000346661.4_Silent_p.K320K|SYNRG_ENST00000394378.2_Silent_p.K242K|SYNRG_ENST00000591288.1_Silent_p.K242K	p.K320K	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN			9	1100	-			320			EH.		A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.960A>G	CCDS11321.1																																																																																				0.403	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		44	87	0	0	0	1	0	44	87				
DNM3	26052	broad.mit.edu	37	1	172356363	172356363	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:172356363C>A	ENST00000355305.5	+	19	2324	c.2167C>A	c.(2167-2169)Cag>Aag	p.Q723K	DNM3_ENST00000367731.1_Missense_Mutation_p.Q713K|DNM3_ENST00000358155.4_Missense_Mutation_p.Q717K			Q9UQ16	DYN3_HUMAN	dynamin 3	723	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGAGCAGGCTCAGCGCCGGGA	0.507																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2149-2151)Cag>Aag		dynamin 3							80.0	82.0	82.0					1																	172356363		1932	4139	6071	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172356363C>A	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.2167C>A	1.37:g.172356363C>A	ENSP00000347457:p.Gln723Lys					DNM3_ENST00000355305.5_Missense_Mutation_p.Q723K|DNM3_ENST00000367731.1_Missense_Mutation_p.Q713K	p.Q717K	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			19	2325	+			723			GED.		A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.2149C>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.150488	0.78001	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000355305;ENST00000367731;ENST00000485254	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.43	5.43	0.79202	GTPase effector domain, GED (1);Dynamin GTPase effector (2);	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.84585	2.705	0.80722	D	1	P;B;B	0.42123	0.771;0.033;0.033	P;B;B	0.45753	0.492;0.086;0.086	T	0.58463	-0.7632	10	0.32370	T	0.25	.	18.1579	0.89700	0.0:1.0:0.0:0.0	.	723;713;717	Q9UQ16;Q9UQ16-2;Q9UQ16-3	DYN3_HUMAN;.;.	K	727;717;723;713;86	ENSP00000350876:Q717K;ENSP00000347457:Q723K;ENSP00000356705:Q713K;ENSP00000429165:Q86K	ENSP00000347457:Q723K	Q	+	1	0	DNM3	170622986	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	6.013000	0.70776	2.717000	0.92951	0.585000	0.79938	CAG		0.507	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		22	119	1	0	1.9806e-07	1	2.20738e-07	22	119				
USH2A	7399	broad.mit.edu	37	1	216219844	216219844	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:216219844A>G	ENST00000307340.3	-	32	6640	c.6254T>C	c.(6253-6255)aTa>aCa	p.I2085T	USH2A_ENST00000366943.2_Missense_Mutation_p.I2085T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2085	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACTGAGTTATAATACCATT	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6253-6255)aTa>aCa		Usher syndrome 2A (autosomal recessive, mild)							120.0	100.0	107.0					1																	216219844		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216219844A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6254T>C	1.37:g.216219844A>G	ENSP00000305941:p.Ile2085Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.I2085T	p.I2085T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	32	6640	-			2085			Fibronectin type-III 7.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6254T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.004785	0.74932	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.61510	0.1;0.1	5.58	5.58	0.84498	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000189	T	0.80757	0.4684	M	0.93283	3.4	0.48288	D	0.999624	D	0.76494	0.999	D	0.64144	0.922	D	0.86111	0.1562	10	0.87932	D	0	.	15.2171	0.73277	1.0:0.0:0.0:0.0	.	2085	O75445	USH2A_HUMAN	T	2085	ENSP00000305941:I2085T;ENSP00000355910:I2085T	ENSP00000305941:I2085T	I	-	2	0	USH2A	214286467	1.000000	0.71417	0.275000	0.24674	0.988000	0.76386	6.825000	0.75293	2.250000	0.74265	0.533000	0.62120	ATA		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		59	32	0	0	0	1	0	59	32				
MRPS9	64965	broad.mit.edu	37	2	105654564	105654564	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:105654564G>A	ENST00000258455.3	+	1	124	c.14G>A	c.(13-15)tGt>tAt	p.C5Y	AC010884.1_ENST00000456519.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	5					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)|translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GCGGCGCCCTGTGTGTCCTAC	0.677																																						ENST00000258455.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(13-15)tGt>tAt		mitochondrial ribosomal protein S9							31.0	31.0	31.0					2																	105654564		2203	4300	6503	SO:0001583	missense	64965				DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr2:105654564G>A		CCDS2065.1	2q12.1	2012-09-13			ENSG00000135972	ENSG00000135972		"""Mitochondrial ribosomal proteins / small subunits"""	14501	protein-coding gene	gene with protein product	"""28S ribosomal protein S9, mitochondrial"""	611975				11279123	Standard	NM_182640		Approved	RPMS9, MRP-S9, S9mt	uc002tcn.4	P82933	OTTHUMG00000130807	ENST00000258455.3:c.14G>A	2.37:g.105654564G>A	ENSP00000258455:p.Cys5Tyr					AC010884.1_ENST00000456519.1_RNA	p.C5Y	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN			1	124	+			5					Q6PG40	Missense_Mutation	SNP	ENST00000258455.3	37	c.14G>A	CCDS2065.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434120	0.43224	.	.	ENSG00000135972	ENST00000258455	T	0.42513	0.97	4.82	3.91	0.45181	.	0.391954	0.28683	N	0.014495	T	0.35885	0.0947	M	0.62723	1.935	0.22737	N	0.998797	P	0.36616	0.561	B	0.28305	0.088	T	0.39623	-0.9605	10	0.72032	D	0.01	-10.8664	10.3022	0.43659	0.0:0.0:0.8034:0.1966	.	5	P82933	RT09_HUMAN	Y	5	ENSP00000258455:C5Y	ENSP00000258455:C5Y	C	+	2	0	MRPS9	105020996	0.625000	0.27111	0.048000	0.18961	0.182000	0.23217	1.174000	0.31932	1.311000	0.45024	0.655000	0.94253	TGT		0.677	MRPS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253352.1	NM_182640		7	20	0	0	0	1	0	7	20				
RNF150	57484	broad.mit.edu	37	4	141832311	141832311	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:141832311G>C	ENST00000515673.2	-	6	1218	c.1185C>G	c.(1183-1185)atC>atG	p.I395M	RNF150_ENST00000420921.2_Missense_Mutation_p.I254M|RNF150_ENST00000379512.2_Missense_Mutation_p.I254M|RNF150_ENST00000507500.1_Missense_Mutation_p.I395M|RNF150_ENST00000306799.3_Missense_Mutation_p.I353M			Q9ULK6	RN150_HUMAN	ring finger protein 150	395						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TAGTAGTAAAGATGACGTCTC	0.468																																						ENST00000306799.3																			0				breast(1)|large_intestine(10)|lung(7)|ovary(1)	19						c.(1057-1059)atC>atG		ring finger protein 150							75.0	80.0	78.0					4																	141832311		2203	4300	6503	SO:0001583	missense	57484					integral to membrane	zinc ion binding	g.chr4:141832311G>C	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.1185C>G	4.37:g.141832311G>C	ENSP00000425840:p.Ile395Met					RNF150_ENST00000420921.2_Missense_Mutation_p.I254M|RNF150_ENST00000507500.1_Missense_Mutation_p.I395M|RNF150_ENST00000379512.2_Missense_Mutation_p.I254M|RNF150_ENST00000515673.1_Missense_Mutation_p.I395M	p.I353M	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN			6	1712	-	all_hematologic(180;0.162)		395					Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	37	c.1059C>G	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529925	0.45073	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.14640	2.49;2.49;2.51;3.51;3.5;2.51	5.21	5.21	0.72293	.	0.386686	0.24975	N	0.034114	T	0.09905	0.0243	N	0.08118	0	0.38546	D	0.949343	P;B;B	0.36249	0.545;0.248;0.41	B;B;B	0.37508	0.149;0.252;0.044	T	0.36089	-0.9762	10	0.34782	T	0.22	.	18.7735	0.91901	0.0:0.0:1.0:0.0	.	353;395;395	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	M	254;254;353;395;395;226	ENSP00000368827:I254M;ENSP00000394581:I254M;ENSP00000304321:I353M;ENSP00000425840:I395M;ENSP00000425568:I395M;ENSP00000425947:I226M	ENSP00000304321:I353M	I	-	3	3	RNF150	142051761	1.000000	0.71417	0.967000	0.41034	0.953000	0.61014	5.324000	0.65863	2.426000	0.82243	0.655000	0.94253	ATC		0.468	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090		39	76	0	0	0	1	0	39	76				
DOT1L	84444	broad.mit.edu	37	19	2210791	2210791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:2210791C>T	ENST00000398665.3	+	14	1324	c.1288C>T	c.(1288-1290)Caa>Taa	p.Q430*	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	430					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.Q430*(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGAAGAACCAAACTGCACT	0.657																																						ENST00000398665.3																			1	Substitution - Nonsense(1)	p.Q430*(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1288-1290)Caa>Taa		DOT1-like histone H3K79 methyltransferase							44.0	56.0	52.0					19																	2210791		2028	4159	6187	SO:0001587	stop_gained	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210791C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1288C>T	19.37:g.2210791C>T	ENSP00000381657:p.Gln430*						p.Q430*	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1324	+		Hepatocellular(1079;0.137)	430					O60379|Q96JL1	Nonsense_Mutation	SNP	ENST00000398665.3	37	c.1288C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	37	6.594853	0.97692	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	.	.	.	4.84	4.84	0.62591	.	0.201094	0.45126	D	0.000384	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.6982	16.9353	0.86202	0.0:1.0:0.0:0.0	.	.	.	.	X	430	.	ENSP00000221482:Q430X	Q	+	1	0	DOT1L	2161791	1.000000	0.71417	0.061000	0.19648	0.984000	0.73092	7.076000	0.76806	2.222000	0.72286	0.561000	0.74099	CAA		0.657	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		32	84	0	0	0	1	0	32	84				
ANGEL2	90806	broad.mit.edu	37	1	213181682	213181682	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:213181682G>A	ENST00000366962.3	-	3	666	c.512C>T	c.(511-513)tCc>tTc	p.S171F	ANGEL2_ENST00000544555.1_Missense_Mutation_p.S2F|ANGEL2_ENST00000360506.2_Missense_Mutation_p.S2F|ANGEL2_ENST00000535388.1_Missense_Mutation_p.S2F|ANGEL2_ENST00000540642.1_Missense_Mutation_p.S45F	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	171										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TATATTATAGGACATCACTGA	0.363																																						ENST00000366962.3																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24						c.(511-513)tCc>tTc		angel homolog 2 (Drosophila)							141.0	137.0	138.0					1																	213181682		2202	4300	6502	SO:0001583	missense	90806							g.chr1:213181682G>A	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.512C>T	1.37:g.213181682G>A	ENSP00000355929:p.Ser171Phe					ANGEL2_ENST00000544555.1_Missense_Mutation_p.S2F|ANGEL2_ENST00000360506.2_Missense_Mutation_p.S2F|ANGEL2_ENST00000535388.1_Missense_Mutation_p.S2F|ANGEL2_ENST00000540642.1_Missense_Mutation_p.S45F	p.S171F	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	3	666	-			171					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Missense_Mutation	SNP	ENST00000366962.3	37	c.512C>T	CCDS1512.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073812	0.94000	.	.	ENSG00000174606	ENST00000366962;ENST00000360506;ENST00000544555;ENST00000540642;ENST00000535388;ENST00000310246	D;D;D;D;D	0.96967	-4.19;-1.71;-1.71;-4.19;-1.71	5.76	5.76	0.90799	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.98782	0.9590	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99312	1.0904	10	0.87932	D	0	-12.7804	19.9857	0.97347	0.0:0.0:1.0:0.0	.	45;149;171	F5H476;Q96AL9;Q5VTE6	.;.;ANGE2_HUMAN	F	171;2;2;45;2;149	ENSP00000355929:S171F;ENSP00000353696:S2F;ENSP00000443193:S2F;ENSP00000446124:S45F;ENSP00000438141:S2F	ENSP00000309755:S149F	S	-	2	0	ANGEL2	211248305	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.357000	0.97099	2.706000	0.92434	0.655000	0.94253	TCC		0.363	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		16	98	0	0	0	1	0	16	98				
SV2B	9899	broad.mit.edu	37	15	91835659	91835659	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:91835659C>A	ENST00000394232.1	+	13	2399	c.1929C>A	c.(1927-1929)acC>acA	p.T643T	SV2B_ENST00000545111.2_Silent_p.T492T|SV2B_ENST00000330276.4_Silent_p.T643T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	643					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGGAAACACCATCTTTGCTT	0.483																																						ENST00000394232.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1927-1929)acC>acA		synaptic vesicle glycoprotein 2B							158.0	145.0	149.0					15																	91835659		2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91835659C>A	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1929C>A	15.37:g.91835659C>A						SV2B_ENST00000545111.2_Silent_p.T492T|SV2B_ENST00000330276.4_Silent_p.T643T	p.T643T	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		13	2399	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		643					B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.1929C>A	CCDS10370.1																																																																																				0.483	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		22	57	1	0	3.8784e-16	1	5.01104e-16	22	57				
POTEF	728378	broad.mit.edu	37	2	130877898	130877898	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:130877898C>A	ENST00000409914.2	-	3	590	c.191G>T	c.(190-192)tGg>tTg	p.W64L	POTEF_ENST00000360967.5_Missense_Mutation_p.W64L|POTEF_ENST00000361163.4_Missense_Mutation_p.W64L|POTEF_ENST00000357462.5_Missense_Mutation_p.W64L	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	64					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTGGCGGCACCACTTGCCCAT	0.597																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(190-192)tGg>tTg		POTE ankyrin domain family, member F							77.0	109.0	98.0					2																	130877898		2169	4292	6461	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877898C>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.191G>T	2.37:g.130877898C>A	ENSP00000386786:p.Trp64Leu					POTEF_ENST00000409914.2_Missense_Mutation_p.W64L|POTEF_ENST00000360967.5_Missense_Mutation_p.W64L|POTEF_ENST00000361163.4_Missense_Mutation_p.W64L	p.W64L			A5A3E0	POTEF_HUMAN			1	284	-			64					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.191G>T	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	3.836	-0.034731	0.07543	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.76186	-1.0;-1.0;1.81;1.78	.	.	.	.	.	.	.	.	T	0.67126	0.2860	L	0.54323	1.7	0.09310	N	1	P	0.39094	0.659	B	0.39706	0.307	T	0.58797	-0.7573	7	0.72032	D	0.01	.	.	.	.	.	64	A5A3E0	POTEF_HUMAN	L	64	ENSP00000350052:W64L;ENSP00000386786:W64L;ENSP00000354232:W64L;ENSP00000355012:W64L	ENSP00000350052:W64L	W	-	2	0	POTEF	130594368	0.022000	0.18835	0.070000	0.20053	0.083000	0.17756	0.813000	0.27225	0.149000	0.19098	0.152000	0.16155	TGG		0.597	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		165	264	1	0	1.31598e-77	1	1.98895e-77	165	264				
CPNE5	57699	broad.mit.edu	37	6	36742828	36742828	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:36742828T>A	ENST00000244751.2	-	10	1271	c.647A>T	c.(646-648)cAc>cTc	p.H216L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	216	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CTCGGTCTTGTGGCAAATGGT	0.537																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(646-648)cAc>cTc		copine V							172.0	138.0	149.0					6																	36742828		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36742828T>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.647A>T	6.37:g.36742828T>A	ENSP00000244751:p.His216Leu						p.H216L	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			10	1271	-			216			C2 2.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.647A>T	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775367	0.70107	.	.	ENSG00000124772	ENST00000244751	T	0.38560	1.13	5.28	5.28	0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.52905	1.665	0.80722	D	1	P	0.49185	0.92	P	0.58130	0.833	T	0.50303	-0.8844	10	0.87932	D	0	.	13.1506	0.59488	0.0:0.0:0.0:1.0	.	216	Q9HCH3	CPNE5_HUMAN	L	216	ENSP00000244751:H216L	ENSP00000244751:H216L	H	-	2	0	CPNE5	36850806	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	7.583000	0.82559	1.993000	0.58246	0.368000	0.22195	CAC		0.537	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		10	29	0	0	0	1	0	10	29				
AQP9	366	broad.mit.edu	37	15	58430816	58430816	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:58430816T>A	ENST00000219919.4	+	1	422	c.52T>A	c.(52-54)Ttg>Atg	p.L18M	AQP9_ENST00000559443.1_3'UTR|AQP9_ENST00000536493.1_Missense_Mutation_p.L18M|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Intron	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	18					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GAGACTGGTCTTGAAGAGCAG	0.458																																						ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(52-54)Ttg>Atg		aquaporin 9							147.0	146.0	146.0					15																	58430816		2192	4292	6484	SO:0001583	missense	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58430816T>A	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.52T>A	15.37:g.58430816T>A	ENSP00000219919:p.Leu18Met					ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Missense_Mutation_p.L18M|AQP9_ENST00000559443.1_3'UTR|AQP9_ENST00000558772.1_Intron	p.L18M	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	1	422	+			18					Q9NP32	Missense_Mutation	SNP	ENST00000219919.4	37	c.52T>A	CCDS10165.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.922733	0.52653	.	.	ENSG00000103569	ENST00000219919;ENST00000536493	D;D	0.84442	-1.85;-1.85	5.85	3.54	0.40534	.	0.250905	0.28146	N	0.016436	T	0.81503	0.4836	L	0.33245	0.995	0.42263	D	0.992022	P	0.34462	0.454	P	0.46389	0.515	T	0.79647	-0.1716	10	0.87932	D	0	.	4.8757	0.13655	0.0:0.2856:0.0:0.7144	.	18	O43315	AQP9_HUMAN	M	18	ENSP00000219919:L18M;ENSP00000441390:L18M	ENSP00000219919:L18M	L	+	1	2	AQP9	56218108	0.997000	0.39634	0.960000	0.40013	0.867000	0.49689	0.920000	0.28705	1.058000	0.40530	0.454000	0.30748	TTG		0.458	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		23	38	0	0	0	1	0	23	38				
CPA5	93979	broad.mit.edu	37	7	130008366	130008366	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:130008366C>A	ENST00000485477.1	+	12	2368	c.1239C>A	c.(1237-1239)atC>atA	p.I413I	CPA5_ENST00000474905.1_Silent_p.I413I|CPA5_ENST00000431780.2_Nonsense_Mutation_p.S385*|CPA5_ENST00000466363.2_Silent_p.I413I|CPA5_ENST00000393213.3_Silent_p.I413I|CPA5_ENST00000461828.1_Silent_p.I413I|CPA5_ENST00000355388.3_Silent_p.I413I			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	413						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCACACAGATCATCCCCACGG	0.607																																						ENST00000431780.2																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23						c.(1153-1155)tCa>tAa		carboxypeptidase A5							141.0	116.0	124.0					7																	130008366		2203	4300	6503	SO:0001819	synonymous_variant	93979				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:130008366C>A	AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.1239C>A	7.37:g.130008366C>A						CPA5_ENST00000485477.1_Silent_p.I413I|CPA5_ENST00000466363.2_Silent_p.I413I|CPA5_ENST00000474905.1_Silent_p.I413I|CPA5_ENST00000355388.3_Silent_p.I413I|CPA5_ENST00000461828.1_Silent_p.I413I|CPA5_ENST00000393213.3_Silent_p.I413I	p.S385*	NM_001127442.1	NP_001120914.1	Q8WXQ8	CBPA5_HUMAN			11	1599	+	Melanoma(18;0.0435)		0					G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Nonsense_Mutation	SNP	ENST00000485477.1	37	c.1154C>A	CCDS5819.1	.	.	.	.	.	.	.	.	.	.	C	36	5.609085	0.96637	.	.	ENSG00000158525	ENST00000431780;ENST00000479492	.	.	.	5.85	2.03	0.26663	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0667	0.42308	0.0:0.6553:0.0:0.3447	.	.	.	.	X	385;62	.	.	S	+	2	0	CPA5	129795602	0.026000	0.19158	0.958000	0.39756	0.111000	0.19643	0.374000	0.20501	0.097000	0.17492	0.655000	0.94253	TCA		0.607	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		44	135	1	0	1.57945e-13	1	1.94435e-13	44	135				
ZNF257	113835	broad.mit.edu	37	19	22255703	22255703	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:22255703G>T	ENST00000594947.1	+	2	240	c.96G>T	c.(94-96)gtG>gtT	p.V32V	ZNF257_ENST00000600162.1_Silent_p.V32V	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	32	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATAGGGATGTGATGTTAGAGA	0.388																																						ENST00000594947.1																			0				haematopoietic_and_lymphoid_tissue(2)|lung(4)	6						c.(94-96)gtG>gtT		zinc finger protein 257							134.0	137.0	136.0					19																	22255703		2203	4297	6500	SO:0001819	synonymous_variant	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22255703G>T	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.96G>T	19.37:g.22255703G>T						ZNF257_ENST00000600162.1_Silent_p.V32V	p.V32V	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN			2	240	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	32			KRAB.		B3KPS4|E9PG34|Q8NE34	Silent	SNP	ENST00000594947.1	37	c.96G>T	CCDS46030.1																																																																																				0.388	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			72	126	1	0	6.09464e-36	1	9.02451e-36	72	126				
KRTAP10-5	386680	broad.mit.edu	37	21	46000028	46000028	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr21:46000028G>T	ENST00000400372.1	-	1	453	c.428C>A	c.(427-429)cCc>cAc	p.P143H	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	143	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AGAACAGGTGGGCACACAGCA	0.612																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(427-429)cCc>cAc		keratin associated protein 10-5							155.0	157.0	156.0					21																	46000028		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:46000028G>T	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.428C>A	21.37:g.46000028G>T	ENSP00000383223:p.Pro143His					TSPEAR_ENST00000323084.4_Intron	p.P143H	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	453	-			143			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.428C>A	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	g	6.445	0.450237	0.12223	.	.	ENSG00000241123	ENST00000400372	T	0.01745	4.66	3.18	3.18	0.36537	.	.	.	.	.	T	0.16642	0.0400	H	0.96576	3.845	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.09574	-1.0668	9	0.87932	D	0	.	12.1416	0.54000	0.0:0.0:1.0:0.0	.	143	P60370	KR105_HUMAN	H	143	ENSP00000383223:P143H	ENSP00000383223:P143H	P	-	2	0	KRTAP10-5	44824456	0.017000	0.18338	0.007000	0.13788	0.111000	0.19643	0.668000	0.25127	1.468000	0.48064	0.455000	0.32223	CCC		0.612	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			111	230	1	0	4.98428e-49	1	7.44075e-49	111	230				
ASTN2	23245	broad.mit.edu	37	9	119903718	119903718	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:119903718A>G	ENST00000313400.4	-	4	1155	c.1055T>C	c.(1054-1056)aTg>aCg	p.M352T	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.M352T|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	352					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAACTTCTGCATCAGGGACTC	0.592																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1054-1056)aTg>aCg		astrotactin 2							84.0	70.0	75.0					9																	119903718		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119903718A>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1055T>C	9.37:g.119903718A>G	ENSP00000314038:p.Met352Thr					ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Missense_Mutation_p.M352T|ASTN2_ENST00000361209.2_Intron	p.M352T			O75129	ASTN2_HUMAN			4	1155	-			352					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1055T>C		.	.	.	.	.	.	.	.	.	.	A	14.80	2.642432	0.47153	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986	T;T;T	0.13778	2.72;2.72;2.56	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	.	.	.	0.46044	D	0.998836	P;P	0.40431	0.717;0.532	P;B	0.49047	0.599;0.175	T	0.01062	-1.1464	8	.	.	.	-28.7045	13.388	0.60807	1.0:0.0:0.0:0.0	.	352;352	O75129;O75129-3	ASTN2_HUMAN;.	T	352;352;79	ENSP00000314038:M352T;ENSP00000363108:M352T;ENSP00000363098:M79T	.	M	-	2	0	ASTN2	118943539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.741000	0.74837	1.902000	0.55061	0.455000	0.32223	ATG		0.592	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		23	17	0	0	0	1	0	23	17				
PRKCA	5578	broad.mit.edu	37	17	64637527	64637527	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:64637527T>G	ENST00000413366.3	+	4	369	c.343T>G	c.(343-345)Tgc>Ggc	p.C115G	RNA5SP445_ENST00000515889.1_RNA	NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	115					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	CCCCACCTTCTGCGATCACTG	0.473																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(343-345)Tgc>Ggc		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						212.0	176.0	188.0					17																	64637527		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64637527T>G		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.343T>G	17.37:g.64637527T>G	ENSP00000408695:p.Cys115Gly						p.C115G	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		4	369	+			115					B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.343T>G	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651630	0.88056	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	D	0.99891	-7.56	6.04	6.04	0.98038	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.99941	0.9974	H	0.99838	4.83	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	D	0.95936	0.8942	10	0.87932	D	0	.	16.2497	0.82475	0.0:0.0:0.0:1.0	.	115	P17252	KPCA_HUMAN	G	115;22	ENSP00000408695:C115G	ENSP00000284384:C22G	C	+	1	0	PRKCA	62067989	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.586000	0.82596	2.317000	0.78254	0.459000	0.35465	TGC		0.473	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			90	113	0	0	0	1	0	90	113				
CPA4	51200	broad.mit.edu	37	7	129950685	129950685	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:129950685G>T	ENST00000222482.4	+	9	880	c.852G>T	c.(850-852)tcG>tcT	p.S284S	CPA4_ENST00000445470.2_Silent_p.S251S|CPA4_ENST00000493259.1_Silent_p.S180S	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	284					histone acetylation (GO:0016573)	extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ACGCCAATTCGGAAGTGGAGG	0.493																																						ENST00000222482.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(850-852)tcG>tcT		carboxypeptidase A4							109.0	103.0	105.0					7																	129950685		2203	4300	6503	SO:0001819	synonymous_variant	51200				histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129950685G>T	AF095719	CCDS5818.1, CCDS55163.1	7q32	2008-07-18			ENSG00000128510	ENSG00000128510			15740	protein-coding gene	gene with protein product	"""carboxypeptidase A3"""	607635				10383164, 10860668	Standard	NM_016352		Approved	CPA3	uc003vpr.3	Q9UI42	OTTHUMG00000157825	ENST00000222482.4:c.852G>T	7.37:g.129950685G>T						CPA4_ENST00000445470.2_Silent_p.S251S|CPA4_ENST00000493259.1_Silent_p.S180S	p.S284S	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN			9	880	+	Melanoma(18;0.0435)		284					B7Z576|Q86UY9	Silent	SNP	ENST00000222482.4	37	c.852G>T	CCDS5818.1																																																																																				0.493	CPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349725.1	NM_016352		31	100	1	0	7.68411e-24	1	1.0705e-23	31	100				
CPO	130749	broad.mit.edu	37	2	207833012	207833012	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:207833012A>G	ENST00000272852.3	+	8	849	c.803A>G	c.(802-804)aAt>aGt	p.N268S		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	268						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		AAGGCAGCAAATGCATTGAAA	0.363																																						ENST00000272852.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(802-804)aAt>aGt		carboxypeptidase O							111.0	106.0	108.0					2																	207833012		2203	4300	6503	SO:0001583	missense	130749				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr2:207833012A>G		CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.803A>G	2.37:g.207833012A>G	ENSP00000272852:p.Asn268Ser						p.N268S	NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)	8	849	+			268					Q2M277|Q7RTW7	Missense_Mutation	SNP	ENST00000272852.3	37	c.803A>G	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	A	5.454	0.268818	0.10349	.	.	ENSG00000144410	ENST00000272852	T	0.29397	1.57	4.84	3.7	0.42460	Peptidase M14, carboxypeptidase A (2);	0.611766	0.17118	N	0.186362	T	0.10252	0.0251	N	0.03071	-0.42	0.22342	N	0.999187	B	0.22909	0.077	B	0.14023	0.01	T	0.27640	-1.0068	10	0.14252	T	0.57	.	4.4235	0.11492	0.6946:0.2016:0.1038:0.0	.	268	Q8IVL8	CBPO_HUMAN	S	268	ENSP00000272852:N268S	ENSP00000272852:N268S	N	+	2	0	CPO	207541257	0.995000	0.38212	0.999000	0.59377	0.998000	0.95712	1.268000	0.33062	0.908000	0.36671	0.459000	0.35465	AAT		0.363	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077		16	33	0	0	0	1	0	16	33				
CMTM7	112616	broad.mit.edu	37	3	32483410	32483410	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:32483410G>C	ENST00000334983.5	+	2	474	c.238G>C	c.(238-240)Gtc>Ctc	p.V80L	CMTM7_ENST00000349718.4_Missense_Mutation_p.V80L	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	80	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(1)|lung(2)	4						CTTTGAAGTGGTCACCATTTG	0.532																																						ENST00000334983.5																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(238-240)Gtc>Ctc		CKLF-like MARVEL transmembrane domain containing 7							218.0	184.0	196.0					3																	32483410		2203	4300	6503	SO:0001583	missense	112616				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32483410G>C	AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"""chemokine-like factor super family 7"", ""chemokine-like factor superfamily 7"""	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.238G>C	3.37:g.32483410G>C	ENSP00000335605:p.Val80Leu					CMTM7_ENST00000349718.4_Missense_Mutation_p.V80L	p.V80L	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN			2	474	+			80			MARVEL.		Q5VLK1	Missense_Mutation	SNP	ENST00000334983.5	37	c.238G>C	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487495	0.84854	.	.	ENSG00000153551	ENST00000334983;ENST00000349718;ENST00000465248	T	0.30981	1.51	5.5	4.63	0.57726	Marvel (1);MARVEL-like domain (1);	0.198470	0.42172	D	0.000751	T	0.57213	0.2038	M	0.83012	2.62	0.40547	D	0.981089	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.976	T	0.63686	-0.6581	10	0.54805	T	0.06	.	13.0	0.58670	0.0791:0.0:0.9209:0.0	.	80;80	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	L	80;80;36	ENSP00000335605:V80L	ENSP00000335605:V80L	V	+	1	0	CMTM7	32458414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.953000	0.56699	1.336000	0.45506	0.591000	0.81541	GTC		0.532	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1			71	45	0	0	0	1	0	71	45				
SYNE1	23345	broad.mit.edu	37	6	152644659	152644659	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:152644659G>C	ENST00000367255.5	-	82	16472	c.15871C>G	c.(15871-15873)Cct>Gct	p.P5291A	SYNE1_ENST00000265368.4_Missense_Mutation_p.P5291A|SYNE1_ENST00000341594.5_Missense_Mutation_p.P4984A|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5220A|SYNE1_ENST00000448038.1_Missense_Mutation_p.P5220A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5291					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGAGCGGAGGCTCTTCCCCA	0.557										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(15871-15873)Cct>Gct		spectrin repeat containing, nuclear envelope 1							71.0	72.0	71.0					6																	152644659		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152644659G>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.15871C>G	6.37:g.152644659G>C	ENSP00000356224:p.Pro5291Ala	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.P5220A|SYNE1_ENST00000341594.5_Missense_Mutation_p.P4984A|SYNE1_ENST00000265368.4_Missense_Mutation_p.P5291A|SYNE1_ENST00000423061.1_Missense_Mutation_p.P5220A	p.P5291A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	82	16472	-		Ovarian(120;0.0955)	5291					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.15871C>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	0.453	-0.892894	0.02491	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.52983	0.73;0.73;0.64;0.73;1.36	5.35	2.58	0.30949	.	0.845153	0.10284	N	0.693174	T	0.12390	0.0301	L	0.51422	1.61	0.31349	N	0.682751	B;B;B;B	0.24132	0.098;0.007;0.007;0.012	B;B;B;B	0.23716	0.048;0.009;0.009;0.021	T	0.27806	-1.0063	10	0.02654	T	1	.	2.2308	0.03996	0.1421:0.2342:0.4029:0.2208	.	5291;5291;5291;5220	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	A	5291;5220;5291;5220;4984	ENSP00000356224:P5291A;ENSP00000396024:P5220A;ENSP00000265368:P5291A;ENSP00000390975:P5220A;ENSP00000341887:P4984A	ENSP00000265368:P5291A	P	-	1	0	SYNE1	152686352	0.917000	0.31117	0.240000	0.24138	0.003000	0.03518	1.519000	0.35888	0.237000	0.21200	-0.218000	0.12543	CCT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	74	0	0	0	1	0	24	74				
KRT13	3860	broad.mit.edu	37	17	39659680	39659680	+	Silent	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:39659680C>G	ENST00000246635.3	-	3	640	c.594G>C	c.(592-594)ctG>ctC	p.L198L	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Silent_p.L198L|KRT13_ENST00000587544.1_Silent_p.L198L	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	198	Coil 1B.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGCGCAGGGCCAGCTCATTCT	0.493																																						ENST00000246635.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(592-594)ctG>ctC		keratin 13							59.0	59.0	59.0					17																	39659680		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659680C>G		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.594G>C	17.37:g.39659680C>G						KRT13_ENST00000587544.1_Silent_p.L198L|KRT13_ENST00000336861.3_Silent_p.L198L	p.L198L	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN			3	640	-		Breast(137;0.000286)	198			Coil 1B.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.594G>C	CCDS11396.1																																																																																				0.493	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		36	56	0	0	0	1	0	36	56				
ENO2	2026	broad.mit.edu	37	12	7031310	7031310	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:7031310G>C	ENST00000535366.1	+	9	1785	c.1159G>C	c.(1159-1161)Ggg>Cgg	p.G387R	ENO2_ENST00000545045.2_Missense_Mutation_p.G268R|ATN1_ENST00000356654.4_5'Flank|ENO2_ENST00000541477.1_Missense_Mutation_p.G387R|ENO2_ENST00000534977.1_Intron|ENO2_ENST00000544774.1_Missense_Mutation_p.G344R|ENO2_ENST00000229277.1_Missense_Mutation_p.G387R|ENO2_ENST00000538763.1_Missense_Mutation_p.G344R			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	387					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perikaryon (GO:0043204)|phosphopyruvate hydratase complex (GO:0000015)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCTGGTGGTGGGGCTGTGCAC	0.572																																						ENST00000535366.1																			0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1159-1161)Ggg>Cgg		enolase 2 (gamma, neuronal)							85.0	81.0	83.0					12																	7031310		2203	4300	6503	SO:0001583	missense	2026				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	g.chr12:7031310G>C	M22349	CCDS8570.1	12p13	2012-10-02				ENSG00000111674	4.2.1.11		3353	protein-coding gene	gene with protein product		131360					Standard	NM_001975		Approved		uc001qru.1	P09104		ENST00000535366.1:c.1159G>C	12.37:g.7031310G>C	ENSP00000437402:p.Gly387Arg					ENO2_ENST00000544774.1_Missense_Mutation_p.G344R|ENO2_ENST00000545045.2_Missense_Mutation_p.G268R|ENO2_ENST00000538763.1_Missense_Mutation_p.G344R|ENO2_ENST00000229277.1_Missense_Mutation_p.G387R|ENO2_ENST00000534977.1_Intron|ENO2_ENST00000541477.1_Missense_Mutation_p.G387R	p.G387R			P09104	ENOG_HUMAN			9	1785	+			387					B7Z2X9|Q96J33	Missense_Mutation	SNP	ENST00000535366.1	37	c.1159G>C	CCDS8570.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880849	0.91740	.	.	ENSG00000111674	ENST00000541477;ENST00000229277;ENST00000538763;ENST00000544774;ENST00000535366;ENST00000545045	T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79	5.16	5.16	0.70880	Enolase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72708	0.3494	H	0.99642	4.675	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.77004	0.971;0.989	D	0.86363	0.1718	10	0.87932	D	0	-22.8059	19.0295	0.92950	0.0:0.0:1.0:0.0	.	344;387	B7Z2X9;P09104	.;ENOG_HUMAN	R	387;387;344;344;387;268	ENSP00000438873:G387R;ENSP00000229277:G387R;ENSP00000441490:G344R;ENSP00000446195:G344R;ENSP00000437402:G387R;ENSP00000438062:G268R	ENSP00000229277:G387R	G	+	1	0	ENO2	6901571	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.859000	0.99545	2.585000	0.87301	0.448000	0.29417	GGG		0.572	ENO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401786.1			19	77	0	0	0	1	0	19	77				
ACTA2	59	broad.mit.edu	37	10	90703570	90703570	+	Missense_Mutation	SNP	C	C	T	rs112602953		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:90703570C>T	ENST00000458208.1	-	4	827	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.R118Q	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	118			R -> Q (in AAT6). {ECO:0000269|PubMed:17994018, ECO:0000269|PubMed:19409525}.		glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CATTTTCTCCCGGTTGGCCTT	0.537																																						ENST00000458208.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17	GRCh37	CM075975	ACTA2	M	rs112602953	c.(352-354)cGg>cAg		actin, alpha 2, smooth muscle, aorta							117.0	105.0	109.0					10																	90703570		2203	4300	6503	SO:0001583	missense	59				response to virus	cytosol	ATP binding	g.chr10:90703570C>T	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.353G>A	10.37:g.90703570C>T	ENSP00000402373:p.Arg118Gln					STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.R118Q|ACTA2_ENST00000480297.1_5'UTR	p.R118Q	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	4	827	-		Colorectal(252;0.0161)	118		R -> Q (in AAT6).			B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	c.353G>A	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.229846	0.79688	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901;ENST00000415557;ENST00000458159	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	5.86	5.86	0.93980	Actin/actin-like conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98905	0.9629	H	0.97390	3.995	0.53688	D	0.999977	D;P	0.63046	0.992;0.937	P;D	0.71414	0.629;0.973	D	0.99360	1.0917	10	0.87932	D	0	.	18.7423	0.91779	0.0:1.0:0.0:0.0	.	118;118	B7Z6I1;P62736	.;ACTA_HUMAN	Q	118;118;73;118;118	ENSP00000224784:R118Q;ENSP00000402373:R118Q;ENSP00000396730:R118Q;ENSP00000398239:R118Q	ENSP00000224784:R118Q	R	-	2	0	ACTA2	90693550	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.818000	0.86416	2.773000	0.95371	0.655000	0.94253	CGG		0.537	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1	NM_001613		30	28	0	0	0	1	0	30	28				
CCDC140	151278	broad.mit.edu	37	2	223168728	223168728	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:223168728G>T	ENST00000295226.1	+	2	491	c.107G>T	c.(106-108)cGc>cTc	p.R36L		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	36								p.R36H(1)		endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAACACCCGCGTTCCTCGA	0.567																																						ENST00000295226.1																			1	Substitution - Missense(1)	p.R36H(1)	large_intestine(1)	endometrium(4)|large_intestine(1)|prostate(1)	6						c.(106-108)cGc>cTc		coiled-coil domain containing 140							49.0	52.0	51.0					2																	223168728		2203	4300	6503	SO:0001583	missense	151278							g.chr2:223168728G>T	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.107G>T	2.37:g.223168728G>T	ENSP00000295226:p.Arg36Leu						p.R36L	NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	491	+		Renal(207;0.0376)	36						Missense_Mutation	SNP	ENST00000295226.1	37	c.107G>T	CCDS2452.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345447	0.24426	.	.	ENSG00000163081	ENST00000295226	.	.	.	3.23	0.081	0.14423	.	.	.	.	.	T	0.19685	0.0473	N	0.08118	0	0.09310	N	1	D	0.53151	0.958	P	0.49799	0.622	T	0.13522	-1.0506	8	0.87932	D	0	.	5.6466	0.17592	0.4327:0.0:0.5673:0.0	.	36	Q96MF4	CC140_HUMAN	L	36	.	ENSP00000295226:R36L	R	+	2	0	CCDC140	222876972	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.178000	0.03093	0.001000	0.14605	-0.345000	0.07892	CGC		0.567	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1	NM_153038		19	19	1	0	3.57192e-18	1	4.74092e-18	19	19				
POU2F3	25833	broad.mit.edu	37	11	120180296	120180296	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:120180296G>T	ENST00000543440.2	+	10	1218		c.e10+1		POU2F3_ENST00000260264.4_Splice_Site	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3						epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTCCCGGCTGGTGAGTGGCCA	0.577																																						ENST00000260264.4																			0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.e10+1		POU class 2 homeobox 3							62.0	50.0	54.0					11																	120180296		2203	4299	6502	SO:0001630	splice_region_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120180296G>T	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.1068+1G>T	11.37:g.120180296G>T						POU2F3_ENST00000543440.2_Splice_Site		NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	10	1108	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)						A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Splice_Site	SNP	ENST00000543440.2	37		CCDS8431.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532521	0.64972	.	.	ENSG00000137709	ENST00000543440;ENST00000260264;ENST00000533620;ENST00000532638	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0423	0.89322	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POU2F3	119685506	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	8.820000	0.92003	2.321000	0.78463	0.573000	0.79308	.		0.577	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2		Intron	23	32	1	0	7.92952e-12	1	9.55206e-12	23	32				
PLPPR5	163404	broad.mit.edu	37	1	99418770	99418770	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:99418770A>G	ENST00000263177.4	-	3	698	c.477T>C	c.(475-477)taT>taC	p.Y159Y	LPPR5_ENST00000370188.3_Silent_p.Y159Y	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		159						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										CAAGTGCTGTATAATTGGGCT	0.448																																						ENST00000370188.3																			0											c.(475-477)taT>taC									105.0	99.0	101.0					1																	99418770		2203	4300	6503	SO:0001819	synonymous_variant	163404					integral to membrane	hydrolase activity	g.chr1:99418770A>G																												ENST00000263177.4:c.477T>C	1.37:g.99418770A>G						LPPR5_ENST00000263177.4_Silent_p.Y159Y	p.Y159Y	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			3	837	-			159					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Silent	SNP	ENST00000263177.4	37	c.477T>C	CCDS30778.1																																																																																				0.448	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			23	44	0	0	0	1	0	23	44				
LNPEP	4012	broad.mit.edu	37	5	96339245	96339245	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:96339245A>T	ENST00000231368.5	+	9	2472	c.1780A>T	c.(1780-1782)Aat>Tat	p.N594Y	LNPEP_ENST00000395770.3_Missense_Mutation_p.N580Y	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	594			N -> I (in dbSNP:rs12520455).		antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GGATAGTTTTAATGAGGTAAG	0.353																																						ENST00000231368.5																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34						c.(1780-1782)Aat>Tat		leucyl/cystinyl aminopeptidase							169.0	160.0	163.0					5																	96339245		2203	4300	6503	SO:0001583	missense	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96339245A>T	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.1780A>T	5.37:g.96339245A>T	ENSP00000231368:p.Asn594Tyr					LNPEP_ENST00000395770.3_Missense_Mutation_p.N580Y	p.N594Y	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	9	2472	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	594		N -> I (in dbSNP:rs12520455).			O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Missense_Mutation	SNP	ENST00000231368.5	37	c.1780A>T	CCDS4087.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972049	0.34754	.	.	ENSG00000113441	ENST00000231368;ENST00000395770	T;T	0.04758	3.56;3.56	5.76	2.07	0.26955	.	0.442809	0.28125	N	0.016514	T	0.04861	0.0131	L	0.43152	1.355	0.36051	D	0.840738	B	0.15930	0.015	B	0.22753	0.041	T	0.20140	-1.0284	10	0.72032	D	0.01	.	5.355	0.16055	0.7207:0.0:0.1468:0.1325	.	594	Q9UIQ6	LCAP_HUMAN	Y	594;580	ENSP00000231368:N594Y;ENSP00000379117:N580Y	ENSP00000231368:N594Y	N	+	1	0	LNPEP	96365001	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	3.201000	0.51059	0.521000	0.28445	-0.344000	0.07964	AAT		0.353	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		29	24	0	0	0	1	0	29	24				
LRIT1	26103	broad.mit.edu	37	10	85992184	85992184	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:85992184A>G	ENST00000372105.3	-	4	1392	c.1371T>C	c.(1369-1371)acT>acC	p.T457T		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	457	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CACTGAAGGCAGTTGTGTTCT	0.592																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(1369-1371)acT>acC		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							93.0	68.0	77.0					10																	85992184		2203	4300	6503	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:85992184A>G	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1371T>C	10.37:g.85992184A>G							p.T457T	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			4	1392	-			457			Fibronectin type-III.		Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.1371T>C	CCDS7373.1																																																																																				0.592	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		13	10	0	0	0	1	0	13	10				
ABCA8	10351	broad.mit.edu	37	17	66925212	66925212	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:66925212G>T	ENST00000269080.2	-	8	1240	c.1103C>A	c.(1102-1104)gCc>gAc	p.A368D	ABCA8_ENST00000586539.1_Missense_Mutation_p.A368D|ABCA8_ENST00000430352.2_Missense_Mutation_p.A368D	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	368					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAGCATGAAGGCAAAGGGACT	0.463																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1102-1104)gCc>gAc		ATP-binding cassette, sub-family A (ABC1), member 8							87.0	72.0	77.0					17																	66925212		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66925212G>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1103C>A	17.37:g.66925212G>T	ENSP00000269080:p.Ala368Asp					ABCA8_ENST00000430352.2_Missense_Mutation_p.A368D|ABCA8_ENST00000586539.1_Missense_Mutation_p.A368D	p.A368D	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			8	1240	-	Breast(10;4.56e-13)		368					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.1103C>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449372	0.84101	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.89050	-2.46;-2.46	4.67	4.67	0.58626	.	0.000000	0.51477	D	0.000098	D	0.95020	0.8388	M	0.86651	2.83	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.992;0.996;1.0	D	0.95675	0.8727	10	0.87932	D	0	.	16.6607	0.85240	0.0:0.0:1.0:0.0	.	307;368;368;368;368	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	D	368;368;307	ENSP00000269080:A368D;ENSP00000402814:A368D	ENSP00000269080:A368D	A	-	2	0	ABCA8	64436807	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.567000	0.73983	2.592000	0.87571	0.655000	0.94253	GCC		0.463	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		21	41	1	0	3.62473e-10	1	4.22018e-10	21	41				
UTRN	7402	broad.mit.edu	37	6	144837953	144837953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:144837953G>T	ENST00000367545.3	+	38	5410	c.5410G>T	c.(5410-5412)Gag>Tag	p.E1804*		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1804					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTAGATGGATGAGGAGAGTGC	0.328																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5410-5412)Gag>Tag		utrophin							50.0	50.0	50.0					6																	144837953		2201	4299	6500	SO:0001587	stop_gained	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144837953G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5410G>T	6.37:g.144837953G>T	ENSP00000356515:p.Glu1804*						p.E1804*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	38	5410	+		Ovarian(120;0.218)	1804					Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	ENST00000367545.3	37	c.5410G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	46	12.500839	0.99673	.	.	ENSG00000152818	ENST00000367545	.	.	.	5.86	5.86	0.93980	.	0.116572	0.38272	N	0.001751	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	16.991	0.86353	0.0:0.1353:0.8647:0.0	.	.	.	.	X	1804	.	ENSP00000356515:E1804X	E	+	1	0	UTRN	144879646	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	6.415000	0.73328	2.937000	0.99478	0.650000	0.86243	GAG		0.328	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			5	9	1	0	0.000602214	1	0.000632542	5	9				
ZNF620	253639	broad.mit.edu	37	3	40557746	40557746	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:40557746G>A	ENST00000314529.6	+	5	810	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	ZNF620_ENST00000418905.1_Missense_Mutation_p.E107K	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TCACACTGGTGAAAAGTCTTT	0.358																																						ENST00000314529.6																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(661-663)Gaa>Aaa		zinc finger protein 620							70.0	66.0	68.0					3																	40557746		2203	4300	6503	SO:0001583	missense	253639				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40557746G>A	AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.661G>A	3.37:g.40557746G>A	ENSP00000322265:p.Glu221Lys					ZNF620_ENST00000418905.1_Missense_Mutation_p.E107K	p.E221K	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	5	810	+			221					Q8N223	Missense_Mutation	SNP	ENST00000314529.6	37	c.661G>A	CCDS33740.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881394	0.51801	.	.	ENSG00000177842	ENST00000314529;ENST00000418905	T;T	0.24350	1.86;1.86	2.83	0.982	0.19762	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30324	0.0761	M	0.63208	1.945	0.25545	N	0.987144	P	0.51147	0.942	P	0.48873	0.593	T	0.12293	-1.0553	8	.	.	.	.	6.5425	0.22388	0.2581:0.0:0.7419:0.0	.	221	Q6ZNG0	ZN620_HUMAN	K	221;107	ENSP00000322265:E221K;ENSP00000391472:E107K	.	E	+	1	0	ZNF620	40532750	0.486000	0.25980	0.001000	0.08648	0.006000	0.05464	1.752000	0.38349	0.101000	0.17610	-0.218000	0.12543	GAA		0.358	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342824.1	XM_171060		48	23	0	0	0	1	0	48	23				
MAPT	4137	broad.mit.edu	37	17	44049301	44049301	+	Silent	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:44049301A>T	ENST00000571987.1	+	2	210	c.210A>T	c.(208-210)ccA>ccT	p.P70P	MAPT_ENST00000420682.2_Silent_p.P70P|MAPT_ENST00000340799.5_Silent_p.P70P|MAPT_ENST00000415613.2_Silent_p.P70P|MAPT_ENST00000262410.5_Silent_p.P70P|MAPT_ENST00000576518.1_5'Flank|MAPT_ENST00000347967.5_Missense_Mutation_p.Q6L|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Silent_p.P70P|MAPT_ENST00000431008.3_Silent_p.P70P|MAPT_ENST00000344290.5_Silent_p.P70P|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Silent_p.P70P|MAPT_ENST00000535772.1_Silent_p.P70P|MAPT_ENST00000446361.3_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	70					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	AGAGCACTCCAACAGCGGAAG	0.617																																						ENST00000347967.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(16-18)cAa>cTa		microtubule-associated protein tau							64.0	57.0	59.0					17																	44049301		2203	4300	6503	SO:0001819	synonymous_variant	4137				cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	g.chr17:44049301A>T	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.210A>T	17.37:g.44049301A>T						MAPT_ENST00000571987.1_Silent_p.P70P|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Silent_p.P70P|MAPT_ENST00000574436.1_Silent_p.P70P|MAPT_ENST00000262410.5_Silent_p.P70P|MAPT_ENST00000340799.5_Silent_p.P70P|MAPT_ENST00000535772.1_Silent_p.P70P|MAPT_ENST00000420682.2_Silent_p.P70P|MAPT_ENST00000431008.3_Silent_p.P70P|MAPT_ENST00000415613.2_Silent_p.P70P|MAPT_ENST00000344290.5_Silent_p.P70P|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000570299.1_Intron	p.Q6L			P10636	TAU_HUMAN			3	532	+		Melanoma(429;0.216)	35					P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	ENST00000571987.1	37	c.17A>T	CCDS11501.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.474684	0.26511	.	.	ENSG00000186868	ENST00000347967	T	0.17213	2.29	5.88	-5.44	0.02624	.	.	.	.	.	T	0.16854	0.0405	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.43491	-0.9388	6	0.87932	D	0	-10.5099	8.051	0.30577	0.6435:0.1312:0.2253:0.0	.	.	.	.	L	6	ENSP00000302706:Q6L	ENSP00000302706:Q6L	Q	+	2	0	MAPT	41405137	0.991000	0.36638	0.073000	0.20177	0.029000	0.11900	0.091000	0.15046	-0.647000	0.05444	-1.642000	0.00770	CAA		0.617	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	NM_016835		15	44	0	0	0	1	0	15	44				
CLTC	1213	broad.mit.edu	37	17	57756760	57756760	+	Silent	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:57756760T>G	ENST00000269122.3	+	18	3073	c.2799T>G	c.(2797-2799)gtT>gtG	p.V933V	CLTC_ENST00000393043.1_Silent_p.V933V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	933	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCTTTAGGTTTGCAATGAGA	0.363			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2797-2799)gtT>gtG		clathrin, heavy chain (Hc)							63.0	62.0	62.0					17																	57756760		2203	4300	6503	SO:0001819	synonymous_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57756760T>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2799T>G	17.37:g.57756760T>G						CLTC_ENST00000393043.1_Silent_p.V933V|CLTC_ENST00000579456.1_Intron	p.V933V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			18	3073	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		933			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.2799T>G	CCDS32696.1																																																																																				0.363	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		19	31	0	0	0	1	0	19	31				
C2orf76	130355	broad.mit.edu	37	2	120097421	120097421	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:120097421T>C	ENST00000409466.2	-	3	636	c.115A>G	c.(115-117)Atc>Gtc	p.I39V	C2orf76_ENST00000334816.7_Missense_Mutation_p.I39V|C2orf76_ENST00000409877.1_Missense_Mutation_p.I39V|C2orf76_ENST00000409523.1_Missense_Mutation_p.I39V|C2orf76_ENST00000498049.1_5'UTR			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	39										large_intestine(1)|lung(3)|pancreas(1)	5						AGAAATACGATAAATTCCTTT	0.338																																						ENST00000409466.2																			0				large_intestine(1)|lung(3)|pancreas(1)	5						c.(115-117)Atc>Gtc		chromosome 2 open reading frame 76							104.0	97.0	99.0					2																	120097421		1840	4109	5949	SO:0001583	missense	130355							g.chr2:120097421T>C		CCDS42739.1	2q14.2	2011-05-09			ENSG00000186132	ENSG00000186132			27017	protein-coding gene	gene with protein product						12477932	Standard	NM_001017927		Approved	MGC104437, LOC130355, AIM29	uc002tls.2	Q3KRA6	OTTHUMG00000153298	ENST00000409466.2:c.115A>G	2.37:g.120097421T>C	ENSP00000386302:p.Ile39Val					C2orf76_ENST00000334816.7_Missense_Mutation_p.I39V|C2orf76_ENST00000409523.1_Missense_Mutation_p.I39V|C2orf76_ENST00000498049.1_5'UTR|C2orf76_ENST00000409877.1_Missense_Mutation_p.I39V	p.I39V			Q3KRA6	CB076_HUMAN			3	636	-			39					B7ZLS8|Q4VC35	Missense_Mutation	SNP	ENST00000409466.2	37	c.115A>G	CCDS42739.1	.	.	.	.	.	.	.	.	.	.	T	8.792	0.930781	0.18131	.	.	ENSG00000186132	ENST00000409466;ENST00000334816;ENST00000409877;ENST00000409523;ENST00000414534	T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56	6.02	4.85	0.62838	.	0.133303	0.64402	D	0.000002	T	0.35740	0.0942	M	0.79805	2.47	0.47123	D	0.999322	B	0.18741	0.03	B	0.17433	0.018	T	0.12863	-1.0531	10	0.33940	T	0.23	-0.3073	10.7704	0.46319	0.1423:0.0:0.0:0.8577	.	39	Q3KRA6	CB076_HUMAN	V	39;39;39;39;68	ENSP00000386302:I39V;ENSP00000335041:I39V;ENSP00000387234:I39V;ENSP00000386714:I39V;ENSP00000388482:I68V	ENSP00000335041:I39V	I	-	1	0	C2orf76	119813891	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.985000	0.40668	1.069000	0.40788	0.533000	0.62120	ATC		0.338	C2orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330582.2	NM_001017927		20	42	0	0	0	1	0	20	42				
MYO15A	51168	broad.mit.edu	37	17	18023725	18023725	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:18023725G>T	ENST00000205890.5	+	2	1949	c.1611G>T	c.(1609-1611)ccG>ccT	p.P537P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	537					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCCTCACGCCGCGCCAGCGCA	0.721																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(1609-1611)ccG>ccT		myosin XVA							14.0	18.0	17.0					17																	18023725		1917	4084	6001	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18023725G>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1611G>T	17.37:g.18023725G>T							p.P537P	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			2	1949	+	all_neural(463;0.228)		537			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.1611G>T	CCDS42271.1																																																																																				0.721	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		22	21	1	0	1.64113e-05	1	1.76961e-05	22	21				
ITPR1	3708	broad.mit.edu	37	3	4774803	4774803	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:4774803G>A	ENST00000443694.2	+	40	5207	c.5207G>A	c.(5206-5208)cGt>cAt	p.R1736H	ITPR1_ENST00000354582.6_Missense_Mutation_p.R1736H|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1736H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1703H|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1688H|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1703H|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1751					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CTGGTCAACCGTTACTATGGA	0.507																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(5206-5208)cGt>cAt		inositol 1,4,5-trisphosphate receptor, type 1							70.0	69.0	70.0					3																	4774803		1961	4130	6091	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4774803G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5207G>A	3.37:g.4774803G>A	ENSP00000401671:p.Arg1736His					ITPR1_ENST00000302640.8_Missense_Mutation_p.R1736H|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1688H|ITPR1_ENST00000423119.2_Missense_Mutation_p.R1703H|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1703H|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1736H	p.R1736H			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	42	5557	+			1751					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.5207G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332938	0.81801	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	L	0.54965	1.715	0.80722	D	1	D;P	0.63046	0.992;0.534	P;B	0.45406	0.479;0.087	D	0.93216	0.6604	10	0.59425	D	0.04	.	19.8892	0.96923	0.0:0.0:1.0:0.0	.	1751;1703	Q14643;G5E9P1	ITPR1_HUMAN;.	H	1751;1736;1736;1703;197;1703;1688;1736	ENSP00000306253:R1736H;ENSP00000346595:R1736H;ENSP00000405934:R1703H;ENSP00000349597:R1703H;ENSP00000397885:R1688H;ENSP00000401671:R1736H	ENSP00000306253:R1736H	R	+	2	0	ITPR1	4749803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.092000	0.94157	2.777000	0.95525	0.591000	0.81541	CGT		0.507	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		19	11	0	0	0	1	0	19	11				
TAF1L	138474	broad.mit.edu	37	9	32632985	32632985	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:32632985G>T	ENST00000242310.4	-	1	2682	c.2593C>A	c.(2593-2595)Cta>Ata	p.L865I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	865					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGAGCTTTAGCCTCTTCCGG	0.463																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2593-2595)Cta>Ata		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							125.0	129.0	128.0					9																	32632985		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32632985G>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2593C>A	9.37:g.32632985G>T	ENSP00000418379:p.Leu865Ile						p.L865I	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2682	-			865					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2593C>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840196	0.51057	.	.	ENSG00000122728	ENST00000242310	T	0.24908	1.83	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	M	0.84846	2.72	0.52501	D	0.99995	D	0.89917	1.0	D	0.97110	1.0	T	0.50381	-0.8835	10	0.87932	D	0	.	7.8312	0.29344	0.0:0.0:1.0:0.0	.	865	Q8IZX4	TAF1L_HUMAN	I	865	ENSP00000418379:L865I	ENSP00000418379:L865I	L	-	1	2	TAF1L	32622985	1.000000	0.71417	0.999000	0.59377	0.812000	0.45895	2.543000	0.45752	0.632000	0.30432	0.195000	0.17529	CTA		0.463	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			60	120	1	0	2.73361e-28	1	3.87483e-28	60	120				
FAAH2	158584	broad.mit.edu	37	X	57337061	57337061	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:57337061A>T	ENST00000374900.4	+	3	431	c.311A>T	c.(310-312)gAt>gTt	p.D104V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	104						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CATGCTGTAGATCAAAAGCTT	0.408										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(310-312)gAt>gTt		fatty acid amide hydrolase 2							89.0	76.0	80.0					X																	57337061		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57337061A>T	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.311A>T	X.37:g.57337061A>T	ENSP00000364035:p.Asp104Val	HNSCC(52;0.14)					p.D104V	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			3	431	+			104					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.311A>T	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766677	0.31228	.	.	ENSG00000165591	ENST00000374900	T	0.71934	-0.61	2.34	2.34	0.29019	Amidase signature domain (2);	0.000000	0.85682	U	0.000000	D	0.86180	0.5871	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84935	0.0862	10	0.87932	D	0	.	6.3171	0.21196	1.0:0.0:0.0:0.0	.	104	Q6GMR7	FAAH2_HUMAN	V	104	ENSP00000364035:D104V	ENSP00000364035:D104V	D	+	2	0	FAAH2	57353786	0.988000	0.35896	0.802000	0.32245	0.432000	0.31715	2.507000	0.45442	0.736000	0.32559	0.339000	0.21740	GAT		0.408	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		18	10	0	0	0	1	0	18	10				
ERICH3	127254	broad.mit.edu	37	1	75114977	75114977	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:75114977G>T	ENST00000326665.5	-	2	264	c.46C>A	c.(46-48)Ctt>Att	p.L16I		NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		16										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTATCCATAAGGCTATTATAT	0.363																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(46-48)Ctt>Att		chromosome 1 open reading frame 173							95.0	95.0	95.0					1																	75114977		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75114977G>T																												ENST00000326665.5:c.46C>A	1.37:g.75114977G>T	ENSP00000322609:p.Leu16Ile						p.L16I	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			2	264	-			16					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.46C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560317	0.65538	.	.	ENSG00000178965	ENST00000326665	T	0.44482	0.92	5.57	5.57	0.84162	.	.	.	.	.	T	0.58736	0.2143	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61642	-0.7021	9	0.87932	D	0	-12.0121	18.3037	0.90172	0.0:0.0:1.0:0.0	.	16	Q5RHP9	CA173_HUMAN	I	16	ENSP00000322609:L16I	ENSP00000322609:L16I	L	-	1	0	C1orf173	74887565	1.000000	0.71417	0.997000	0.53966	0.464000	0.32679	6.639000	0.74314	2.622000	0.88805	0.591000	0.81541	CTT		0.363	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			14	49	1	0	6.31663e-08	1	7.10499e-08	14	49				
PDZD2	23037	broad.mit.edu	37	5	32088117	32088117	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:32088117C>A	ENST00000438447.1	+	20	4951	c.4563C>A	c.(4561-4563)agC>agA	p.S1521R	PDZD2_ENST00000282493.3_Missense_Mutation_p.S1521R			O15018	PDZD2_HUMAN	PDZ domain containing 2	1521					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTTTCTGAGCAACTACTCTA	0.488																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(4561-4563)agC>agA		PDZ domain containing 2							37.0	40.0	39.0					5																	32088117		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088117C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4563C>A	5.37:g.32088117C>A	ENSP00000402033:p.Ser1521Arg					PDZD2_ENST00000282493.3_Missense_Mutation_p.S1521R	p.S1521R			O15018	PDZD2_HUMAN			20	4951	+			1521					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4563C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.213912	0.58452	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.36878	1.23;1.23	5.67	4.61	0.57282	.	0.379952	0.25860	N	0.027825	T	0.47210	0.1433	M	0.61703	1.905	0.33341	D	0.569778	D	0.59767	0.986	P	0.56343	0.796	T	0.61544	-0.7041	10	0.72032	D	0.01	.	8.6401	0.33972	0.0:0.8245:0.0:0.1755	.	1521	O15018	PDZD2_HUMAN	R	1521;1322;1521	ENSP00000402033:S1521R;ENSP00000282493:S1521R	ENSP00000282493:S1521R	S	+	3	2	PDZD2	32123874	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.482000	0.35486	2.677000	0.91161	0.655000	0.94253	AGC		0.488	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			37	19	1	0	2.87052e-16	1	3.72861e-16	37	19				
IGKV3D-20	28874	broad.mit.edu	37	2	90078085	90078085	+	RNA	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:90078085T>A	ENST00000390270.2	+	0	219									immunoglobulin kappa variable 3D-20																		AGAGCCACCCTCTCCTGCGGG	0.537																																						ENST00000390270.2																			0																				78.0	80.0	79.0					2																	90078085		1891	4115	6006			28874							g.chr2:90078085T>A	X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078085T>A														0	219	+									RNA	SNP	ENST00000390270.2	37																																																																																						0.537	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833		6	230	0	0	0	1	0	6	230				
UBN2	254048	broad.mit.edu	37	7	138964104	138964104	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:138964104A>T	ENST00000473989.3	+	13	2065	c.2065A>T	c.(2065-2067)Aag>Tag	p.K689*	UBN2_ENST00000288561.8_Nonsense_Mutation_p.K606*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	689						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ACCCAAAGTAAAGGTAAGTAC	0.308																																						ENST00000288561.8																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(1816-1818)Aag>Tag		ubinuclein 2							65.0	63.0	63.0					7																	138964104		1820	4071	5891	SO:0001587	stop_gained	254048							g.chr7:138964104A>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.2065A>T	7.37:g.138964104A>T	ENSP00000418648:p.Lys689*					UBN2_ENST00000473989.2_Nonsense_Mutation_p.K689*	p.K606*	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN			13	2065	+			689					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Nonsense_Mutation	SNP	ENST00000473989.3	37	c.1816A>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	41	8.991273	0.99029	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7838	15.9192	0.79547	1.0:0.0:0.0:0.0	.	.	.	.	X	689;606	.	ENSP00000288561:K606X	K	+	1	0	UBN2	138614644	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	8.088000	0.89523	2.179000	0.69175	0.528000	0.53228	AAG		0.308	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569		7	35	0	0	0	1	0	7	35				
ZNF836	162962	broad.mit.edu	37	19	52660719	52660719	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:52660719C>A	ENST00000322146.8	-	5	738	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	ZNF836_ENST00000597252.1_Missense_Mutation_p.V73L|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	73	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCAGCGTCACTGTTTGGCAT	0.358																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(217-219)Gtg>Ttg		zinc finger protein 836							96.0	85.0	88.0					19																	52660719		1978	4182	6160	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52660719C>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.217G>T	19.37:g.52660719C>A	ENSP00000325038:p.Val73Leu					ZNF836_ENST00000597252.1_Missense_Mutation_p.V73L|CTC-471J1.8_ENST00000594362.1_RNA	p.V73L	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	738	-			73			KRAB.			Missense_Mutation	SNP	ENST00000322146.8	37	c.217G>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.396425	0.01175	.	.	ENSG00000196267	ENST00000322146	T	0.05786	3.39	1.32	-1.17	0.09648	Krueppel-associated box (1);	.	.	.	.	T	0.04318	0.0119	L	0.31926	0.97	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.44298	-0.9337	9	0.25751	T	0.34	.	4.2271	0.10585	0.0:0.5923:0.2371:0.1706	.	73	Q6ZNA1	ZN836_HUMAN	L	73	ENSP00000325038:V73L	ENSP00000325038:V73L	V	-	1	0	ZNF836	57352531	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-2.958000	0.00674	-0.271000	0.09272	-0.440000	0.05779	GTG		0.358	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		11	18	1	0	1.58986e-06	1	1.74789e-06	11	18				
NHS	4810	broad.mit.edu	37	X	17743958	17743958	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:17743958G>T	ENST00000380060.3	+	6	2007	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	NHS_ENST00000398097.3_Nonsense_Mutation_p.E401*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	578					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAAATTAAGTGAGAGGGGAAG	0.577																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1669-1671)Gag>Tag		Nance-Horan syndrome (congenital cataracts and dental anomalies)							70.0	58.0	62.0					X																	17743958		2203	4300	6503	SO:0001587	stop_gained	4810					nucleus		g.chrX:17743958G>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1669G>T	X.37:g.17743958G>T	ENSP00000369400:p.Glu557*					NHS_ENST00000398097.3_Nonsense_Mutation_p.E401*	p.E557*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	2007	+	Hepatocellular(33;0.183)		557					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Nonsense_Mutation	SNP	ENST00000380060.3	37	c.1669G>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	40	8.238539	0.98719	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.6807	19.1452	0.93463	0.0:0.0:1.0:0.0	.	.	.	.	X	557;401;399	.	ENSP00000369397:E399X	E	+	1	0	NHS	17653879	1.000000	0.71417	0.990000	0.47175	0.845000	0.48019	9.476000	0.97823	2.471000	0.83476	0.600000	0.82982	GAG		0.577	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		44	20	1	0	4.67007e-22	1	6.43235e-22	44	20				
TRAV8-7	28679	broad.mit.edu	37	14	22600966	22600966	+	RNA	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:22600966C>T	ENST00000390456.3	+	0	311									T cell receptor alpha variable 8-7 (non-functional)																		AGTGATGCTGCTGAGTACTTC	0.502																																						ENST00000390456.3																			0																				56.0	57.0	57.0					14																	22600966		2065	4211	6276			28679							g.chr14:22600966C>T	AE000660		14q11.2	2012-02-07	2008-09-11		ENSG00000211808	ENSG00000211808		"""T cell receptors / TRA locus"""	12152	other	T cell receptor gene			"""T cell receptor alpha variable 8-7"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000170655		14.37:g.22600966C>T														0	311	+									RNA	SNP	ENST00000390456.3	37																																																																																						0.502	TRAV8-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409903.1	NG_001332		24	22	0	0	0	1	0	24	22				
DOT1L	84444	broad.mit.edu	37	19	2216475	2216475	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:2216475A>G	ENST00000398665.3	+	20	2155	c.2119A>G	c.(2119-2121)Atg>Gtg	p.M707V	DOT1L_ENST00000608122.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	707					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGAGCAGCATGAGCCCGGA	0.672																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(2119-2121)Atg>Gtg		DOT1-like histone H3K79 methyltransferase							37.0	42.0	40.0					19																	2216475		2116	4233	6349	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2216475A>G	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2119A>G	19.37:g.2216475A>G	ENSP00000381657:p.Met707Val						p.M707V	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	2155	+		Hepatocellular(1079;0.137)	707					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2119A>G	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.586932	0.28268	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.20881	2.04	5.13	-1.63	0.08345	.	0.561030	0.20057	N	0.100165	T	0.12902	0.0313	L	0.43152	1.355	0.22378	N	0.999159	B;B	0.15473	0.013;0.005	B;B	0.09377	0.003;0.004	T	0.18493	-1.0335	10	0.87932	D	0	-4.6306	1.633	0.02736	0.2661:0.3878:0.1483:0.1978	.	707;707	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	V	707	ENSP00000381657:M707V	ENSP00000221482:M707V	M	+	1	0	DOT1L	2167475	0.901000	0.30685	0.875000	0.34327	0.772000	0.43724	0.070000	0.14573	-0.609000	0.05724	0.533000	0.62120	ATG		0.672	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		38	79	0	0	0	1	0	38	79				
VAV2	7410	broad.mit.edu	37	9	136726538	136726538	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:136726538G>C	ENST00000371850.3	-	3	369	c.338C>G	c.(337-339)tCg>tGg	p.S113W	VAV2_ENST00000371851.1_Missense_Mutation_p.S113W|VAV2_ENST00000406606.3_Missense_Mutation_p.S113W|VAV2_ENST00000486113.1_5'UTR	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	113	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGAGAGCCTCGACACCGCGGA	0.577																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(337-339)tCg>tGg		vav 2 guanine nucleotide exchange factor							74.0	69.0	71.0					9																	136726538		2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136726538G>C		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.338C>G	9.37:g.136726538G>C	ENSP00000360916:p.Ser113Trp					VAV2_ENST00000406606.3_Missense_Mutation_p.S113W|VAV2_ENST00000371850.3_Missense_Mutation_p.S113W|VAV2_ENST00000486113.1_5'UTR	p.S113W			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	3	663	-			113			CH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.338C>G	CCDS48053.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559095	0.45590	.	.	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;T	0.44083	0.93;0.93;0.93	5.06	5.06	0.68205	Calponin homology domain (5);	0.171164	0.38436	N	0.001683	T	0.70894	0.3276	M	0.91612	3.225	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.87578	0.94;0.998	T	0.77960	-0.2391	10	0.87932	D	0	.	14.2948	0.66304	0.0:0.0:1.0:0.0	.	113;113	P52735;P52735-3	VAV2_HUMAN;.	W	113	ENSP00000360916:S113W;ENSP00000360917:S113W;ENSP00000385362:S113W	ENSP00000317258:S113W	S	-	2	0	VAV2	135716359	1.000000	0.71417	0.953000	0.39169	0.114000	0.19823	5.681000	0.68175	2.508000	0.84585	0.655000	0.94253	TCG		0.577	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			4	12	0	0	0	1	0	4	12				
SLITRK1	114798	broad.mit.edu	37	13	84454456	84454456	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:84454456A>T	ENST00000377084.2	-	1	2072	c.1187T>A	c.(1186-1188)gTg>gAg	p.V396E		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	396					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTGTAATCCACAAAGTGCGA	0.453																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1186-1188)gTg>gAg		SLIT and NTRK-like family, member 1							194.0	190.0	191.0					13																	84454456		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454456A>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1187T>A	13.37:g.84454456A>T	ENSP00000366288:p.Val396Glu						p.V396E	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2072	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	396					Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.1187T>A	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.365017	0.24684	.	.	ENSG00000178235	ENST00000377084	T	0.51071	0.72	5.23	5.23	0.72850	.	0.222938	0.39020	N	0.001490	T	0.29882	0.0747	N	0.20401	0.57	0.44323	D	0.997206	B	0.11235	0.004	B	0.16722	0.016	T	0.12604	-1.0541	10	0.02654	T	1	-6.0205	13.9445	0.64075	1.0:0.0:0.0:0.0	.	396	Q96PX8	SLIK1_HUMAN	E	396	ENSP00000366288:V396E	ENSP00000366288:V396E	V	-	2	0	SLITRK1	83352457	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.951000	0.56684	1.985000	0.57927	0.459000	0.35465	GTG		0.453	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		82	199	0	0	0	1	0	82	199				
CABP4	57010	broad.mit.edu	37	11	67223911	67223911	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:67223911G>C	ENST00000325656.5	+	3	616	c.539G>C	c.(538-540)cGc>cCc	p.R180P	CABP4_ENST00000438189.2_Missense_Mutation_p.R75P	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	180	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ATCAAGATGCGCAGTCAGTCA	0.672																																						ENST00000438189.2																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(223-225)cGc>cCc		calcium binding protein 4							31.0	30.0	30.0					11																	67223911		2199	4295	6494	SO:0001583	missense	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67223911G>C	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.539G>C	11.37:g.67223911G>C	ENSP00000324960:p.Arg180Pro					CABP4_ENST00000325656.5_Missense_Mutation_p.R180P	p.R75P			P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		4	568	+			180					Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	c.224G>C	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204240	0.58234	.	.	ENSG00000175544	ENST00000438189;ENST00000325656	T;T	0.29142	1.58;1.58	4.07	4.07	0.47477	EF-hand-like domain (1);	0.132588	0.49305	D	0.000141	T	0.41143	0.1146	L	0.38531	1.155	0.42809	D	0.99395	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.962	T	0.26883	-1.0090	10	0.62326	D	0.03	-16.1957	9.3722	0.38261	0.102:0.0:0.898:0.0	.	180;75	P57796;P57796-2	CABP4_HUMAN;.	P	75;180	ENSP00000401555:R75P;ENSP00000324960:R180P	ENSP00000324960:R180P	R	+	2	0	CABP4	66980487	0.998000	0.40836	0.997000	0.53966	0.735000	0.41995	3.254000	0.51477	2.273000	0.75805	0.561000	0.74099	CGC		0.672	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			20	38	0	0	0	1	0	20	38				
RYR2	6262	broad.mit.edu	37	1	237789017	237789017	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:237789017G>T	ENST00000366574.2	+	40	6396	c.6079G>T	c.(6079-6081)Ggg>Tgg	p.G2027W	RYR2_ENST00000360064.6_Missense_Mutation_p.G2025W|RYR2_ENST00000542537.1_Missense_Mutation_p.G2011W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2027	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACAATTAGAGGGCGTCTGCT	0.383																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6079-6081)Ggg>Tgg		ryanodine receptor 2 (cardiac)							121.0	114.0	116.0					1																	237789017		1847	4094	5941	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237789017G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6079G>T	1.37:g.237789017G>T	ENSP00000355533:p.Gly2027Trp					RYR2_ENST00000542537.1_Missense_Mutation_p.G2011W|RYR2_ENST00000360064.6_Missense_Mutation_p.G2025W	p.G2027W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		40	6396	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2027			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6079G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969485	0.74246	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.72725	-0.68;-0.68;-0.68	5.61	5.61	0.85477	.	0.000000	0.64402	U	0.000018	D	0.84243	0.5429	M	0.77103	2.36	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	D	0.85891	0.1428	10	0.87932	D	0	.	17.802	0.88590	0.0:0.0:1.0:0.0	.	2027	Q92736	RYR2_HUMAN	W	2027;2025;2011	ENSP00000355533:G2027W;ENSP00000353174:G2025W;ENSP00000443798:G2011W	ENSP00000353174:G2025W	G	+	1	0	RYR2	235855640	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.417000	0.90247	2.644000	0.89710	0.655000	0.94253	GGG		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	84	1	0	0.00136819	1	0.0014248	13	84				
SLC6A19	340024	broad.mit.edu	37	5	1210639	1210639	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:1210639A>T	ENST00000304460.10	+	3	480	c.424A>T	c.(424-426)Aac>Tac	p.N142Y		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	142					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)			GTACTTATTCAACTCCTTCCA	0.577																																						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.(424-426)Aac>Tac		solute carrier family 6 (neutral amino acid transporter), member 19							103.0	88.0	93.0					5																	1210639		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1210639A>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.424A>T	5.37:g.1210639A>T	ENSP00000305302:p.Asn142Tyr						p.N142Y	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)		3	480	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		142					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.424A>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	a	21.7	4.188571	0.78789	.	.	ENSG00000174358	ENST00000304460	T	0.74842	-0.88	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	M	0.66378	2.025	0.58432	D	0.99999	D	0.60575	0.988	D	0.69479	0.964	D	0.85526	0.1206	10	0.87932	D	0	.	13.4453	0.61138	1.0:0.0:0.0:0.0	.	142	Q695T7	S6A19_HUMAN	Y	142	ENSP00000305302:N142Y	ENSP00000305302:N142Y	N	+	1	0	SLC6A19	1263639	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.067000	0.76741	1.642000	0.50584	0.387000	0.25754	AAC		0.577	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		14	67	0	0	0	1	0	14	67				
PCDHB17	54661	broad.mit.edu	37	5	140536803	140536803	+	Silent	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:140536803G>C	ENST00000539533.1	+	1	1227	c.1227G>C	c.(1225-1227)gcG>gcC	p.A409A						protocadherin beta 17 pseudogene																		CAGAAGGAGCGCTAGACAGAG	0.468																																						ENST00000539533.1																			0											c.(1225-1227)gcG>gcC																																						SO:0001819	synonymous_variant	54661							g.chr5:140536803G>C	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1227G>C	5.37:g.140536803G>C							p.A409A							1	1227	+									Silent	SNP	ENST00000539533.1	37	c.1227G>C																																																																																					0.468	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				41	17	0	0	0	1	0	41	17				
DSCAML1	57453	broad.mit.edu	37	11	117389278	117389278	+	Missense_Mutation	SNP	G	G	T	rs146015983		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:117389278G>T	ENST00000321322.6	-	7	1594	c.1593C>A	c.(1591-1593)aaC>aaA	p.N531K	DSCAML1_ENST00000527706.1_Missense_Mutation_p.N261K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	471	Ig-like C2-type 6.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGCCTGTGACGTTCATGTGGC	0.632																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1591-1593)aaC>aaA		Down syndrome cell adhesion molecule like 1							99.0	93.0	95.0					11																	117389278		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117389278G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1593C>A	11.37:g.117389278G>T	ENSP00000315465:p.Asn531Lys					DSCAML1_ENST00000527706.1_Missense_Mutation_p.N261K	p.N531K	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	7	1594	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	471			Ig-like C2-type 6.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1593C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646252	0.67358	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.65916	-0.18;-0.18	4.3	1.1	0.20463	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69922	0.3165	L	0.55103	1.725	0.58432	D	0.999997	D;D	0.67145	0.995;0.996	D;D	0.74023	0.97;0.982	T	0.68191	-0.5474	9	0.62326	D	0.03	.	8.5735	0.33583	0.3573:0.0:0.6427:0.0	.	261;471	G3V1B5;Q8TD84	.;DSCL1_HUMAN	K	261;531;238	ENSP00000434335:N261K;ENSP00000315465:N531K	ENSP00000315465:N531K	N	-	3	2	DSCAML1	116894488	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.762000	0.38451	0.437000	0.26423	0.555000	0.69702	AAC		0.632	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		30	66	1	0	4.15321e-07	1	4.62171e-07	30	66				
ANO2	57101	broad.mit.edu	37	12	6031869	6031869	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:6031869C>A	ENST00000356134.5	-	2	183	c.112G>T	c.(112-114)Ggt>Tgt	p.G38C	ANO2_ENST00000546188.1_Missense_Mutation_p.G38C|ANO2_ENST00000327087.8_Missense_Mutation_p.G38C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	42					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCCCGGGGACCTGGCATCTTG	0.682																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(112-114)Ggt>Tgt		anoctamin 2							20.0	24.0	23.0					12																	6031869		1894	4112	6006	SO:0001583	missense	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:6031869C>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.112G>T	12.37:g.6031869C>A	ENSP00000348453:p.Gly38Cys					ANO2_ENST00000356134.5_Missense_Mutation_p.G38C|ANO2_ENST00000546188.1_Missense_Mutation_p.G38C	p.G38C			Q9NQ90	ANO2_HUMAN			2	183	-			42					C4N787|Q9H847	Missense_Mutation	SNP	ENST00000356134.5	37	c.112G>T		.	.	.	.	.	.	.	.	.	.	C	11.86	1.765791	0.31228	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.66815	-0.23;-0.23;-0.23	4.36	1.39	0.22231	.	0.473863	0.15718	N	0.248039	T	0.55433	0.1920	L	0.36672	1.1	0.09310	N	1	P	0.48407	0.91	P	0.46758	0.526	T	0.48080	-0.9066	10	0.56958	D	0.05	.	4.0149	0.09639	0.0:0.5836:0.1973:0.2191	.	38	Q9NQ90-3	.	C	38;38;38;42	ENSP00000314048:G38C;ENSP00000348453:G38C;ENSP00000440981:G38C	ENSP00000314048:G38C	G	-	1	0	ANO2	5902130	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.957000	0.03861	1.057000	0.40506	-0.254000	0.11334	GGT		0.682	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		3	10	1	0	0.00909568	1	0.00923484	3	10				
TGIF1	7050	broad.mit.edu	37	18	3456507	3456507	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:3456507C>G	ENST00000330513.5	+	2	862	c.559C>G	c.(559-561)Cgt>Ggt	p.R187G	TGIF1_ENST00000407501.2_Missense_Mutation_p.R58G|TGIF1_ENST00000551541.1_Missense_Mutation_p.R38G|TGIF1_ENST00000400167.2_Missense_Mutation_p.R38G|TGIF1_ENST00000401449.1_Missense_Mutation_p.R38G|TGIF1_ENST00000577543.1_Missense_Mutation_p.R58G|TGIF1_ENST00000405385.3_Missense_Mutation_p.R38G|TGIF1_ENST00000472042.1_Missense_Mutation_p.R38G|TGIF1_ENST00000548489.2_Missense_Mutation_p.R72G|TGIF1_ENST00000551402.1_Missense_Mutation_p.R58G|TGIF1_ENST00000343820.5_Missense_Mutation_p.R58G|TGIF1_ENST00000345133.5_Missense_Mutation_p.R38G	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	187					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GTATGAGCACCGTTACAATGC	0.502																																						ENST00000472042.1																			0				cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(112-114)Cgt>Ggt		TGFB-induced factor homeobox 1							177.0	153.0	161.0					18																	3456507		2203	4300	6503	SO:0001583	missense	7050				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr18:3456507C>G	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.559C>G	18.37:g.3456507C>G	ENSP00000327959:p.Arg187Gly					TGIF1_ENST00000407501.2_Missense_Mutation_p.R58G|TGIF1_ENST00000345133.5_Missense_Mutation_p.R38G|TGIF1_ENST00000343820.5_Missense_Mutation_p.R58G|TGIF1_ENST00000577543.1_Missense_Mutation_p.R58G|TGIF1_ENST00000551541.1_Missense_Mutation_p.R38G|TGIF1_ENST00000551402.1_Missense_Mutation_p.R58G|TGIF1_ENST00000330513.5_Missense_Mutation_p.R187G|TGIF1_ENST00000548489.2_Missense_Mutation_p.R72G|TGIF1_ENST00000400167.2_Missense_Mutation_p.R38G|TGIF1_ENST00000405385.3_Missense_Mutation_p.R38G|TGIF1_ENST00000401449.1_Missense_Mutation_p.R38G	p.R38G			Q15583	TGIF1_HUMAN			1	1096	+	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)	187					A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	c.112C>G	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079420	0.55753	.	.	ENSG00000177426	ENST00000552383;ENST00000401449;ENST00000550958;ENST00000548489;ENST00000549780;ENST00000549253;ENST00000405385;ENST00000343820;ENST00000407501;ENST00000546979;ENST00000551402;ENST00000551541;ENST00000345133;ENST00000330513;ENST00000549546;ENST00000549468;ENST00000400167;ENST00000551333;ENST00000472042	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91577	-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87;-2.87	5.97	2.93	0.34026	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95063	0.8401	M	0.83483	2.645	0.80722	D	1	D;P;P;D	0.89917	1.0;0.953;0.934;0.962	D;P;P;P	0.91635	0.999;0.856;0.876;0.876	D	0.95028	0.8166	10	0.59425	D	0.04	-11.2537	14.4686	0.67501	0.395:0.605:0.0:0.0	.	58;187;58;72	F8W1J9;Q15583;Q15583-2;F8VZB6	.;TGIF1_HUMAN;.;.	G	38;38;38;72;38;61;38;58;58;58;58;38;38;187;38;38;38;38;38	ENSP00000449287:R38G;ENSP00000385206:R38G;ENSP00000449531:R38G;ENSP00000447747:R72G;ENSP00000448121:R38G;ENSP00000384970:R38G;ENSP00000339631:R58G;ENSP00000384133:R58G;ENSP00000448934:R58G;ENSP00000446944:R58G;ENSP00000450025:R38G;ENSP00000343969:R38G;ENSP00000327959:R187G;ENSP00000449580:R38G;ENSP00000449722:R38G;ENSP00000383031:R38G;ENSP00000446838:R38G;ENSP00000449501:R38G	ENSP00000327959:R187G	R	+	1	0	TGIF1	3446507	1.000000	0.71417	0.998000	0.56505	0.878000	0.50629	2.334000	0.43920	0.768000	0.33290	0.655000	0.94253	CGT		0.502	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695		93	1519	0	0	0	1	0	93	1519				
NIPBL	25836	broad.mit.edu	37	5	37006527	37006527	+	Silent	SNP	G	G	A	rs367925827		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:37006527G>A	ENST00000282516.8	+	17	4423	c.3924G>A	c.(3922-3924)gcG>gcA	p.A1308A	NIPBL_ENST00000448238.2_Silent_p.A1308A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1308					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)	p.A1308A(2)		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)			CAAAATCAGCGGATGCTTGTC	0.338																																						ENST00000282516.8																			2	Substitution - coding silent(2)	p.A1308A(2)	kidney(2)	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.(3922-3924)gcG>gcA		Nipped-B homolog (Drosophila)		G	,	0,4406		0,0,2203	120.0	112.0	115.0		3924,3924	-0.1	1.0	5		115	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	NIPBL	NM_015384.4,NM_133433.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	1308/2698,1308/2805	37006527	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	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.chr5:37006527G>A	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.3924G>A	5.37:g.37006527G>A						NIPBL_ENST00000448238.2_Silent_p.A1308A	p.A1308A	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)		17	4423	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1308					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.3924G>A	CCDS3920.1																																																																																				0.338	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		76	41	0	0	0	1	0	76	41				
KIAA1161	57462	broad.mit.edu	37	9	34371054	34371054	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:34371054C>G	ENST00000297625.7	-	2	2011	c.1786G>C	c.(1786-1788)Ggt>Cgt	p.G596R		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	630					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATAGGGTCACCCGTGTCGGTG	0.662																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(1786-1788)Ggt>Cgt		KIAA1161							19.0	24.0	23.0					9																	34371054		1984	4145	6129	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34371054C>G	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.1786G>C	9.37:g.34371054C>G	ENSP00000297625:p.Gly596Arg						p.G596R	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	2011	-			630					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.1786G>C		.	.	.	.	.	.	.	.	.	.	C	17.71	3.456032	0.63401	.	.	ENSG00000164976	ENST00000297625	D	0.95001	-3.58	5.57	5.57	0.84162	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97632	0.9224	M	0.90309	3.105	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	D	0.98281	1.0508	10	0.87932	D	0	-32.0744	18.5413	0.91029	0.0:1.0:0.0:0.0	.	630	Q6NSJ0	K1161_HUMAN	R	596	ENSP00000297625:G596R	ENSP00000297625:G596R	G	-	1	0	KIAA1161	34361054	1.000000	0.71417	0.153000	0.22517	0.701000	0.40568	7.818000	0.86416	2.642000	0.89623	0.462000	0.41574	GGT		0.662	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		18	32	0	0	0	1	0	18	32				
MARCH6	10299	broad.mit.edu	37	5	10423871	10423871	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:10423871G>T	ENST00000274140.5	+	23	2440	c.2308G>T	c.(2308-2310)Gcc>Tcc	p.A770S	MARCH6_ENST00000503788.1_Missense_Mutation_p.A665S|MARCH6_ENST00000510792.1_Missense_Mutation_p.A468S|MARCH6_ENST00000449913.2_Missense_Mutation_p.A722S	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	770					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGTCCTGCATGCCAAAATCAT	0.368																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(2308-2310)Gcc>Tcc		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							93.0	87.0	89.0					5																	10423871		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10423871G>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2308G>T	5.37:g.10423871G>T	ENSP00000274140:p.Ala770Ser					MARCH6_ENST00000503788.1_Missense_Mutation_p.A665S|MARCH6_ENST00000449913.2_Missense_Mutation_p.A722S|MARCH6_ENST00000510792.1_Missense_Mutation_p.A468S	p.A770S	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			23	2440	+			770					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2308G>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.704063	0.68615	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	T;T;T;T	0.44881	1.92;0.91;1.92;0.92	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.20052	0.029;0.008;0.041;0.003	B;B;B;B	0.14578	0.009;0.003;0.011;0.002	T	0.10042	-1.0647	10	0.30854	T	0.27	-12.4777	19.9966	0.97387	0.0:0.0:1.0:0.0	.	665;722;350;770	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	S	722;665;770;468	ENSP00000414643:A722S;ENSP00000425930:A665S;ENSP00000274140:A770S;ENSP00000424512:A468S	ENSP00000274140:A770S	A	+	1	0	MARCH6	10476871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.542000	0.82095	2.798000	0.96311	0.655000	0.94253	GCC		0.368	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		14	83	1	0	2.23348e-06	1	2.44811e-06	14	83				
SPN	6693	broad.mit.edu	37	16	29675878	29675878	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:29675878T>C	ENST00000360121.3	+	2	921	c.829T>C	c.(829-831)Tgg>Cgg	p.W277R	SPN_ENST00000395389.2_Missense_Mutation_p.W277R	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GCTCCTGCTGTGGCGCCGGCG	0.692																																						ENST00000360121.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						c.(829-831)Tgg>Cgg		sialophorin							32.0	27.0	28.0					16																	29675878		2196	4299	6495	SO:0001583	missense	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675878T>C	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.829T>C	16.37:g.29675878T>C	ENSP00000353238:p.Trp277Arg					SPN_ENST00000395389.2_Missense_Mutation_p.W277R|AC009133.19_ENST00000449759.1_Intron	p.W277R	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN			2	921	+			277					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.829T>C	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.128147	0.77549	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.39406	1.13;1.08;1.13	5.21	5.21	0.72293	.	0.326094	0.22696	N	0.056747	T	0.61060	0.2317	M	0.65498	2.005	0.36405	D	0.863373	D	0.89917	1.0	D	0.79108	0.992	T	0.70699	-0.4800	10	0.87932	D	0	-10.217	11.7674	0.51939	0.0:0.0:0.0:1.0	.	277	P16150	LEUK_HUMAN	R	277	ENSP00000378787:W277R;ENSP00000412907:W277R;ENSP00000353238:W277R	ENSP00000353238:W277R	W	+	1	0	SPN	29583379	0.999000	0.42202	0.901000	0.35422	0.689000	0.40095	3.395000	0.52558	2.097000	0.63578	0.383000	0.25322	TGG		0.692	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			10	26	0	0	0	1	0	10	26				
FGF13	2258	broad.mit.edu	37	X	137717804	137717804	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:137717804G>T	ENST00000315930.6	-	4	1076	c.415C>A	c.(415-417)Cct>Act	p.P139T	FGF13_ENST00000370603.3_Missense_Mutation_p.P149T|FGF13_ENST00000441825.2_Missense_Mutation_p.P120T|FGF13_ENST00000305414.4_Missense_Mutation_p.P86T|FGF13_ENST00000541469.1_Missense_Mutation_p.P93T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	139	Mediates interaction with sodium channels.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGCACTCAGGTGTGAAAAGT	0.363																																						ENST00000315930.6																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24						c.(415-417)Cct>Act		fibroblast growth factor 13							55.0	48.0	51.0					X																	137717804		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137717804G>T	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.415C>A	X.37:g.137717804G>T	ENSP00000322390:p.Pro139Thr					FGF13_ENST00000541469.1_Missense_Mutation_p.P93T|FGF13_ENST00000441825.2_Missense_Mutation_p.P120T|FGF13_ENST00000305414.4_Missense_Mutation_p.P86T|FGF13_ENST00000370603.3_Missense_Mutation_p.P149T	p.P139T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN			4	1076	-	Acute lymphoblastic leukemia(192;0.000127)		139					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.415C>A	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370495	0.61624	.	.	ENSG00000129682	ENST00000315930;ENST00000305414;ENST00000441825;ENST00000370603;ENST00000541469;ENST00000436198;ENST00000455663	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	6.17	6.17	0.99709	.	0.046217	0.85682	D	0.000000	T	0.76751	0.4031	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.31413	0.143;0.322;0.044;0.074	B;B;B;B	0.30401	0.111;0.115;0.067;0.111	T	0.73344	-0.4012	10	0.38643	T	0.18	.	18.5888	0.91200	0.0:0.0:1.0:0.0	.	93;149;86;139	B7Z8N0;B7Z4M7;Q92913-2;Q92913	.;.;.;FGF13_HUMAN	T	139;86;120;149;93;149;155	ENSP00000322390:P139T;ENSP00000303391:P86T;ENSP00000409276:P120T;ENSP00000359635:P149T;ENSP00000437903:P93T;ENSP00000396198:P149T;ENSP00000406916:P155T	ENSP00000303391:P86T	P	-	1	0	FGF13	137545470	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.568000	0.82369	2.618000	0.88619	0.600000	0.82982	CCT		0.363	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		21	14	1	0	0.000175454	1	0.000185089	21	14				
ASXL3	80816	broad.mit.edu	37	18	31322991	31322991	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:31322991G>C	ENST00000269197.5	+	12	3179	c.3179G>C	c.(3178-3180)cGg>cCg	p.R1060P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1060	Ala-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCAAGGCCCGGGCCCAACAA	0.617																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(3178-3180)cGg>cCg		additional sex combs like 3 (Drosophila)							26.0	28.0	27.0					18																	31322991		1879	4087	5966	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31322991G>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3179G>C	18.37:g.31322991G>C	ENSP00000269197:p.Arg1060Pro						p.R1060P	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	3179	+			1060			Ala-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.3179G>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423019	0.83559	.	.	ENSG00000141431	ENST00000269197	T	0.54866	0.55	5.9	5.9	0.94986	.	1.183800	0.06055	N	0.657294	T	0.75729	0.3889	L	0.59436	1.845	0.49798	D	0.999826	D	0.89917	1.0	D	0.87578	0.998	T	0.65594	-0.6130	10	0.72032	D	0.01	.	20.2861	0.98535	0.0:0.0:1.0:0.0	.	1060	Q9C0F0	ASXL3_HUMAN	P	1060	ENSP00000269197:R1060P	ENSP00000269197:R1060P	R	+	2	0	ASXL3	29576989	1.000000	0.71417	0.925000	0.36789	0.993000	0.82548	9.167000	0.94773	2.786000	0.95864	0.650000	0.86243	CGG		0.617	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			20	13	0	0	0	1	0	20	13				
LRP1B	53353	broad.mit.edu	37	2	141986941	141986941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:141986941C>A	ENST00000389484.3	-	6	1632	c.661G>T	c.(661-663)Gga>Tga	p.G221*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	221					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTACTTCCATTAAGATAG	0.289										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(661-663)Gga>Tga		low density lipoprotein receptor-related protein 1B							41.0	44.0	43.0					2																	141986941		2200	4292	6492	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141986941C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.661G>T	2.37:g.141986941C>A	ENSP00000374135:p.Gly221*	TSP Lung(27;0.18)					p.G221*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	6	1632	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	221					Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.661G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	46	12.560571	0.99678	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	17.6296	0.88103	0.0:1.0:0.0:0.0	.	.	.	.	X	221;159	.	ENSP00000374135:G221X	G	-	1	0	LRP1B	141703411	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.866000	0.69590	2.265000	0.75225	0.585000	0.79938	GGA		0.289	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		20	35	1	0	3.99206e-14	1	4.98154e-14	20	35				
HLA-V	352962	broad.mit.edu	37	6	29761635	29761635	+	RNA	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:29761635G>A	ENST00000457107.1	+	0	861									major histocompatibility complex, class I, V (pseudogene)																		cctgttgtaagtgtgagcaga	0.498																																						ENST00000457107.1																			0																																																			352962							g.chr6:29761635G>A	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761635G>A														0	861	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.498	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		3	17	0	0	0	1	0	3	17				
ANKRD27	84079	broad.mit.edu	37	19	33110209	33110209	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:33110209G>A	ENST00000306065.4	-	20	2122	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	655					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGAGCTGGCTGACATGGAGGA	0.647																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1963-1965)tCa>tTa		ankyrin repeat domain 27 (VPS9 domain)							95.0	88.0	90.0					19																	33110209		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33110209G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1964C>T	19.37:g.33110209G>A	ENSP00000304292:p.Ser655Leu						p.S655L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			20	2122	-	Esophageal squamous(110;0.137)		655					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.1964C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	5.337	0.247431	0.10130	.	.	ENSG00000105186	ENST00000306065	T	0.64618	-0.11	5.57	1.83	0.25207	Ankyrin repeat-containing domain (2);	0.658646	0.13174	N	0.408023	T	0.39627	0.1085	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25187	-1.0139	10	0.02654	T	1	-2.4696	8.4884	0.33084	0.166:0.1373:0.6967:0.0	.	655	Q96NW4	ANR27_HUMAN	L	655	ENSP00000304292:S655L	ENSP00000304292:S655L	S	-	2	0	ANKRD27	37802049	0.012000	0.17670	0.006000	0.13384	0.040000	0.13550	0.888000	0.28268	0.659000	0.30945	0.655000	0.94253	TCA		0.647	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		29	114	0	0	0	1	0	29	114				
DGKI	9162	broad.mit.edu	37	7	137150721	137150721	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:137150721T>C	ENST00000288490.5	-	27	2569	c.2569A>G	c.(2569-2571)Atg>Gtg	p.M857V	DGKI_ENST00000453654.2_Missense_Mutation_p.M567V|DGKI_ENST00000446122.1_Missense_Mutation_p.M839V|DGKI_ENST00000424189.2_Missense_Mutation_p.M870V	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	857					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GACACCACCATATCTGGGTCC	0.512																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1699-1701)Atg>Gtg		diacylglycerol kinase, iota							70.0	72.0	71.0					7																	137150721		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137150721T>C	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2569A>G	7.37:g.137150721T>C	ENSP00000288490:p.Met857Val					DGKI_ENST00000446122.1_Missense_Mutation_p.M839V|DGKI_ENST00000424189.2_Missense_Mutation_p.M870V|DGKI_ENST00000288490.5_Missense_Mutation_p.M857V	p.M567V			O75912	DGKI_HUMAN			27	2238	-			857					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1699A>G	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997888	0.35226	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.31769	2.04;1.48;1.68	5.82	5.82	0.92795	.	0.253930	0.47455	D	0.000233	T	0.15696	0.0378	N	0.08118	0	0.27719	N	0.945201	B;B	0.09022	0.0;0.002	B;B	0.08055	0.0;0.003	T	0.07424	-1.0773	10	0.51188	T	0.08	.	7.6253	0.28208	0.0:0.0717:0.2169:0.7114	.	567;857	E9PFX6;O75912	.;DGKI_HUMAN	V	567;815;860;857;839	ENSP00000392161:M567V;ENSP00000288490:M857V;ENSP00000399131:M839V	ENSP00000288490:M857V	M	-	1	0	DGKI	136801261	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.986000	0.49370	2.234000	0.73211	0.533000	0.62120	ATG		0.512	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		18	74	0	0	0	1	0	18	74				
OR4A15	81328	broad.mit.edu	37	11	55135409	55135409	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:55135409G>A	ENST00000314706.3	+	1	50	c.50G>A	c.(49-51)tGt>tAt	p.C17Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCTTTTGTTTGTAGGCTCCGA	0.433																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(49-51)tGt>tAt		olfactory receptor, family 4, subfamily A, member 15							57.0	51.0	53.0					11																	55135409		2201	4295	6496	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135409G>A	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.50G>A	11.37:g.55135409G>A	ENSP00000325065:p.Cys17Tyr						p.C17Y	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	50	+			17					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.50G>A	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	g	0.273	-0.991661	0.02162	.	.	ENSG00000181958	ENST00000314706	T	0.18810	2.19	2.08	-2.41	0.06562	.	.	.	.	.	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36648	-0.9739	9	0.17832	T	0.49	.	3.3001	0.06980	0.1537:0.0:0.4259:0.4204	.	17	Q8NGL6	O4A15_HUMAN	Y	17	ENSP00000325065:C17Y	ENSP00000325065:C17Y	C	+	2	0	OR4A15	54891985	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.571000	0.02138	-0.961000	0.03609	-0.795000	0.03280	TGT		0.433	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		18	35	0	0	0	1	0	18	35				
GLYATL1	92292	broad.mit.edu	37	11	58714638	58714638	+	Splice_Site	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:58714638G>C	ENST00000317391.4	+	4	418	c.78G>C	c.(76-78)aaG>aaC	p.K26N	GLYATL1_ENST00000300079.5_Intron|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	26						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AGTCCCTGAAGGTCAGGGAAC	0.512																																						ENST00000317391.4																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.e4+1		glycine-N-acyltransferase-like 1	Glycine(DB00145)																																			SO:0001630	splice_region_variant	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58714638G>C	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.78+1G>C	11.37:g.58714638G>C						GLYATL1_ENST00000300079.5_Intron|RP11-142C4.6_ENST00000533954.1_RNA	p.K26_splice	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN			4	418	+			26					A6NDT0|Q7Z510|Q8NAW8	Splice_Site	SNP	ENST00000317391.4	37	c.78_splice	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	11.54	1.669176	0.29604	.	.	ENSG00000166840	ENST00000525608;ENST00000444580;ENST00000317391;ENST00000532726	T;T;T	0.25912	1.77;1.77;1.77	2.73	-2.2	0.06994	Glycine N-acyltransferase, N-terminal (1);	.	.	.	.	T	0.21962	0.0529	M	0.72894	2.215	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.41770	-0.9490	9	0.72032	D	0.01	.	0.298	0.00269	0.2817:0.2036:0.3081:0.2066	.	26	Q969I3	GLYL1_HUMAN	N	26	ENSP00000433716:K26N;ENSP00000322223:K26N;ENSP00000436116:K26N	ENSP00000322223:K26N	K	+	3	2	GLYATL1	58471214	0.008000	0.16893	0.000000	0.03702	0.612000	0.37316	-0.516000	0.06282	-0.993000	0.03467	0.411000	0.27672	AAG		0.512	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	Missense_Mutation	17	31	0	0	0	1	0	17	31				
RBFOX1	54715	broad.mit.edu	37	16	7645622	7645622	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:7645622G>T	ENST00000550418.1	+	8	1528	c.540G>T	c.(538-540)gtG>gtT	p.V180V	RBFOX1_ENST00000547338.1_Silent_p.V180V|RBFOX1_ENST00000340209.4_Silent_p.V185V|RBFOX1_ENST00000552089.1_Silent_p.V197V|RBFOX1_ENST00000547372.1_Silent_p.V223V|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000355637.4_Silent_p.V200V|RBFOX1_ENST00000311745.5_Silent_p.V200V|RBFOX1_ENST00000422070.4_Silent_p.V223V|RBFOX1_ENST00000553186.1_Silent_p.V180V|RBFOX1_ENST00000436368.2_Silent_p.V200V	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	180	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ACGGCACCGTGGTAGAGGGCC	0.448																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(553-555)gtG>gtT		RNA binding protein, fox-1 homolog (C. elegans) 1							168.0	151.0	157.0					16																	7645622		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7645622G>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.540G>T	16.37:g.7645622G>T						RBFOX1_ENST00000552089.1_Silent_p.V197V|RBFOX1_ENST00000311745.5_Silent_p.V200V|RBFOX1_ENST00000550418.1_Silent_p.V180V|RBFOX1_ENST00000422070.4_Silent_p.V223V|RBFOX1_ENST00000547338.1_Silent_p.V180V|RBFOX1_ENST00000436368.2_Silent_p.V200V|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000355637.4_Silent_p.V200V|RBFOX1_ENST00000553186.1_Silent_p.V180V|RBFOX1_ENST00000547372.1_Silent_p.V223V	p.V185V			Q9NWB1	RFOX1_HUMAN			5	852	+			180			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.555G>T	CCDS55983.1																																																																																				0.448	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		43	108	1	0	5.7616e-29	1	8.23086e-29	43	108				
COL24A1	255631	broad.mit.edu	37	1	86590878	86590878	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:86590878C>A	ENST00000370571.2	-	3	1507	c.1141G>T	c.(1141-1143)Gat>Tat	p.D381Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D381Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	381					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACTCTATCATCATGTTGTGTG	0.383																																						ENST00000370571.2																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(1141-1143)Gat>Tat		collagen, type XXIV, alpha 1							160.0	140.0	146.0					1																	86590878		1912	4127	6039	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590878C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1141G>T	1.37:g.86590878C>A	ENSP00000359603:p.Asp381Tyr					COL24A1_ENST00000436319.1_Missense_Mutation_p.D381Y	p.D381Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1507	-			381					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1141G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	4.634	0.117810	0.08881	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.15952	2.38;2.38	5.45	2.34	0.29019	.	0.559113	0.14842	N	0.295220	T	0.03871	0.0109	N	0.08118	0	0.09310	N	1	P;P	0.45827	0.867;0.679	P;B	0.44946	0.465;0.087	T	0.25082	-1.0142	10	0.56958	D	0.05	.	8.293	0.31969	0.0:0.7465:0.0:0.2535	.	381;381	F8WDM8;Q17RW2	.;COOA1_HUMAN	Y	381	ENSP00000359603:D381Y;ENSP00000392531:D381Y	ENSP00000359603:D381Y	D	-	1	0	COL24A1	86363466	0.001000	0.12720	0.005000	0.12908	0.937000	0.57800	-0.094000	0.11094	0.546000	0.28920	0.563000	0.77884	GAT		0.383	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		29	46	1	0	7.26314e-15	1	9.18907e-15	29	46				
COL4A4	1286	broad.mit.edu	37	2	227922252	227922252	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:227922252C>T	ENST00000396625.3	-	29	2655	c.2448G>A	c.(2446-2448)ggG>ggA	p.G816G	COL4A4_ENST00000329662.7_Silent_p.G816G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	816	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CACCTGGAAACCCAGCATGTC	0.547																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(2446-2448)ggG>ggA		collagen, type IV, alpha 4							57.0	59.0	58.0					2																	227922252		1908	4114	6022	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227922252C>T		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2448G>A	2.37:g.227922252C>T						COL4A4_ENST00000329662.7_Silent_p.G816G	p.G816G	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	29	2655	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	816			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.2448G>A	CCDS42828.1																																																																																				0.547	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		11	16	0	0	0	1	0	11	16				
OR2W1	26692	broad.mit.edu	37	6	29012785	29012785	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:29012785A>T	ENST00000377175.1	-	1	232	c.168T>A	c.(166-168)caT>caA	p.H56Q		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ACATTGGTGTATGAAGCTGGG	0.433																																						ENST00000377175.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						c.(166-168)caT>caA		olfactory receptor, family 2, subfamily W, member 1							97.0	103.0	101.0					6																	29012785		1509	2709	4218	SO:0001583	missense	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012785A>T	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.168T>A	6.37:g.29012785A>T	ENSP00000366380:p.His56Gln						p.H56Q	NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN			1	232	-			56					B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	c.168T>A	CCDS4656.1	.	.	.	.	.	.	.	.	.	.	A	8.979	0.974963	0.18736	.	.	ENSG00000204704	ENST00000377175	T	0.15952	2.38	4.78	-2.66	0.06077	GPCR, rhodopsin-like superfamily (1);	0.119377	0.37857	N	0.001919	T	0.05547	0.0146	L	0.60845	1.875	0.32032	N	0.599433	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	10	0.62326	D	0.03	.	6.4989	0.22158	0.4233:0.0:0.459:0.1177	.	56	Q9Y3N9	OR2W1_HUMAN	Q	56	ENSP00000366380:H56Q	ENSP00000366380:H56Q	H	-	3	2	OR2W1	29120764	0.985000	0.35326	0.768000	0.31515	0.343000	0.28985	0.146000	0.16180	-0.175000	0.10725	-0.472000	0.04984	CAT		0.433	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			43	64	0	0	0	1	0	43	64				
SLC35F1	222553	broad.mit.edu	37	6	118596744	118596744	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:118596744G>T	ENST00000360388.4	+	5	961	c.760G>T	c.(760-762)Ggt>Tgt	p.G254C		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	254					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GGGAATGATTGGTCTCTTTGG	0.393																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(760-762)Ggt>Tgt		solute carrier family 35, member F1							108.0	105.0	106.0					6																	118596744		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118596744G>T	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.760G>T	6.37:g.118596744G>T	ENSP00000353557:p.Gly254Cys						p.G254C	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	5	961	+			254					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.760G>T	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734878	0.89482	.	.	ENSG00000196376	ENST00000360388	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.82857	0.5128	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85139	0.0979	9	0.87932	D	0	.	18.9978	0.92819	0.0:0.0:1.0:0.0	.	254	Q5T1Q4	S35F1_HUMAN	C	254	.	ENSP00000353557:G254C	G	+	1	0	SLC35F1	118703437	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.157000	0.94714	2.780000	0.95670	0.655000	0.94253	GGT		0.393	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		38	54	1	0	9.85521e-28	1	1.39424e-27	38	54				
VCAN	1462	broad.mit.edu	37	5	82817080	82817080	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:82817080G>A	ENST00000265077.3	+	7	3520	c.2955G>A	c.(2953-2955)gtG>gtA	p.V985V	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.V937V|VCAN_ENST00000342785.4_Silent_p.V985V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	985	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACTGGGGAGTGTTAGTACCTT	0.428																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2953-2955)gtG>gtA		versican							84.0	84.0	84.0					5																	82817080		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817080G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2955G>A	5.37:g.82817080G>A						VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.V937V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.V985V	p.V985V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	3520	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	985			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.2955G>A	CCDS4060.1																																																																																				0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	70	0	0	0	1	0	4	70				
ZNF804A	91752	broad.mit.edu	37	2	185802584	185802584	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:185802584C>A	ENST00000302277.6	+	4	3055	c.2461C>A	c.(2461-2463)Ccc>Acc	p.P821T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	821							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGATTCCACCCCGGATTTGA	0.388																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2461-2463)Ccc>Acc		zinc finger protein 804A							43.0	49.0	47.0					2																	185802584		2200	4299	6499	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802584C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2461C>A	2.37:g.185802584C>A	ENSP00000303252:p.Pro821Thr						p.P821T	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3055	+			821					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2461C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.795301	0.00076	.	.	ENSG00000170396	ENST00000302277	T	0.05025	3.51	5.81	-7.52	0.01341	.	1.276940	0.05254	N	0.514537	T	0.02012	0.0063	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46652	-0.9176	10	0.07030	T	0.85	0.1148	6.3089	0.21154	0.2541:0.5125:0.0652:0.1682	.	821	Q7Z570	Z804A_HUMAN	T	821	ENSP00000303252:P821T	ENSP00000303252:P821T	P	+	1	0	ZNF804A	185510829	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.155000	0.16362	-0.786000	0.04516	-1.047000	0.02352	CCC		0.388	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		21	43	1	0	8.10497e-08	1	9.08853e-08	21	43				
PGBD2	267002	broad.mit.edu	37	1	249211348	249211348	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:249211348A>C	ENST00000329291.5	+	3	712	c.565A>C	c.(565-567)Agt>Cgt	p.S189R	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000539153.1_Missense_Mutation_p.S186R|PGBD2_ENST00000355360.4_Intron	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	189										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TTTGATTTTAAGTGGGTACAT	0.393																																						ENST00000539153.1																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(556-558)Agt>Cgt		piggyBac transposable element derived 2							149.0	152.0	151.0					1																	249211348		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249211348A>C	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.565A>C	1.37:g.249211348A>C	ENSP00000331643:p.Ser189Arg					PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.S189R|PGBD2_ENST00000355360.4_Intron	p.S186R			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	811	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	189					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.556A>C	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.416110	0.62511	.	.	ENSG00000185220	ENST00000329291;ENST00000539153	T;T	0.18338	2.22;2.22	4.04	4.04	0.47022	.	0.000000	0.41500	D	0.000873	T	0.36248	0.0960	M	0.71581	2.175	0.28307	N	0.922836	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.09751	-1.0660	10	0.35671	T	0.21	-23.6346	9.5734	0.39442	1.0:0.0:0.0:0.0	.	186;189	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	R	189;186	ENSP00000331643:S189R;ENSP00000439950:S186R	ENSP00000331643:S189R	S	+	1	0	PGBD2	247177971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.143000	0.50608	1.820000	0.53075	0.533000	0.62120	AGT		0.393	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			39	215	0	0	0	1	0	39	215				
MSH2	4436	broad.mit.edu	37	2	47707857	47707857	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:47707857G>A	ENST00000233146.2	+	15	2704	c.2481G>A	c.(2479-2481)ggG>ggA	p.G827G	MSH2_ENST00000543555.1_Silent_p.G761G|MSH2_ENST00000406134.1_Silent_p.G827G	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	827					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGTTTTGGGATTCATGTTG	0.408			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		4	Whole gene deletion(2)|Unknown(2)	p.0?(2)|p.?(2)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(2479-2481)ggG>ggA	Mismatch excision repair (MMR)	mutS homolog 2							97.0	92.0	94.0					2																	47707857		2203	4300	6503	SO:0001819	synonymous_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47707857G>A	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2481G>A	2.37:g.47707857G>A						MSH2_ENST00000543555.1_Silent_p.G761G|MSH2_ENST00000233146.2_Silent_p.G827G	p.G827G			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		15	2543	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	827					B4E2Z2|O75488	Silent	SNP	ENST00000233146.2	37	c.2481G>A	CCDS1834.1																																																																																				0.408	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			3	26	0	0	0	1	0	3	26				
GRM1	2911	broad.mit.edu	37	6	146755727	146755727	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:146755727A>T	ENST00000282753.1	+	8	3615	c.3380A>T	c.(3379-3381)gAg>gTg	p.E1127V	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.E1127V			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1127	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTGGAAGAGGAGGAGGAGGAC	0.637																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3379-3381)gAg>gTg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						57.0	63.0	61.0					6																	146755727		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755727A>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3380A>T	6.37:g.146755727A>T	ENSP00000282753:p.Glu1127Val					GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.E1127V|GRM1_ENST00000355289.4_3'UTR	p.E1127V	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3850	+		Ovarian(120;0.0387)	1127			Asp/Glu-rich (acidic).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3380A>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.242175	0.39598	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.88818	-2.43;-2.43	5.3	5.3	0.74995	.	0.315023	0.27052	N	0.021175	T	0.77011	0.4068	L	0.34521	1.04	0.80722	D	1	B	0.26445	0.149	B	0.28232	0.087	T	0.75121	-0.3429	10	0.29301	T	0.29	.	15.2366	0.73436	1.0:0.0:0.0:0.0	.	1127	Q13255	GRM1_HUMAN	V	1127	ENSP00000354896:E1127V;ENSP00000282753:E1127V	ENSP00000282753:E1127V	E	+	2	0	GRM1	146797420	1.000000	0.71417	0.818000	0.32626	0.932000	0.56968	6.508000	0.73721	2.014000	0.59158	0.459000	0.35465	GAG		0.637	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		64	96	0	0	0	1	0	64	96				
NEK10	152110	broad.mit.edu	37	3	27349396	27349396	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:27349396C>G	ENST00000429845.2	-	12	1119	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	NEK10_ENST00000341435.5_Missense_Mutation_p.E253Q			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	253					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AACAGATTTTCTACAATGTTG	0.303																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(757-759)Gaa>Caa		NIMA-related kinase 10							126.0	116.0	119.0					3																	27349396		1567	3580	5147	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27349396C>G	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.757G>C	3.37:g.27349396C>G	ENSP00000395849:p.Glu253Gln					NEK10_ENST00000341435.5_Missense_Mutation_p.E253Q	p.E253Q			Q6ZWH5	NEK10_HUMAN			12	1119	-			253					A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.757G>C		.	.	.	.	.	.	.	.	.	.	C	26.3	4.728278	0.89390	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.48522	0.81	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.105659	0.64402	N	0.000010	T	0.66458	0.2791	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.66084	0.941	T	0.65693	-0.6106	10	0.72032	D	0.01	.	19.6279	0.95687	0.0:1.0:0.0:0.0	.	253	Q6ZWH5	NEK10_HUMAN	Q	253	ENSP00000343847:E253Q	ENSP00000343847:E253Q	E	-	1	0	NEK10	27324400	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.965000	0.70387	2.880000	0.98712	0.650000	0.86243	GAA		0.303	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		17	11	0	0	0	1	0	17	11				
APCDD1	147495	broad.mit.edu	37	18	10471671	10471671	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:10471671C>A	ENST00000355285.5	+	3	741	c.387C>A	c.(385-387)cgC>cgA	p.R129R	APCDD1_ENST00000578882.1_Silent_p.R129R	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GCAAGATCCGCCTCCGCCAGG	0.562																																						ENST00000355285.4																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(385-387)cgC>cgA		adenomatosis polyposis coli down-regulated 1							55.0	56.0	56.0					18																	10471671		2203	4300	6503	SO:0001819	synonymous_variant	147495				hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding	g.chr18:10471671C>A	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.387C>A	18.37:g.10471671C>A						APCDD1_ENST00000578882.1_Silent_p.R129R	p.R129R	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN		READ - Rectum adenocarcinoma(15;0.08)	3	741	+			129						Silent	SNP	ENST00000355285.5	37	c.387C>A	CCDS11849.1																																																																																				0.562	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254529.2	NM_153000		43	72	1	0	6.4771e-29	1	9.23493e-29	43	72				
PCDHGA7	56108	broad.mit.edu	37	5	140764612	140764612	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:140764612C>T	ENST00000518325.1	+	1	2146	c.2146C>T	c.(2146-2148)Ctg>Ttg	p.L716L	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	716					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCTCAGGCTGCGGCGCTG	0.622																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(2146-2148)Ctg>Ttg									55.0	61.0	59.0					5																	140764612		2202	4300	6502	SO:0001819	synonymous_variant	56108							g.chr5:140764612C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2146C>T	5.37:g.140764612C>T						PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.L716L	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2146	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.2146C>T	CCDS54927.1																																																																																				0.622	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		45	37	0	0	0	1	0	45	37				
EPHA3	2042	broad.mit.edu	37	3	89390979	89390979	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:89390979C>A	ENST00000336596.2	+	5	1270	c.1045C>A	c.(1045-1047)Ctg>Atg	p.L349M	EPHA3_ENST00000494014.1_Missense_Mutation_p.L349M|EPHA3_ENST00000452448.2_Missense_Mutation_p.L349M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	349	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			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)		GAGTTGGCCCCTGGACACAGG	0.428										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				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.(1045-1047)Ctg>Atg		EPH receptor A3							87.0	87.0	87.0					3																	89390979		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390979C>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.1045C>A	3.37:g.89390979C>A	ENSP00000337451:p.Leu349Met	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.L349M|EPHA3_ENST00000452448.2_Missense_Mutation_p.L349M	p.L349M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1270	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	349			Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1045C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580412	0.28180	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.57752	0.38;0.38;0.38	5.87	4.06	0.47325	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.275082	0.36374	N	0.002635	T	0.64011	0.2560	M	0.75085	2.285	0.35983	D	0.836168	D;D	0.57571	0.979;0.98	P;P	0.58331	0.837;0.77	T	0.72246	-0.4349	9	.	.	.	.	8.5387	0.33379	0.0:0.7217:0.0:0.2783	.	349;349	P29320;P29320-2	EPHA3_HUMAN;.	M	349	ENSP00000337451:L349M;ENSP00000399926:L349M;ENSP00000419190:L349M	.	L	+	1	2	EPHA3	89473669	0.995000	0.38212	1.000000	0.80357	0.999000	0.98932	2.420000	0.44679	1.616000	0.50265	0.655000	0.94253	CTG		0.428	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		29	61	1	0	1.88708e-17	1	2.47765e-17	29	61				
NLGN1	22871	broad.mit.edu	37	3	173998912	173998912	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:173998912T>C	ENST00000457714.1	+	7	2720	c.2291T>C	c.(2290-2292)cTa>cCa	p.L764P	NLGN1_ENST00000401917.3_Missense_Mutation_p.L804P|NLGN1_ENST00000545397.1_Missense_Mutation_p.L764P|NLGN1_ENST00000361589.4_Missense_Mutation_p.L764P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	781					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATTACACACTAGCTATGAGG	0.468																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(2290-2292)cTa>cCa		neuroligin 1							185.0	165.0	172.0					3																	173998912		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998912T>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2291T>C	3.37:g.173998912T>C	ENSP00000392500:p.Leu764Pro					NLGN1_ENST00000401917.3_Missense_Mutation_p.L804P|NLGN1_ENST00000361589.4_Missense_Mutation_p.L764P|NLGN1_ENST00000545397.1_Missense_Mutation_p.L764P	p.L764P	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2720	+	Ovarian(172;0.0025)		781					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.2291T>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408185	0.83340	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.59	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	D	0.84848	0.5563	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87018	0.2127	10	0.87932	D	0	.	16.0773	0.80976	0.0:0.0:0.0:1.0	.	764	Q8N2Q7-2	.	P	764;764;764;804	ENSP00000392500:L764P;ENSP00000354541:L764P;ENSP00000441108:L764P;ENSP00000385750:L804P	ENSP00000354541:L764P	L	+	2	0	NLGN1	175481606	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.997000	0.88414	2.254000	0.74563	0.482000	0.46254	CTA		0.468	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		60	99	0	0	0	1	0	60	99				
HAVCR1	26762	broad.mit.edu	37	5	156485002	156485002	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:156485002C>A	ENST00000339252.3	-	0	485				HAVCR1_ENST00000544197.1_Intron|HAVCR1_ENST00000425854.1_De_novo_Start_OutOfFrame|HAVCR1_ENST00000523175.1_Intron|HAVCR1_ENST00000522693.1_De_novo_Start_OutOfFrame	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1						viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGTTGGTACCCTCCACCAGAT	0.453																																						ENST00000339252.3																			0				endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28								hepatitis A virus cellular receptor 1							68.0	63.0	65.0					5																	156485002		1945	4143	6088			26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156485002C>A	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.-48G>T	5.37:g.156485002C>A						HAVCR1_ENST00000425854.1_De_novo_Start_OutOfFrame|HAVCR1_ENST00000544197.1_Intron|HAVCR1_ENST00000523175.1_Intron|HAVCR1_ENST00000522693.1_De_novo_Start_OutOfFrame		NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	485	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)						O43656	Translation_Start_Site	SNP	ENST00000339252.3	37		CCDS43392.1																																																																																				0.453	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			12	10	1	0	6.40141e-05	1	6.812e-05	12	10				
CHERP	10523	broad.mit.edu	37	19	16638948	16638948	+	Silent	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:16638948T>C	ENST00000198939.6	-	9	1317	c.1281A>G	c.(1279-1281)ccA>ccG	p.P427P	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000544299.1_5'Flank|CHERP_ENST00000546361.2_Silent_p.P416P					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GGGGCTTGTTTGGTGGGATCT	0.647																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1246-1248)ccA>ccG		calcium homeostasis endoplasmic reticulum protein							47.0	54.0	52.0					19																	16638948		1859	4086	5945	SO:0001819	synonymous_variant	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16638948T>C	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1281A>G	19.37:g.16638948T>C						CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Silent_p.P427P	p.P416P	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			9	1399	-			416			Pro-rich.			Silent	SNP	ENST00000198939.6	37	c.1248A>G																																																																																					0.647	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		32	107	0	0	0	1	0	32	107				
FAT3	120114	broad.mit.edu	37	11	92620259	92620259	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:92620259C>A	ENST00000298047.6	+	24	13048	c.13031C>A	c.(13030-13032)tCa>tAa	p.S4344*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.S4194*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.S679*|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Nonsense_Mutation_p.S4344*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4344					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCTTCCAGTCAGATTCTGGT	0.512										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(13030-13032)tCa>tAa		FAT atypical cadherin 3							52.0	54.0	53.0					11																	92620259		1909	4129	6038	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92620259C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13031C>A	11.37:g.92620259C>A	ENSP00000298047:p.Ser4344*	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Nonsense_Mutation_p.S4194*|FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Nonsense_Mutation_p.S679*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.S4344*	p.S4344*			Q8TDW7	FAT3_HUMAN			24	13048	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4344					B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.13031C>A		.	.	.	.	.	.	.	.	.	.	C	41	8.620907	0.98888	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8991	0.96978	0.0:1.0:0.0:0.0	.	.	.	.	X	4344;4344;4194;679	.	ENSP00000298047:S4344X	S	+	2	0	FAT3	92259907	1.000000	0.71417	0.982000	0.44146	0.953000	0.61014	7.755000	0.85180	2.708000	0.92522	0.655000	0.94253	TCA		0.512	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	16	1	0	0.00198382	1	0.00204836	6	16				
SLC19A3	80704	broad.mit.edu	37	2	228564092	228564092	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:228564092A>G	ENST00000258403.3	-	3	410	c.339T>C	c.(337-339)taT>taC	p.Y113Y	SLC19A3_ENST00000541617.1_Silent_p.Y109Y|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	113					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TGACCATCCCATAGAAGAACT	0.542																																						ENST00000258403.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30						c.(337-339)taT>taC		solute carrier family 19 (thiamine transporter), member 3	L-Cysteine(DB00151)						102.0	102.0	102.0					2																	228564092		2203	4300	6503	SO:0001819	synonymous_variant	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228564092A>G	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.339T>C	2.37:g.228564092A>G						SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Silent_p.Y109Y	p.Y113Y	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	3	410	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	113						Silent	SNP	ENST00000258403.3	37	c.339T>C	CCDS2468.1																																																																																				0.542	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1			6	180	0	0	0	1	0	6	180				
AGPAT4	56895	broad.mit.edu	37	6	161587367	161587367	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:161587367C>T	ENST00000320285.4	-	3	473	c.261G>A	c.(259-261)aaG>aaA	p.K87K	AGPAT4_ENST00000366906.5_Silent_p.K25K|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366905.3_Silent_p.K87K|AGPAT4_ENST00000366908.5_Silent_p.K87K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	87					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TGGCATTTTCCTTCCCATACT	0.532																																						ENST00000320285.4																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(259-261)aaG>aaA		1-acylglycerol-3-phosphate O-acyltransferase 4							92.0	78.0	83.0					6																	161587367		2203	4300	6503	SO:0001819	synonymous_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161587367C>T	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.261G>A	6.37:g.161587367C>T						AGPAT4_ENST00000366906.5_Silent_p.K25K|AGPAT4_ENST00000366908.5_Silent_p.K87K|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366905.3_Silent_p.K87K	p.K87K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	3	473	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	87					B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	c.261G>A	CCDS5280.1																																																																																				0.532	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		34	49	0	0	0	1	0	34	49				
CPM	1368	broad.mit.edu	37	12	69260746	69260746	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:69260746C>T	ENST00000551568.1	-	7	930	c.870G>A	c.(868-870)gaG>gaA	p.E290E	CPM_ENST00000338356.3_Silent_p.E290E|CPM_ENST00000546373.1_Silent_p.E290E	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	carboxypeptidase M	290					anatomical structure morphogenesis (GO:0009653)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GAAGCTTCTCCTCACGAGGAT	0.358																																						ENST00000551568.1																			0				large_intestine(1)|lung(6)|prostate(2)	9						c.(868-870)gaG>gaA		carboxypeptidase M							95.0	92.0	93.0					12																	69260746		2203	4300	6503	SO:0001819	synonymous_variant	1368				anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	g.chr12:69260746C>T	AF368463	CCDS8987.1	12q15	2012-02-10			ENSG00000135678	ENSG00000135678	3.4.17.12		2311	protein-coding gene	gene with protein product	"""renal carboxypeptidase"", ""urinary carboxypeptidase B"""	114860				8586455	Standard	NM_001874		Approved		uc001suq.3	P14384	OTTHUMG00000169300	ENST00000551568.1:c.870G>A	12.37:g.69260746C>T						CPM_ENST00000546373.1_Silent_p.E290E|CPM_ENST00000338356.3_Silent_p.E290E	p.E290E	NM_001005502.2|NM_198320.3	NP_001005502.1|NP_938079.1	P14384	CBPM_HUMAN	all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		7	930	-	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		290					B2R800|Q9H2K9	Silent	SNP	ENST00000551568.1	37	c.870G>A	CCDS8987.1	.	.	.	.	.	.	.	.	.	.	C	7.311	0.614998	0.14129	.	.	ENSG00000135678	ENST00000551897	.	.	.	5.44	1.57	0.23409	.	.	.	.	.	T	0.33206	0.0855	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23868	-1.0176	4	.	.	.	-16.1911	8.0458	0.30549	0.0:0.4882:0.0:0.5118	.	.	.	.	K	93	.	.	R	-	2	0	CPM	67547013	0.000000	0.05858	0.966000	0.40874	0.983000	0.72400	0.017000	0.13399	0.384000	0.24942	-0.140000	0.14226	AGG		0.358	CPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403355.1	NM_198320		33	52	0	0	0	1	0	33	52				
MUC16	94025	broad.mit.edu	37	19	9088007	9088007	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:9088007C>T	ENST00000397910.4	-	1	4011	c.3808G>A	c.(3808-3810)Gct>Act	p.A1270T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1270	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						ACTACTGAAGCCATGGTAAGT	0.493																																						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.(3808-3810)Gct>Act		mucin 16, cell surface associated							377.0	372.0	374.0					19																	9088007		2089	4221	6310	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088007C>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.3808G>A	19.37:g.9088007C>T	ENSP00000381008:p.Ala1270Thr						p.A1270T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	4011	-			1270			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3808G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	1.442	-0.567365	0.03910	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.23	-1.56	0.08532	.	.	.	.	.	T	0.01695	0.0054	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.40079	-0.9582	8	0.87932	D	0	.	6.676	0.23093	0.0:0.6894:0.0:0.3106	.	1270	B5ME49	.	T	1270	ENSP00000381008:A1270T	ENSP00000381008:A1270T	A	-	1	0	MUC16	8949007	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.275000	0.08525	-1.060000	0.03189	-1.842000	0.00583	GCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		154	380	0	0	0	1	0	154	380				
SLC35F2	54733	broad.mit.edu	37	11	107686528	107686528	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:107686528C>T	ENST00000525815.1	-	2	694	c.274G>A	c.(274-276)Gca>Aca	p.A92T	SLC35F2_ENST00000525071.1_Missense_Mutation_p.A92T|SLC35F2_ENST00000375682.4_Missense_Mutation_p.A45T|SLC35F2_ENST00000265836.7_Intron|SLC35F2_ENST00000429869.1_Missense_Mutation_p.A92T	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	92					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GATCGAAATGCCAGCATCACT	0.348																																						ENST00000525071.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(274-276)Gca>Aca		solute carrier family 35, member F2							167.0	154.0	158.0					11																	107686528		1873	4094	5967	SO:0001583	missense	54733				transport	integral to membrane		g.chr11:107686528C>T		CCDS41709.1	11q22.3	2013-05-22			ENSG00000110660	ENSG00000110660		"""Solute carriers"""	23615	protein-coding gene	gene with protein product						9119394	Standard	NM_017515		Approved	FLJ13018	uc001pjq.3	Q8IXU6	OTTHUMG00000166366	ENST00000525815.1:c.274G>A	11.37:g.107686528C>T	ENSP00000436785:p.Ala92Thr					SLC35F2_ENST00000429869.1_Missense_Mutation_p.A92T|SLC35F2_ENST00000375682.4_Missense_Mutation_p.A45T|SLC35F2_ENST00000265836.7_Intron|SLC35F2_ENST00000525815.1_Missense_Mutation_p.A92T	p.A92T			Q8IXU6	S35F2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)	5	862	-		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)	92					Q14963|Q5JPA8|Q6ZRQ3|Q9H947	Missense_Mutation	SNP	ENST00000525815.1	37	c.274G>A	CCDS41709.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932442	0.34096	.	.	ENSG00000110660	ENST00000525815;ENST00000525071;ENST00000375682;ENST00000429869	.	.	.	5.94	4.09	0.47781	.	0.436197	0.27181	N	0.020548	T	0.70561	0.3238	M	0.80847	2.515	0.80722	D	1	B;P	0.38473	0.097;0.633	B;P	0.47299	0.117;0.543	T	0.68006	-0.5523	9	0.30078	T	0.28	.	12.9049	0.58145	0.0:0.8687:0.0:0.1313	.	92;92	E9PJD1;Q8IXU6	.;S35F2_HUMAN	T	92;92;45;92	.	ENSP00000364834:A45T	A	-	1	0	SLC35F2	107191738	1.000000	0.71417	0.998000	0.56505	0.651000	0.38670	1.558000	0.36309	0.865000	0.35603	0.650000	0.86243	GCA		0.348	SLC35F2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389417.1	NM_017515		69	111	0	0	0	1	0	69	111				
SCN1A	6323	broad.mit.edu	37	2	166915161	166915161	+	Missense_Mutation	SNP	C	C	T	rs121917918		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:166915161C>T	ENST00000303395.4	-	2	301	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R101Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.R101Q|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.R101Q|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	101			R -> Q (in EIEE6; dbSNP:rs121917918). {ECO:0000269|PubMed:14738421, ECO:0000269|PubMed:17561957, ECO:0000269|PubMed:19589774, ECO:0000269|PubMed:20431604}.|R -> W (in EIEE6; dbSNP:rs121917965). {ECO:0000269|PubMed:17347258, ECO:0000269|PubMed:20431604}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCACTGAACCGGAAGATGGC	0.358																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200	GRCh37	CM044039	SCN1A	M	rs121917918	c.(301-303)cGg>cAg		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						73.0	71.0	72.0					2																	166915161		2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166915161C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.302G>A	2.37:g.166915161C>T	ENSP00000303540:p.Arg101Gln					SCN1A_ENST00000409050.1_Missense_Mutation_p.R101Q|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R101Q|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R101Q	p.R101Q	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			2	319	-			101		R -> Q (in SMEI; dbSNP:rs121917918).|R -> W (in SMEI; dbSNP:rs121917965).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.302G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011397	0.93346	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98192	-4.78;-4.78;-4.72;-4.72	4.43	4.43	0.53597	.	0.107851	0.41605	D	0.000853	D	0.99321	0.9762	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.98532	1.0628	10	0.87932	D	0	.	17.5909	0.87995	0.0:1.0:0.0:0.0	.	101	P35498-2	.	Q	101	ENSP00000407030:R101Q;ENSP00000303540:R101Q;ENSP00000364554:R101Q;ENSP00000386312:R101Q	ENSP00000303540:R101Q	R	-	2	0	SCN1A	166623407	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.559000	0.82265	2.460000	0.83146	0.491000	0.48974	CGG		0.358	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		13	36	0	0	0	1	0	13	36				
SPATA31A6	389730	broad.mit.edu	37	9	43627664	43627664	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:43627664C>A	ENST00000332857.6	-	4	1051	c.1023G>T	c.(1021-1023)tgG>tgT	p.W341C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	341					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTTTTCTTCCCAAATGTTGA	0.428																																						ENST00000332857.6																			0											c.(1021-1023)tgG>tgT		SPATA31 subfamily A, member 6							1.0	1.0	1.0					9																	43627664		107	348	455	SO:0001583	missense	389730							g.chr9:43627664C>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1023G>T	9.37:g.43627664C>A	ENSP00000329825:p.Trp341Cys						p.W341C	NM_001145196.1	NP_001138668.1					4	1051	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1023G>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	5.503	0.277770	0.10403	.	.	ENSG00000185775	ENST00000332857	T	0.07444	3.19	1.91	1.91	0.25777	.	2.375400	0.01364	N	0.012359	T	0.09598	0.0236	L	0.38838	1.175	0.09310	N	1	P	0.50819	0.939	B	0.41571	0.36	T	0.31696	-0.9934	10	0.66056	D	0.02	6.7463	7.3995	0.26956	0.0:1.0:0.0:0.0	.	341	Q5VVP1	F75A6_HUMAN	C	341	ENSP00000329825:W341C	ENSP00000329825:W341C	W	-	3	0	FAM75A6	43567660	0.014000	0.17966	0.014000	0.15608	0.003000	0.03518	1.876000	0.39588	1.384000	0.46424	0.449000	0.29647	TGG		0.428	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		134	103	1	0	2.27795e-59	1	3.42866e-59	134	103				
LRIT3	345193	broad.mit.edu	37	4	110791582	110791582	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:110791582G>A	ENST00000594814.1	+	4	1677	c.1677G>A	c.(1675-1677)gtG>gtA	p.V559V	LRIT3_ENST00000379920.3_Silent_p.V514V|LRIT3_ENST00000327908.3_Silent_p.V376V|LRIT3_ENST00000409621.2_Silent_p.V376V	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	559	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAAAAGGAGTGCCTCCCCAGA	0.498																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(1126-1128)gtG>gtA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							134.0	124.0	127.0					4																	110791582		2203	4300	6503	SO:0001819	synonymous_variant	345193					integral to membrane		g.chr4:110791582G>A	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1677G>A	4.37:g.110791582G>A						LRIT3_ENST00000594814.1_Silent_p.V559V|LRIT3_ENST00000409621.2_Silent_p.V376V|LRIT3_ENST00000379920.3_Silent_p.V514V	p.V376V			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1892	+			514			Ser-rich.		C9J1C2|Q6ZTG1	Silent	SNP	ENST00000594814.1	37	c.1128G>A	CCDS3688.3																																																																																				0.498	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		35	73	0	0	0	1	0	35	73				
FEZF1	389549	broad.mit.edu	37	7	121942294	121942294	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:121942294G>T	ENST00000442488.2	-	4	1252	c.1185C>A	c.(1183-1185)aaC>aaA	p.N395K	FEZF1_ENST00000331178.4_Missense_Mutation_p.N391K|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.N345K|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	395					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GCTTCTTGTCGTTGTGGGTGT	0.547																																						ENST00000442488.2																			0				breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						c.(1183-1185)aaC>aaA		FEZ family zinc finger 1							195.0	159.0	172.0					7																	121942294		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942294G>T	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1185C>A	7.37:g.121942294G>T	ENSP00000411145:p.Asn395Lys					FEZF1_ENST00000331178.4_Missense_Mutation_p.N391K|FEZF1_ENST00000427185.2_Missense_Mutation_p.N345K	p.N395K	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN			4	1252	-			395					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.1185C>A	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908478	0.52333	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.07216	3.21;3.21;3.21	5.4	0.535	0.17133	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	N	0.16166	0.38	0.45662	D	0.998589	D;D	0.89917	0.999;1.0	D;D	0.67231	0.947;0.95	T	0.04678	-1.0934	10	0.66056	D	0.02	-30.608	10.3377	0.43860	0.3938:0.0:0.6062:0.0	.	395;345	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	K	395;391;345	ENSP00000411145:N395K;ENSP00000332777:N391K;ENSP00000392727:N345K	ENSP00000332777:N391K	N	-	3	2	FEZF1	121729530	0.993000	0.37304	0.999000	0.59377	0.994000	0.84299	0.246000	0.18160	0.143000	0.18926	-0.258000	0.10820	AAC		0.547	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		21	91	1	0	1.64293e-13	1	2.01909e-13	21	91				
MNDA	4332	broad.mit.edu	37	1	158817612	158817612	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:158817612G>C	ENST00000368141.4	+	6	1343	c.1082G>C	c.(1081-1083)tGt>tCt	p.C361S		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	361	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AATATCAAGTGTGAGAAAGGA	0.428																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1081-1083)tGt>tCt		myeloid cell nuclear differentiation antigen							156.0	149.0	152.0					1																	158817612		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158817612G>C	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.1082G>C	1.37:g.158817612G>C	ENSP00000357123:p.Cys361Ser						p.C361S	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			6	1343	+	all_hematologic(112;0.0378)		361			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.1082G>C	CCDS1177.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836048	0.50951	.	.	ENSG00000163563	ENST00000368141	T	0.33216	1.42	3.76	2.83	0.33086	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.000000	0.36932	N	0.002330	T	0.21267	0.0512	M	0.83223	2.63	0.09310	N	1	P	0.47962	0.903	B	0.42361	0.385	T	0.07102	-1.0790	10	0.87932	D	0	-6.08	8.6158	0.33831	0.0:0.0:0.7705:0.2295	.	361	P41218	MNDA_HUMAN	S	361	ENSP00000357123:C361S	ENSP00000357123:C361S	C	+	2	0	MNDA	157084236	0.166000	0.22962	0.005000	0.12908	0.909000	0.53808	1.545000	0.36169	0.878000	0.35920	0.563000	0.77884	TGT		0.428	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		44	79	0	0	0	1	0	44	79				
CDHR1	92211	broad.mit.edu	37	10	85960372	85960372	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:85960372A>T	ENST00000372117.3	+	6	557	c.454A>T	c.(454-456)Agc>Tgc	p.S152C	CDHR1_ENST00000440770.2_5'Flank|CDHR1_ENST00000332904.3_Missense_Mutation_p.S152C	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	152	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCTGCTGGGAGCATCATCTT	0.582																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(454-456)Agc>Tgc		cadherin-related family member 1							92.0	66.0	75.0					10																	85960372		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85960372A>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.454A>T	10.37:g.85960372A>T	ENSP00000361189:p.Ser152Cys					CDHR1_ENST00000332904.3_Missense_Mutation_p.S152C	p.S152C	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			6	557	+			152			Cadherin 2.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.454A>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.815163	0.90790	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.54071	0.59;0.59	5.44	5.44	0.79542	Cadherin (4);Cadherin-like (1);	0.127119	0.64402	D	0.000001	T	0.75148	0.3810	M	0.87381	2.88	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.71870	0.927;0.975	T	0.80248	-0.1461	10	0.72032	D	0.01	-15.5243	14.4699	0.67509	1.0:0.0:0.0:0.0	.	152;152	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	C	152	ENSP00000331063:S152C;ENSP00000361189:S152C	ENSP00000331063:S152C	S	+	1	0	CDHR1	85950352	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.714000	0.74692	2.050000	0.60909	0.533000	0.62120	AGC		0.582	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		6	9	0	0	0	1	0	6	9				
REG1A	5967	broad.mit.edu	37	2	79348048	79348048	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:79348048C>A	ENST00000233735.1	+	2	164	c.61C>A	c.(61-63)Caa>Aaa	p.Q21K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	21					positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						GTCTCAGAGCCAAGGTAAGAT	0.438																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(61-63)Caa>Aaa		regenerating islet-derived 1 alpha							114.0	95.0	102.0					2																	79348048		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79348048C>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.61C>A	2.37:g.79348048C>A	ENSP00000233735:p.Gln21Lys						p.Q21K	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			2	164	+			21					P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.61C>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	16.48	3.136209	0.56936	.	.	ENSG00000115386	ENST00000233735	T	0.63255	-0.03	3.15	3.15	0.36227	.	0.530547	0.14228	N	0.332960	T	0.54854	0.1884	L	0.54863	1.705	0.23649	N	0.997206	P;B	0.47106	0.89;0.003	B;B	0.40782	0.34;0.003	T	0.49615	-0.8921	10	0.40728	T	0.16	.	10.0228	0.42053	0.0:1.0:0.0:0.0	.	21;21	A8K7G6;P05451	.;REG1A_HUMAN	K	21	ENSP00000233735:Q21K	ENSP00000233735:Q21K	Q	+	1	0	REG1A	79201556	0.948000	0.32251	0.917000	0.36280	0.810000	0.45777	2.661000	0.46758	2.056000	0.61249	0.557000	0.71058	CAA		0.438	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		40	17	1	0	5.71845e-15	1	7.24734e-15	40	17				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	327	0	0	0	1	0	5	327				
KRTAP10-11	386678	broad.mit.edu	37	21	46066427	46066427	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr21:46066427C>A	ENST00000334670.8	+	1	97	c.52C>A	c.(52-54)Cag>Aag	p.Q18K	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	18						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CGACTCCTGGCAGGTGGACGA	0.682																																						ENST00000334670.8																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						c.(52-54)Cag>Aag		keratin associated protein 10-11							57.0	62.0	60.0					21																	46066427		2199	4290	6489	SO:0001583	missense	386678					keratin filament		g.chr21:46066427C>A	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.52C>A	21.37:g.46066427C>A	ENSP00000334197:p.Gln18Lys					TSPEAR_ENST00000323084.4_Intron	p.Q18K	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN			1	97	+			18					A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.52C>A	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	c	8.709	0.911493	0.17833	.	.	ENSG00000243489	ENST00000334670	T	0.12672	2.66	3.71	1.61	0.23674	.	.	.	.	.	T	0.17874	0.0429	M	0.84082	2.675	0.19775	N	0.999959	B	0.30914	0.3	B	0.23275	0.045	T	0.11372	-1.0590	9	0.56958	D	0.05	.	9.0371	0.36293	0.0:0.5542:0.4458:0.0	.	18	P60412	KR10B_HUMAN	K	18	ENSP00000334197:Q18K	ENSP00000334197:Q18K	Q	+	1	0	KRTAP10-11	44890855	0.990000	0.36364	0.997000	0.53966	0.092000	0.18411	0.147000	0.16202	0.511000	0.28236	0.462000	0.41574	CAG		0.682	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1	NM_198692		4	138	1	0	1.23904e-05	1	1.34199e-05	4	138				
CEP350	9857	broad.mit.edu	37	1	180047719	180047719	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:180047719G>T	ENST00000367607.3	+	29	6307	c.5889G>T	c.(5887-5889)caG>caT	p.Q1963H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1963					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTATAGGACAGGAGCAGCCAG	0.423																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(5887-5889)caG>caT		centrosomal protein 350kDa							60.0	60.0	60.0					1																	180047719		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180047719G>T	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.5889G>T	1.37:g.180047719G>T	ENSP00000356579:p.Gln1963His						p.Q1963H	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			29	6307	+			1963					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.5889G>T	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.479|6.479	0.456620|0.456620	0.12283|0.12283	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000429851|ENST00000367607	.|T	.|0.48522	.|0.81	5.31|5.31	0.537|0.537	0.17144|0.17144	.|.	.|0.000000	.|0.43416	.|D	.|0.000563	.|T	.|0.52805	.|0.1757	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	0.999995|0.999995	.|D;B	.|0.67145	.|0.996;0.009	.|D;B	.|0.75484	.|0.986;0.008	.|T	.|0.40942	.|-0.9536	.|9	.|.	.|.	.|.	.|.	0.6437|0.6437	0.00815|0.00815	0.3561:0.1507:0.3155:0.1777|0.3561:0.1507:0.3155:0.1777	.|.	.|1963;1963	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	X|H	138|1963	.|ENSP00000356579:Q1963H	.|.	G|Q	+|+	1|3	0|2	CEP350|CEP350	178314342|178314342	0.118000|0.118000	0.22208|0.22208	0.188000|0.188000	0.23233|0.23233	0.037000|0.037000	0.13140|0.13140	-0.595000|-0.595000	0.05727|0.05727	0.286000|0.286000	0.22352|0.22352	0.591000|0.591000	0.81541|0.81541	GGA|CAG		0.423	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		9	40	1	0	5.4927e-09	1	6.27492e-09	9	40				
PRAME	23532	broad.mit.edu	37	22	22892163	22892163	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:22892163A>C	ENST00000398741.1	-	5	1244	c.938T>G	c.(937-939)cTg>cGg	p.L313R	PRAME_ENST00000405655.3_Missense_Mutation_p.L313R|PRAME_ENST00000402697.1_Missense_Mutation_p.L313R|PRAME_ENST00000539862.1_Missense_Mutation_p.L297R|PRAME_ENST00000398743.2_Missense_Mutation_p.L313R|PRAME_ENST00000424204.2_Missense_Mutation_p.L297R|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000543184.1_Missense_Mutation_p.L313R	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	313					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAACTGATCCAGGCGGCCTCT	0.483																																					Melanoma(73;1707 1838 15168 27201)	ENST00000543184.1																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(937-939)cTg>cGg		preferentially expressed antigen in melanoma							43.0	42.0	43.0					22																	22892163		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22892163A>C	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.938T>G	22.37:g.22892163A>C	ENSP00000381726:p.Leu313Arg					PRAME_ENST00000398743.2_Missense_Mutation_p.L313R|PRAME_ENST00000424204.2_Missense_Mutation_p.L297R|PRAME_ENST00000539862.1_Missense_Mutation_p.L297R|PRAME_ENST00000405655.3_Missense_Mutation_p.L313R|PRAME_ENST00000398741.1_Missense_Mutation_p.L313R|PRAME_ENST00000402697.1_Missense_Mutation_p.L313R	p.L313R	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	1800	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	313					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.938T>G	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.548375	0.27652	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.01599	4.74;4.74;4.74;4.74;4.74;4.74;4.74	3.78	3.78	0.43462	.	0.000000	0.64402	D	0.000016	T	0.13372	0.0324	H	0.94462	3.54	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.05289	-1.0894	10	0.87932	D	0	.	9.1966	0.37231	1.0:0.0:0.0:0.0	.	313	P78395	PRAME_HUMAN	R	313;313;313;313;297;313;297	ENSP00000381728:L313R;ENSP00000445675:L313R;ENSP00000381726:L313R;ENSP00000384343:L313R;ENSP00000445097:L297R;ENSP00000385198:L313R;ENSP00000407342:L297R	ENSP00000381726:L313R	L	-	2	0	PRAME	21222163	0.011000	0.17503	0.057000	0.19452	0.051000	0.14879	2.845000	0.48254	1.944000	0.56390	0.533000	0.62120	CTG		0.483	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		18	18	0	0	0	1	0	18	18				
RGS7	6000	broad.mit.edu	37	1	240990451	240990451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:240990451C>A	ENST00000407727.1	-	9	630	c.631G>T	c.(631-633)Gaa>Taa	p.E211*	RGS7_ENST00000366564.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.E158*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.E158*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E211*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000366565.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E185*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E127*			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	211					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ATGTCCACTTCAGTTGTATTT	0.418																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(631-633)Gaa>Taa		regulator of G-protein signaling 7							157.0	137.0	144.0					1																	240990451		2203	4300	6503	SO:0001587	stop_gained	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240990451C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.631G>T	1.37:g.240990451C>A	ENSP00000384428:p.Glu211*					RGS7_ENST00000366563.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E211*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E127*|RGS7_ENST00000348120.2_Nonsense_Mutation_p.E158*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.E185*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E211*|RGS7_ENST00000401882.1_Nonsense_Mutation_p.E158*	p.E211*	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		10	1012	-		all_cancers(173;0.0131)	211					Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Nonsense_Mutation	SNP	ENST00000407727.1	37	c.631G>T		.	.	.	.	.	.	.	.	.	.	C	31	5.103010	0.94245	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000366562;ENST00000407727;ENST00000401882	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.1015	15.0171	0.71594	0.0:1.0:0.0:0.0	.	.	.	.	X	185;211;211;211;42;158;127;211;211;158	.	ENSP00000331485:E185X	E	-	1	0	RGS7	239057074	1.000000	0.71417	0.984000	0.44739	0.788000	0.44548	6.347000	0.73004	2.631000	0.89168	0.655000	0.94253	GAA		0.418	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		17	76	1	0	5.3912e-06	1	5.88278e-06	17	76				
IKZF2	22807	broad.mit.edu	37	2	213914594	213914594	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:213914594G>A	ENST00000434687.1	-	6	726	c.417C>T	c.(415-417)ccC>ccT	p.P139P	IKZF2_ENST00000457361.1_Silent_p.P139P|IKZF2_ENST00000342002.2_Silent_p.P145P|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000374319.4_Silent_p.P113P|IKZF2_ENST00000451136.2_Silent_p.P113P|IKZF2_ENST00000413091.3_Silent_p.P139P|IKZF2_ENST00000421754.2_Silent_p.P113P			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	139					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TACAGTGGAAGGGGCGTTCAC	0.448																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(415-417)ccC>ccT		IKAROS family zinc finger 2 (Helios)							42.0	41.0	41.0					2																	213914594		2203	4300	6503	SO:0001819	synonymous_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213914594G>A	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.417C>T	2.37:g.213914594G>A						IKZF2_ENST00000342002.2_Silent_p.P145P|IKZF2_ENST00000451136.2_Silent_p.P113P|IKZF2_ENST00000374319.4_Silent_p.P113P|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Silent_p.P113P|IKZF2_ENST00000434687.1_Silent_p.P139P|IKZF2_ENST00000413091.3_Silent_p.P139P	p.P139P	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	5	585	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	139					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Silent	SNP	ENST00000434687.1	37	c.417C>T	CCDS2395.1																																																																																				0.448	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		12	22	0	0	0	1	0	12	22				
SLC2A2	6514	broad.mit.edu	37	3	170732404	170732404	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:170732404G>A	ENST00000314251.3	-	3	304	c.225C>T	c.(223-225)aaC>aaT	p.N75N	SLC2A2_ENST00000382808.4_Intron	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	75					carbohydrate metabolic process (GO:0005975)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transmembrane transport (GO:0035428)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	brush border (GO:0005903)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|hexose transmembrane transporter activity (GO:0015149)			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		Streptozocin(DB00428)	TTGGTTTTGGGTTCATTGAGT	0.463																																						ENST00000314251.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(223-225)aaC>aaT		solute carrier family 2 (facilitated glucose transporter), member 2							225.0	216.0	219.0					3																	170732404		2203	4300	6503	SO:0001819	synonymous_variant	6514				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity	g.chr3:170732404G>A	J03810	CCDS3215.1	3q26.2-q27	2013-05-22			ENSG00000163581	ENSG00000163581		"""Solute carriers"""	11006	protein-coding gene	gene with protein product		138160		GLUT2		1852621	Standard	NM_000340		Approved		uc003fhe.1	P11168	OTTHUMG00000158997	ENST00000314251.3:c.225C>T	3.37:g.170732404G>A						SLC2A2_ENST00000382808.4_Intron	p.N75N	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)		3	304	-	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		75					A8K481|B2R936|B7Z547|F8W8V8|Q9UCW9	Silent	SNP	ENST00000314251.3	37	c.225C>T	CCDS3215.1																																																																																				0.463	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	NM_000340		113	57	0	0	0	1	0	113	57				
UGT1A4	54657	broad.mit.edu	37	2	234627556	234627556	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:234627556G>T	ENST00000373409.3	+	1	133	c.90G>T	c.(88-90)aaG>aaT	p.K30N	UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	30					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	AGAGTGGAAAGGTGTTGGTGG	0.667																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(88-90)aaG>aaT									55.0	53.0	53.0					2																	234627556		2203	4300	6503	SO:0001583	missense	54657							g.chr2:234627556G>T	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.90G>T	2.37:g.234627556G>T	ENSP00000362508:p.Lys30Asn					UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron	p.K30N	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	133	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Missense_Mutation	SNP	ENST00000373409.3	37	c.90G>T	CCDS33405.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239189	0.22711	.	.	ENSG00000244474	ENST00000373409	T	0.62639	0.01	4.16	2.3	0.28687	.	.	.	.	.	T	0.67202	0.2868	M	0.79343	2.45	0.28779	N	0.899963	B;B	0.30664	0.285;0.289	B;B	0.42625	0.114;0.393	T	0.63111	-0.6710	9	0.46703	T	0.11	.	7.057	0.25106	0.1633:0.1424:0.6943:0.0	.	30;30	B8K288;P22310	.;UD14_HUMAN	N	30	ENSP00000362508:K30N	ENSP00000362508:K30N	K	+	3	2	UGT1A4	234292295	0.217000	0.23597	0.949000	0.38748	0.004000	0.04260	0.787000	0.26858	0.215000	0.20761	-0.326000	0.08463	AAG		0.667	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		18	49	1	0	9.16793e-09	1	1.04409e-08	18	49				
ACLY	47	broad.mit.edu	37	17	40034450	40034450	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:40034450C>A	ENST00000352035.2	-	22	2524		c.e22-1		ACLY_ENST00000353196.1_Splice_Site|ACLY_ENST00000393896.2_Splice_Site|ACLY_ENST00000537919.1_Splice_Site|ACLY_ENST00000590151.1_Splice_Site	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase						ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTATACAGACCTGGGAGGCAG	0.507																																					Colon(64;807 1396 15971 30971)	ENST00000352035.2																		NTN1/ACLY(2)	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.e22-1		ATP citrate lyase							30.0	26.0	28.0					17																	40034450		2203	4300	6503	SO:0001630	splice_region_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40034450C>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2394-1G>T	17.37:g.40034450C>A						ACLY_ENST00000393896.2_Splice_Site|ACLY_ENST00000537919.1_Splice_Site|ACLY_ENST00000590151.1_Splice_Site|ACLY_ENST00000353196.1_Splice_Site		NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN			22	2524	-		Breast(137;0.000143)						B4DIM0|B4E3P0|Q13037|Q9BRL0	Splice_Site	SNP	ENST00000352035.2	37		CCDS11412.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536755	0.65085	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACLY	37287976	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	7.770000	0.85390	2.679000	0.91253	0.650000	0.86243	.		0.507	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1	NM_001096	Intron	8	25	1	0	0.000157383	1	0.000166266	8	25				
DYNC2LI1	51626	broad.mit.edu	37	2	44021790	44021790	+	Intron	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:44021790G>A	ENST00000260605.8	+	6	607				DYNC2LI1_ENST00000605786.1_Intron|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000489222.2_Intron|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.C172Y	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCTGTGAGTTGCTGTTTGGGA	0.338																																						ENST00000406852.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(514-516)tGc>tAc		dynein, cytoplasmic 2, light intermediate chain 1							139.0	145.0	143.0					2																	44021790		2203	4300	6503	SO:0001627	intron_variant	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44021790G>A		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.507+8G>A	2.37:g.44021790G>A						DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000605786.1_Intron|DYNC2LI1_ENST00000260605.8_Intron|DYNC2LI1_ENST00000489222.2_Intron|DYNC2LI1_ENST00000398823.2_3'UTR	p.C172Y	NM_015522.3	NP_056337.1	Q8TCX1	DC2L1_HUMAN			6	605	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	0					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.515G>A	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	G	0.933	-0.712203	0.03206	.	.	ENSG00000138036	ENST00000406852	T	0.30182	1.54	4.53	1.54	0.23209	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07966	-1.0745	8	0.49607	T	0.09	.	4.6143	0.12418	0.279:0.0:0.5636:0.1574	.	172	Q8TCX1-4	.	Y	172	ENSP00000385738:C172Y	ENSP00000385738:C172Y	C	+	2	0	DYNC2LI1	43875294	0.001000	0.12720	0.979000	0.43373	0.429000	0.31625	-0.098000	0.11024	0.657000	0.30906	0.650000	0.86243	TGC		0.338	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		33	43	0	0	0	1	0	33	43				
TMEM176B	28959	broad.mit.edu	37	7	150493555	150493555	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:150493555G>T	ENST00000447204.2	-	2	475	c.103C>A	c.(103-105)Caa>Aaa	p.Q35K	TMEM176B_ENST00000326442.5_Missense_Mutation_p.Q35K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.Q35K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.Q35K|TMEM176B_ENST00000450753.2_Missense_Mutation_p.Q35K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.Q35K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	35					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCAGCAGTTGTGTCAAAGCT	0.532																																						ENST00000447204.2																			0				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(103-105)Caa>Aaa		transmembrane protein 176B							99.0	91.0	94.0					7																	150493555		2203	4300	6503	SO:0001583	missense	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150493555G>T	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.103C>A	7.37:g.150493555G>T	ENSP00000410269:p.Gln35Lys					TMEM176B_ENST00000450753.2_Missense_Mutation_p.Q35K|TMEM176B_ENST00000492607.1_Missense_Mutation_p.Q35K|TMEM176B_ENST00000434545.1_Missense_Mutation_p.Q35K|TMEM176B_ENST00000429904.2_Missense_Mutation_p.Q35K|TMEM176B_ENST00000326442.5_Missense_Mutation_p.Q35K	p.Q35K	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	475	-			35					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	c.103C>A	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	G	8.275	0.814336	0.16607	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.07908	3.28;3.28;3.28;3.28;3.28;3.15	4.92	2.98	0.34508	.	10.414600	0.00397	N	0.000054	T	0.06142	0.0159	L	0.31420	0.93	0.09310	N	1	P;P	0.42692	0.787;0.787	B;B	0.33121	0.158;0.158	T	0.34925	-0.9809	10	0.07990	T	0.79	-1.0011	8.088	0.30784	0.0:0.1728:0.6484:0.1788	.	35;35	E9PAV4;Q3YBM2	.;T176B_HUMAN	K	35	ENSP00000419258:Q35K;ENSP00000318409:Q35K;ENSP00000410269:Q35K;ENSP00000413531:Q35K;ENSP00000397810:Q35K;ENSP00000404831:Q35K	ENSP00000318409:Q35K	Q	-	1	0	TMEM176B	150124488	0.078000	0.21339	0.028000	0.17463	0.041000	0.13682	1.394000	0.34509	1.024000	0.39682	0.467000	0.42956	CAA		0.532	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		13	74	1	0	0.000151284	1	0.00016052	13	74				
LOC100128164	100128164	broad.mit.edu	37	3	169663677	169663677	+	RNA	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:169663677G>A	ENST00000487580.1	-	0	263				RP11-379K17.4_ENST00000483289.2_RNA																							CATTTTACAGGGCAGGAGCCC	0.453																																						ENST00000483289.2																			0																																																			100128164							g.chr3:169663677G>A																													3.37:g.169663677G>A						RP11-379K17.4_ENST00000487580.1_RNA		NR_027622.1						0	3617	-									RNA	SNP	ENST00000487580.1	37																																																																																						0.453	RP11-379K17.4-003	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000351957.1			25	102	0	0	0	1	0	25	102				
ZNF226	7769	broad.mit.edu	37	19	44679718	44679718	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:44679718G>T	ENST00000590089.1	+	7	670	c.303G>T	c.(301-303)tgG>tgT	p.W101C	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.W101C|ZNF226_ENST00000337433.5_Missense_Mutation_p.W101C			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				TTTCTTGTTGGCAAATCTGGC	0.378																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(301-303)tgG>tgT		zinc finger protein 226							68.0	64.0	65.0					19																	44679718		1858	4119	5977	SO:0001583	missense	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44679718G>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.303G>T	19.37:g.44679718G>T	ENSP00000465121:p.Trp101Cys					ZNF226_ENST00000454662.2_Missense_Mutation_p.W101C|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.W101C	p.W101C			Q9NYT6	ZN226_HUMAN			7	670	+		Prostate(69;0.0352)|all_neural(266;0.202)	101					Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	ENST00000590089.1	37	c.303G>T	CCDS46102.1	.	.	.	.	.	.	.	.	.	.	G	7.078	0.569609	0.13560	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.08546	3.08;3.08	3.81	2.76	0.32466	.	.	.	.	.	T	0.07773	0.0195	L	0.42245	1.32	0.26965	N	0.965718	B	0.12630	0.006	B	0.10450	0.005	T	0.23261	-1.0193	9	0.35671	T	0.21	.	6.6993	0.23217	0.0967:0.0:0.7214:0.1818	.	101	Q9NYT6	ZN226_HUMAN	C	101	ENSP00000336719:W101C;ENSP00000393265:W101C	ENSP00000336719:W101C	W	+	3	0	ZNF226	49371558	0.000000	0.05858	0.898000	0.35279	0.711000	0.40976	0.042000	0.13949	1.185000	0.42971	0.655000	0.94253	TGG		0.378	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			20	20	1	0	1.01871e-10	1	1.21315e-10	20	20				
LINGO4	339398	broad.mit.edu	37	1	151774476	151774476	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:151774476G>T	ENST00000368820.3	-	2	1642	c.705C>A	c.(703-705)atC>atA	p.I235I		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	235						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCAGAGGTGGATCTCCAGCT	0.637																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(703-705)atC>atA		leucine rich repeat and Ig domain containing 4							42.0	48.0	46.0					1																	151774476		2203	4300	6503	SO:0001819	synonymous_variant	339398					integral to membrane		g.chr1:151774476G>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.705C>A	1.37:g.151774476G>T							p.I235I	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1642	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		235						Silent	SNP	ENST00000368820.3	37	c.705C>A	CCDS30855.1																																																																																				0.637	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		27	81	1	0	6.12954e-19	1	8.2102e-19	27	81				
GRIN2A	2903	broad.mit.edu	37	16	9943623	9943623	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:9943623C>T	ENST00000396573.2	-	6	1627	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.V283I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V440I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V440I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V440I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V440I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	440					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGATTTTGACGAACTTCCGA	0.507																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1318-1320)Gtc>Atc		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						144.0	114.0	124.0					16																	9943623		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943623C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1318G>A	16.37:g.9943623C>T	ENSP00000379818:p.Val440Ile					GRIN2A_ENST00000562109.1_Missense_Mutation_p.V440I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V440I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V440I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V283I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V440I	p.V440I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			6	1627	-			440					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1318G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	5.776	0.327510	0.10956	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.11385	2.82;2.78;2.78;2.82;2.82	5.31	3.33	0.38152	Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.225830	0.45606	N	0.000346	T	0.04952	0.0133	N	0.11845	0.185	0.33899	D	0.638264	B;B;B	0.12013	0.005;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.31943	-0.9925	9	.	.	.	.	5.4524	0.16572	0.1459:0.6376:0.1408:0.0757	.	283;440;440	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	I	440;440;283;440;440	ENSP00000379818:V440I;ENSP00000385872:V440I;ENSP00000441572:V283I;ENSP00000332549:V440I;ENSP00000379820:V440I	.	V	-	1	0	GRIN2A	9851124	0.640000	0.27243	0.985000	0.45067	0.998000	0.95712	1.165000	0.31822	0.614000	0.30107	0.650000	0.86243	GTC		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			43	78	0	0	0	1	0	43	78				
MYOCD	93649	broad.mit.edu	37	17	12655897	12655897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:12655897C>T	ENST00000343344.4	+	10	1292	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	MYOCD_ENST00000425538.1_Missense_Mutation_p.P431L|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.P335L			Q8IZQ8	MYCD_HUMAN	myocardin	431					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)			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)		AACACGCTGCCCAATTACCAG	0.577																																						ENST00000425538.1																			0				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.(1291-1293)cCc>cTc		myocardin							149.0	131.0	137.0					17																	12655897		2203	4300	6503	SO:0001583	missense	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.chr17:12655897C>T	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.1292C>T	17.37:g.12655897C>T	ENSP00000341835:p.Pro431Leu					MYOCD_ENST00000343344.4_Missense_Mutation_p.P431L|MYOCD_ENST00000395988.1_Missense_Mutation_p.P335L	p.P431L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1492	+			431					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1292C>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100049	0.56183	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.50001	0.79;0.76	5.66	4.7	0.59300	.	0.353337	0.33401	N	0.004954	T	0.47985	0.1475	L	0.51422	1.61	0.53688	D	0.999973	P;P;P;P	0.37663	0.469;0.604;0.604;0.469	B;B;B;B	0.42653	0.075;0.156;0.394;0.221	T	0.47661	-0.9100	10	0.46703	T	0.11	-10.2235	13.2885	0.60258	0.0:0.9226:0.0:0.0774	.	150;335;431;431	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	L	150;431;431;335;136	ENSP00000341835:P431L;ENSP00000400148:P136L	ENSP00000341835:P431L	P	+	2	0	MYOCD	12596622	1.000000	0.71417	0.656000	0.29637	0.897000	0.52465	5.472000	0.66768	1.399000	0.46721	0.591000	0.81541	CCC		0.577	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		117	116	0	0	0	1	0	117	116				
XIRP2	129446	broad.mit.edu	37	2	167760064	167760064	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:167760064T>A	ENST00000409728.1	+	2	161	c.72T>A	c.(70-72)agT>agA	p.S24R	XIRP2_ENST00000295237.9_Missense_Mutation_p.S24R|XIRP2_ENST00000409756.2_Missense_Mutation_p.S24R|XIRP2_ENST00000420519.1_Missense_Mutation_p.S24R|XIRP2_ENST00000409043.1_Missense_Mutation_p.S24R|XIRP2_ENST00000409195.1_Missense_Mutation_p.S24R	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAGAGAAGTGAGTGTCATC	0.488																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(70-72)agT>agA		xin actin-binding repeat containing 2							70.0	68.0	69.0					2																	167760064		1936	4141	6077	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760064T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.72T>A	2.37:g.167760064T>A	ENSP00000386619:p.Ser24Arg					XIRP2_ENST00000295237.9_Missense_Mutation_p.S24R|XIRP2_ENST00000409728.1_Missense_Mutation_p.S24R|XIRP2_ENST00000409043.1_Missense_Mutation_p.S24R|XIRP2_ENST00000409756.2_Missense_Mutation_p.S24R|XIRP2_ENST00000420519.1_Missense_Mutation_p.S24R	p.S24R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			2	161	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.72T>A	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	T	16.88	3.243584	0.58995	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.83992	-1.78;-1.79;3.59;-1.78;-1.79;3.59	5.36	-6.0	0.02206	.	.	.	.	.	T	0.68357	0.2992	.	.	.	0.09310	N	0.999999	B;B	0.19073	0.008;0.033	B;B	0.19946	0.012;0.027	T	0.55289	-0.8164	8	0.72032	D	0.01	0.1351	1.6767	0.02823	0.1232:0.3051:0.2537:0.318	.	24;24	A4UGR9-4;A4UGR9-6	.;.	R	24	ENSP00000386454:S24R;ENSP00000386619:S24R;ENSP00000386840:S24R;ENSP00000386724:S24R;ENSP00000415541:S24R;ENSP00000295237:S24R	ENSP00000295237:S24R	S	+	3	2	XIRP2	167468310	0.967000	0.33354	0.002000	0.10522	0.050000	0.14768	-0.353000	0.07691	-1.481000	0.01863	-0.336000	0.08194	AGT		0.488	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		33	47	0	0	0	1	0	33	47				
NYAP2	57624	broad.mit.edu	37	2	226447443	226447443	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:226447443C>A	ENST00000272907.6	+	4	1723	c.1310C>A	c.(1309-1311)cCc>cAc	p.P437H	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	437	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TCCACCTCTCCCTCCCCCGTC	0.647																																						ENST00000272907.6																			0											c.(1309-1311)cCc>cAc		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							33.0	38.0	37.0					2																	226447443		2018	4184	6202	SO:0001583	missense	57624							g.chr2:226447443C>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1310C>A	2.37:g.226447443C>A	ENSP00000272907:p.Pro437His					NYAP2_ENST00000409269.2_Intron	p.P437H	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1723	+			437			Pro-rich.		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1310C>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105277	0.77096	.	.	ENSG00000144460	ENST00000272907	T	0.37058	1.22	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59632	-0.7418	10	0.87932	D	0	-16.642	18.7321	0.91739	0.0:1.0:0.0:0.0	.	437	Q9P242	K1486_HUMAN	H	437	ENSP00000272907:P437H	ENSP00000272907:P437H	P	+	2	0	KIAA1486	226155687	1.000000	0.71417	0.077000	0.20336	0.952000	0.60782	7.487000	0.81328	2.415000	0.81967	0.563000	0.77884	CCC		0.647	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		27	24	1	0	1.42536e-11	1	1.71137e-11	27	24				
TDRD6	221400	broad.mit.edu	37	6	46657029	46657029	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:46657029G>T	ENST00000316081.6	+	1	1164	c.1164G>T	c.(1162-1164)tgG>tgT	p.W388C	TDRD6_ENST00000544460.1_Missense_Mutation_p.W388C|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	388					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGAGAGGCTGGTCTCGGTCAC	0.493																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1162-1164)tgG>tgT		tudor domain containing 6							119.0	104.0	109.0					6																	46657029		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46657029G>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1164G>T	6.37:g.46657029G>T	ENSP00000346065:p.Trp388Cys					TDRD6_ENST00000316081.6_Missense_Mutation_p.W388C	p.W388C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	1418	+			388					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.1164G>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483555	0.63962	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.20463	2.07;2.09	5.55	5.55	0.83447	.	0.377397	0.32106	N	0.006570	T	0.39733	0.1089	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.10660	-1.0620	10	0.72032	D	0.01	-7.5697	19.302	0.94148	0.0:0.0:1.0:0.0	.	388;388	F5H5M3;O60522	.;TDRD6_HUMAN	C	388	ENSP00000443299:W388C;ENSP00000346065:W388C	ENSP00000346065:W388C	W	+	3	0	TDRD6	46764988	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.373000	0.79623	2.885000	0.99019	0.655000	0.94253	TGG		0.493	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		52	91	1	0	1.46357e-32	1	2.11986e-32	52	91				
C14orf159	80017	broad.mit.edu	37	14	91662730	91662730	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:91662730A>C	ENST00000523771.1	+	10	1795	c.1192A>C	c.(1192-1194)Acg>Ccg	p.T398P	C14orf159_ENST00000412671.2_Missense_Mutation_p.T403P|C14orf159_ENST00000525393.2_Missense_Mutation_p.T274P|C14orf159_ENST00000256324.10_Missense_Mutation_p.T403P|C14orf159_ENST00000518868.1_Missense_Mutation_p.T403P|C14orf159_ENST00000521077.2_Missense_Mutation_p.T403P|C14orf159_ENST00000522322.1_Missense_Mutation_p.T398P|C14orf159_ENST00000523816.1_Missense_Mutation_p.T398P|C14orf159_ENST00000428926.2_Missense_Mutation_p.T398P|C14orf159_ENST00000520328.1_Missense_Mutation_p.T386P			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	398						mitochondrion (GO:0005739)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGTTCTGAAGACGCAGATCCC	0.473																																						ENST00000518868.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1207-1209)Acg>Ccg		chromosome 14 open reading frame 159							81.0	66.0	71.0					14																	91662730		2203	4300	6503	SO:0001583	missense	80017					mitochondrion		g.chr14:91662730A>C	AK097294	CCDS32141.1, CCDS41979.1, CCDS45150.1, CCDS66693.1, CCDS73677.1	14q32.11	2012-09-26			ENSG00000133943	ENSG00000133943			20498	protein-coding gene	gene with protein product							Standard	NM_001102367		Approved	FLJ39975	uc001xze.2	Q7Z3D6	OTTHUMG00000164980	ENST00000523771.1:c.1192A>C	14.37:g.91662730A>C	ENSP00000429655:p.Thr398Pro					C14orf159_ENST00000523771.1_Missense_Mutation_p.T398P|C14orf159_ENST00000256324.10_Missense_Mutation_p.T403P|C14orf159_ENST00000522322.1_Missense_Mutation_p.T398P|C14orf159_ENST00000521077.2_Missense_Mutation_p.T403P|C14orf159_ENST00000520328.1_Missense_Mutation_p.T386P|C14orf159_ENST00000525393.2_Missense_Mutation_p.T274P|C14orf159_ENST00000523816.1_Missense_Mutation_p.T398P|C14orf159_ENST00000428926.2_Missense_Mutation_p.T398P|C14orf159_ENST00000412671.2_Missense_Mutation_p.T403P	p.T403P			Q7Z3D6	CN159_HUMAN		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)	13	1897	+		all_cancers(154;0.0191)|all_epithelial(191;0.241)	398					B3KUI7|Q86SW3|Q86SX8|Q86SX9|Q86T08|Q86TV5|Q96GW5|Q9H7G0|Q9H8Y9|Q9H9W6	Missense_Mutation	SNP	ENST00000523771.1	37	c.1207A>C	CCDS32141.1	.	.	.	.	.	.	.	.	.	.	A	9.503	1.103664	0.20632	.	.	ENSG00000133943	ENST00000520328;ENST00000256324;ENST00000521077;ENST00000518868;ENST00000523816;ENST00000517518;ENST00000525393;ENST00000428926;ENST00000522322;ENST00000523771;ENST00000412671	T;T;T;T;T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.66	3.27	0.37495	.	0.923206	0.09277	N	0.824284	T	0.29817	0.0745	M	0.65975	2.015	0.27302	N	0.957564	D;P;P;D;D;D	0.54397	0.966;0.952;0.484;0.958;0.958;0.958	P;P;P;P;P;P	0.55303	0.773;0.625;0.455;0.663;0.663;0.663	T	0.11299	-1.0593	10	0.41790	T	0.15	.	5.6788	0.17763	0.6481:0.1308:0.2211:0.0	.	398;274;403;386;403;403	Q7Z3D6;Q8NB88;B3KVU6;Q7Z3D6-5;Q7Z3D6-2;Q7Z3D6-3	CN159_HUMAN;.;.;.;.;.	P	386;403;403;403;398;403;274;398;398;398;403	ENSP00000429453:T386P;ENSP00000256324:T403P;ENSP00000430137:T403P;ENSP00000428263:T403P;ENSP00000428974:T398P;ENSP00000428652:T403P;ENSP00000435459:T274P;ENSP00000404343:T398P;ENSP00000427953:T398P;ENSP00000429655:T398P;ENSP00000404196:T403P	ENSP00000256324:T403P	T	+	1	0	C14orf159	90732483	0.749000	0.28305	0.537000	0.28052	0.062000	0.15995	1.403000	0.34612	0.404000	0.25506	-0.441000	0.05720	ACG		0.473	C14orf159-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381273.1	NM_024952		9	19	0	0	0	1	0	9	19				
TTN	7273	broad.mit.edu	37	2	179411937	179411937	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:179411937T>C	ENST00000591111.1	-	290	89616	c.89392A>G	c.(89392-89394)Aaa>Gaa	p.K29798E	TTN_ENST00000460472.2_Missense_Mutation_p.K22374E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K28871E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K22566E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K31439E|TTN_ENST00000359218.5_Missense_Mutation_p.K22499E			Q8WZ42	TITIN_HUMAN	titin	29798	Fibronectin type-III 117. {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)			CCAATGATTTTACTGCCACCA	0.453																																						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.(94315-94317)Aaa>Gaa		titin							198.0	198.0	198.0					2																	179411937		1919	4121	6040	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411937T>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.89392A>G	2.37:g.179411937T>C	ENSP00000465570:p.Lys29798Glu					TTN_ENST00000591111.1_Missense_Mutation_p.K29798E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K22374E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K28871E|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K22566E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K22499E	p.K31439E	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)		340	94539	-			29798			Fibronectin type-III 129.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.94315A>G		.	.	.	.	.	.	.	.	.	.	T	15.00	2.703820	0.48412	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50667	0.1629	N	0.13043	0.29	0.50813	D	0.999891	D;D;D;P	0.58970	0.984;0.984;0.984;0.956	P;P;P;P	0.53450	0.726;0.726;0.726;0.622	T	0.58329	-0.7655	9	0.87932	D	0	.	16.5655	0.84588	0.0:0.0:0.0:1.0	.	22374;22499;22566;29798	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	28871;22374;22566;22499;22371	ENSP00000343764:K28871E;ENSP00000434586:K22374E;ENSP00000340554:K22566E;ENSP00000352154:K22499E	ENSP00000340554:K22566E	K	-	1	0	TTN	179120183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.998000	0.57024	2.302000	0.77476	0.533000	0.62120	AAA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		104	136	0	0	0	1	0	104	136				
ABCC3	8714	broad.mit.edu	37	17	48735816	48735816	+	Silent	SNP	C	C	T	rs191757325	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:48735816C>T	ENST00000285238.8	+	6	713	c.633C>T	c.(631-633)agC>agT	p.S211S	ABCC3_ENST00000427699.1_Silent_p.S211S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	211					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CTGAGACCAGCGCTGGCTTTC	0.582													C|||	10	0.00199681	0.0	0.0	5008	,	,		17632	0.0099		0.0	False		,,,				2504	0.0					ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(631-633)agC>agT		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)	C	,	1,4405	2.1+/-5.4	0,1,2202	142.0	129.0	133.0		633,633	-9.7	0.0	17		133	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ABCC3	NM_001144070.1,NM_003786.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	211/573,211/1528	48735816	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48735816C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.633C>T	17.37:g.48735816C>T						ABCC3_ENST00000427699.1_Silent_p.S211S	p.S211S	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		6	713	+			211					B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Silent	SNP	ENST00000285238.8	37	c.633C>T	CCDS32681.1																																																																																				0.582	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		50	104	0	0	0	1	0	50	104				
CPXM2	119587	broad.mit.edu	37	10	125506285	125506285	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:125506285C>A	ENST00000241305.3	-	14	2420	c.2266G>T	c.(2266-2268)Ggg>Tgg	p.G756W	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	756					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GAGGGTCACCCACGCTGTCGT	0.582																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(2266-2268)Ggg>Tgg		carboxypeptidase X (M14 family), member 2							47.0	51.0	50.0					10																	125506285		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506285C>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2266G>T	10.37:g.125506285C>A	ENSP00000241305:p.Gly756Trp					CPXM2_ENST00000368854.3_Intron	p.G756W	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2420	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	756					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.2266G>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.939887	0.34189	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	D	0.97041	-4.22	5.32	-0.868	0.10652	.	0.643315	0.14801	N	0.297634	D	0.91264	0.7246	L	0.34521	1.04	0.20074	N	0.999931	B	0.13145	0.007	B	0.08055	0.003	T	0.82820	-0.0268	10	0.87932	D	0	-29.601	0.1293	0.00072	0.3492:0.2192:0.1738:0.2578	.	756	Q8N436	CPXM2_HUMAN	W	756;589;731	ENSP00000241305:G756W	ENSP00000241305:G756W	G	-	1	0	CPXM2	125496275	0.038000	0.19896	0.331000	0.25455	0.826000	0.46750	0.890000	0.28295	0.010000	0.14839	-0.136000	0.14681	GGG		0.582	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		33	35	1	0	6.00712e-18	1	7.9442e-18	33	35				
PCDHGA6	56109	broad.mit.edu	37	5	140755318	140755318	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:140755318T>G	ENST00000517434.1	+	1	1668	c.1668T>G	c.(1666-1668)aaT>aaG	p.N556K	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAATGACAATGCGC	0.642																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1666-1668)aaT>aaG									135.0	154.0	147.0					5																	140755318		2203	4300	6503	SO:0001583	missense	56109							g.chr5:140755318T>G	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1668T>G	5.37:g.140755318T>G	ENSP00000429601:p.Asn556Lys					PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.N556K	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1668	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1668T>G	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.971025	0.34754	.	.	ENSG00000253731	ENST00000517434	D	0.85339	-1.97	4.75	-9.05	0.00730	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.32819	U	0.005610	D	0.95217	0.8449	H	0.99956	5.05	0.26432	N	0.975927	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.89862	0.4017	10	0.87932	D	0	.	16.7259	0.85421	0.0:0.5377:0.0:0.4623	.	556;556	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	K	556	ENSP00000429601:N556K	ENSP00000429601:N556K	N	+	3	2	PCDHGA6	140735502	0.034000	0.19679	0.720000	0.30636	0.190000	0.23558	-0.791000	0.04599	-1.766000	0.01302	-2.157000	0.00329	AAT		0.642	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		155	91	0	0	0	1	0	155	91				
STARD8	9754	broad.mit.edu	37	X	67939133	67939133	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:67939133C>A	ENST00000252336.6	+	6	1914	c.1542C>A	c.(1540-1542)atC>atA	p.I514I	STARD8_ENST00000374597.3_Silent_p.I514I|STARD8_ENST00000374599.3_Silent_p.I594I	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	514					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CGCTGGAGATCAACCGGCAGT	0.607																																						ENST00000252336.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						c.(1540-1542)atC>atA		StAR-related lipid transfer (START) domain containing 8							64.0	45.0	51.0					X																	67939133		2203	4300	6503	SO:0001819	synonymous_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67939133C>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1542C>A	X.37:g.67939133C>A						STARD8_ENST00000374599.3_Silent_p.I594I|STARD8_ENST00000374597.3_Silent_p.I514I	p.I514I	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN			6	1914	+			514					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	c.1542C>A	CCDS14390.1																																																																																				0.607	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		23	9	1	0	3.62473e-10	1	4.22018e-10	23	9				
HAPLN1	1404	broad.mit.edu	37	5	82940381	82940381	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:82940381G>C	ENST00000274341.4	-	4	1426	c.576C>G	c.(574-576)gaC>gaG	p.D192E		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	192	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CGTACAGCTGGTCGAAGGAGG	0.592																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(574-576)gaC>gaG		hyaluronan and proteoglycan link protein 1							43.0	43.0	43.0					5																	82940381		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940381G>C		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.576C>G	5.37:g.82940381G>C	ENSP00000274341:p.Asp192Glu						p.D192E	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1426	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	192			Link 1.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.576C>G	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	G	0.191	-1.053426	0.01965	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307	T;T;T	0.06687	3.27;3.27;3.27	5.8	2.07	0.26955	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.085157	0.85682	D	0.000000	T	0.02047	0.0064	N	0.01081	-1.03	0.80722	D	1	B	0.02656	0.0	B	0.11329	0.006	T	0.46020	-0.9221	10	0.02654	T	1	.	7.7135	0.28692	0.1946:0.1183:0.6871:0.0	.	192	P10915	HPLN1_HUMAN	E	192	ENSP00000274341:D192E;ENSP00000422592:D192E;ENSP00000421341:D192E	ENSP00000274341:D192E	D	-	3	2	HAPLN1	82976137	1.000000	0.71417	0.998000	0.56505	0.323000	0.28346	0.973000	0.29422	0.097000	0.17492	-0.898000	0.02899	GAC		0.592	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		40	21	0	0	0	1	0	40	21				
CCT6P3	643180	broad.mit.edu	37	7	64498796	64498796	+	RNA	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:64498796G>T	ENST00000426828.1	+	0	59					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CGGTGGGAGCGGGTGGCCCGG	0.726																																						ENST00000426828.1																			0																																																			643180							g.chr7:64498796G>T			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498796G>T								NR_033416.1						0	59	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.726	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	19	1	0	0.217242	1	0.218139	4	19				
MAGEA10	4109	broad.mit.edu	37	X	151303506	151303506	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:151303506G>A	ENST00000370323.4	-	4	903	c.587C>T	c.(586-588)cCc>cTc	p.P196L	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P196L	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	196	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGCCAGTGGGATCCACTTC	0.488																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(586-588)cCc>cTc		melanoma antigen family A, 10							78.0	74.0	75.0					X																	151303506		2203	4300	6503	SO:0001583	missense	4109							g.chrX:151303506G>A		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.587C>T	X.37:g.151303506G>A	ENSP00000359347:p.Pro196Leu					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.P196L	p.P196L	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	903	-	Acute lymphoblastic leukemia(192;6.56e-05)		196			MAGE.			Missense_Mutation	SNP	ENST00000370323.4	37	c.587C>T	CCDS14705.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.206359	0.39003	.	.	ENSG00000124260	ENST00000370323;ENST00000244096	T;T	0.05139	3.49;3.49	2.6	1.72	0.24424	.	0.352416	0.28847	N	0.013956	T	0.19167	0.0460	M	0.84219	2.685	0.09310	N	1	D	0.65815	0.995	D	0.64776	0.929	T	0.03354	-1.1045	10	0.87932	D	0	.	4.8941	0.13742	0.1845:0.0:0.8155:0.0	.	196	P43363	MAGAA_HUMAN	L	196	ENSP00000359347:P196L;ENSP00000244096:P196L	ENSP00000244096:P196L	P	-	2	0	MAGEA10	151054162	0.007000	0.16637	0.001000	0.08648	0.064000	0.16182	0.707000	0.25704	0.502000	0.28037	0.292000	0.19580	CCC		0.488	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		38	14	0	0	0	1	0	38	14				
KIAA1257	57501	broad.mit.edu	37	3	128712000	128712000	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:128712000G>T	ENST00000265068.5	-	2	315	c.148C>A	c.(148-150)Cgc>Agc	p.R50S	KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Missense_Mutation_p.R50S|KIAA1257_ENST00000515659.1_5'Flank	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	50										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTGCACGGGCGGTCAGAGTCA	0.602																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(148-150)Cgc>Agc		KIAA1257							74.0	86.0	82.0					3																	128712000		2160	4267	6427	SO:0001583	missense	57501							g.chr3:128712000G>T	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.148C>A	3.37:g.128712000G>T	ENSP00000265068:p.Arg50Ser					KIAA1257_ENST00000511438.1_Missense_Mutation_p.R50S|KIAA1257_ENST00000510149.1_Intron	p.R50S	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			2	315	-			50					Q8IXY7|Q8N5T4	Missense_Mutation	SNP	ENST00000265068.5	37	c.148C>A	CCDS46905.1	.	.	.	.	.	.	.	.	.	.	G	4.448	0.082967	0.08533	.	.	ENSG00000114656	ENST00000511438;ENST00000265068	.	.	.	3.81	-1.71	0.08133	.	.	.	.	.	T	0.08403	0.0209	N	0.08118	0	0.09310	N	0.999999	P;B	0.35328	0.495;0.255	B;B	0.23275	0.045;0.045	T	0.22765	-1.0207	8	0.07644	T	0.81	-0.0198	2.0773	0.03627	0.1027:0.3204:0.2718:0.3051	.	50;50	Q9ULG3;D6RH05	K1257_HUMAN;.	S	50	.	ENSP00000265068:R50S	R	-	1	0	KIAA1257	130194690	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.189000	0.09629	-0.339000	0.08401	-0.494000	0.04653	CGC		0.602	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		22	79	1	0	1.64113e-05	1	1.76961e-05	22	79				
UNC13C	440279	broad.mit.edu	37	15	54556445	54556445	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:54556445G>T	ENST00000260323.11	+	8	3528	c.3528G>T	c.(3526-3528)aaG>aaT	p.K1176N	UNC13C_ENST00000537900.1_Missense_Mutation_p.K1174N|UNC13C_ENST00000545554.1_Missense_Mutation_p.K1176N	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1176					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAAGAATGAAGATCAGGGAGA	0.393																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3526-3528)aaG>aaT		unc-13 homolog C (C. elegans)							57.0	53.0	54.0					15																	54556445		1831	4077	5908	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54556445G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3528G>T	15.37:g.54556445G>T	ENSP00000260323:p.Lys1176Asn					UNC13C_ENST00000537900.1_Missense_Mutation_p.K1174N|UNC13C_ENST00000260323.11_Missense_Mutation_p.K1176N	p.K1176N			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	8	3528	+			1176					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.3528G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604515	0.66445	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81415	-1.49;-1.49;-1.49	5.54	3.66	0.41972	.	0.049046	0.85682	D	0.000000	D	0.87466	0.6184	M	0.83012	2.62	0.46317	D	0.998989	D;P	0.61697	0.99;0.779	D;B	0.66979	0.948;0.158	D	0.86317	0.1690	10	0.72032	D	0.01	.	6.5904	0.22644	0.147:0.0:0.7072:0.1458	.	1176;1176	F5H090;Q8NB66	.;UN13C_HUMAN	N	1176;1176;1174	ENSP00000260323:K1176N;ENSP00000438156:K1176N;ENSP00000442569:K1174N	ENSP00000260323:K1176N	K	+	3	2	UNC13C	52343737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.850000	0.48294	0.809000	0.34255	0.655000	0.94253	AAG		0.393	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		6	7	1	0	0.00116845	1	0.00122026	6	7				
RTN4IP1	84816	broad.mit.edu	37	6	107031225	107031225	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:107031225G>A	ENST00000369063.3	-	8	1526	c.1061C>T	c.(1060-1062)gCa>gTa	p.A354V	RTN4IP1_ENST00000539449.1_3'UTR|RTN4IP1_ENST00000498091.1_5'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	354						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CACCAGTTCTGCAATGTCATC	0.468																																						ENST00000369063.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(1060-1062)gCa>gTa		reticulon 4 interacting protein 1							87.0	72.0	77.0					6																	107031225		2203	4300	6503	SO:0001583	missense	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107031225G>A	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.1061C>T	6.37:g.107031225G>A	ENSP00000358059:p.Ala354Val					RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR	p.A354V	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	8	1526	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	354					Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	ENST00000369063.3	37	c.1061C>T	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828869	0.50845	.	.	ENSG00000130347	ENST00000369063	T	0.42900	0.96	5.78	5.78	0.91487	.	0.206090	0.42172	D	0.000749	T	0.39036	0.1063	M	0.65677	2.01	0.80722	D	1	D	0.57257	0.979	P	0.44673	0.457	T	0.39603	-0.9606	10	0.54805	T	0.06	-16.1991	18.1945	0.89817	0.0:0.0:1.0:0.0	.	354	Q8WWV3	RT4I1_HUMAN	V	354	ENSP00000358059:A354V	ENSP00000358059:A354V	A	-	2	0	RTN4IP1	107137918	0.937000	0.31787	0.240000	0.24138	0.586000	0.36452	4.773000	0.62331	2.724000	0.93272	0.563000	0.77884	GCA		0.468	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			17	18	0	0	0	1	0	17	18				
ELTD1	64123	broad.mit.edu	37	1	79470766	79470766	+	Missense_Mutation	SNP	G	G	T	rs201020837		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:79470766G>T	ENST00000370742.3	-	2	224	c.161C>A	c.(160-162)aCa>aAa	p.T54K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	54	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCACAAATTGTGACACCATT	0.373																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(160-162)aCa>aAa		EGF, latrophilin and seven transmembrane domain containing 1							147.0	133.0	137.0					1																	79470766		1843	4096	5939	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470766G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.161C>A	1.37:g.79470766G>T	ENSP00000359778:p.Thr54Lys						p.T54K	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	224	-			54			EGF-like 1.		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.161C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090398	0.36855	.	.	ENSG00000162618	ENST00000370742	T	0.39787	1.06	5.65	4.73	0.59995	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.385783	0.30383	N	0.009760	T	0.22975	0.0555	L	0.58810	1.83	0.43317	D	0.995336	B	0.21688	0.059	B	0.21151	0.033	T	0.06643	-1.0815	9	.	.	.	.	12.5714	0.56339	0.0:0.167:0.833:0.0	.	54	Q9HBW9	ELTD1_HUMAN	K	54	ENSP00000359778:T54K	.	T	-	2	0	ELTD1	79243354	1.000000	0.71417	0.978000	0.43139	0.492000	0.33523	4.924000	0.63418	1.370000	0.46153	0.591000	0.81541	ACA		0.373	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		38	51	1	0	5.71845e-15	1	7.24734e-15	38	51				
MAGEC1	9947	broad.mit.edu	37	X	140995990	140995990	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:140995990A>G	ENST00000285879.4	+	4	3086	c.2800A>G	c.(2800-2802)Atg>Gtg	p.M934V	MAGEC1_ENST00000406005.2_Start_Codon_SNP_p.M1V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	934	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGGCAGAGATGCTGACGAA	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2800-2802)Atg>Gtg		melanoma antigen family C, 1							160.0	150.0	153.0					X																	140995990		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995990A>G	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2800A>G	X.37:g.140995990A>G	ENSP00000285879:p.Met934Val	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Start_Codon_SNP_p.M1V	p.M934V	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3086	+	Acute lymphoblastic leukemia(192;6.56e-05)		934			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2800A>G	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	6.853	0.526617	0.13066	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04454	3.62;3.62	0.837	0.837	0.18896	.	.	.	.	.	T	0.09642	0.0237	M	0.77313	2.365	0.80722	D	1	B	0.29862	0.259	B	0.36244	0.22	T	0.08827	-1.0703	8	0.72032	D	0.01	.	.	.	.	.	934	O60732	MAGC1_HUMAN	V	934;1	ENSP00000285879:M934V;ENSP00000385500:M1V	ENSP00000285879:M934V	M	+	1	0	MAGEC1	140823656	0.450000	0.25697	0.122000	0.21767	0.078000	0.17371	0.496000	0.22499	0.575000	0.29434	0.231000	0.17811	ATG		0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		117	45	0	0	0	1	0	117	45				
CALCRL	10203	broad.mit.edu	37	2	188223833	188223833	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:188223833T>G	ENST00000409998.1	-	13	1647	c.866A>C	c.(865-867)cAt>cCt	p.H289P	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.H289P|CALCRL_ENST00000392370.3_Missense_Mutation_p.H289P|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	289					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GTAGAGGAGATGGGTATCAGA	0.303																																						ENST00000409998.1																			0				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32						c.(865-867)cAt>cCt		calcitonin receptor-like							166.0	173.0	170.0					2																	188223833		2203	4300	6503	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188223833T>G	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.866A>C	2.37:g.188223833T>G	ENSP00000386972:p.His289Pro					CALCRL_ENST00000410068.1_Missense_Mutation_p.H289P|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.H289P|AC007319.1_ENST00000453517.1_RNA	p.H289P			Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		13	1647	-			289					A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.866A>C	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	T	14.00	2.404374	0.42613	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.36878	1.23;1.23;1.23	5.41	5.41	0.78517	GPCR, family 2-like (1);	0.081909	0.51477	D	0.000096	T	0.29524	0.0736	L	0.31065	0.9	0.46260	D	0.998959	B	0.09022	0.002	B	0.15052	0.012	T	0.04454	-1.0950	10	0.45353	T	0.12	.	14.6247	0.68614	0.0:0.0:0.0:1.0	.	289	Q16602	CALRL_HUMAN	P	289	ENSP00000376177:H289P;ENSP00000386972:H289P;ENSP00000387190:H289P	ENSP00000376177:H289P	H	-	2	0	CALCRL	187932078	1.000000	0.71417	0.955000	0.39395	0.986000	0.74619	4.105000	0.57797	2.064000	0.61679	0.533000	0.62120	CAT		0.303	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		73	117	0	0	0	1	0	73	117				
HBG2	3048	broad.mit.edu	37	11	5275521	5275521	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:5275521C>A	ENST00000380259.2	-	7	1556		c.e7+1		HBG2_ENST00000336906.4_Splice_Site|HBG2_ENST00000380252.1_Splice_Site			P69892	HBG2_HUMAN	hemoglobin, gamma G						blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGACTCACCTTGAAGTTC	0.498																																						ENST00000380259.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.e7+1		hemoglobin, gamma G							164.0	127.0	139.0					11																	5275521		2201	4298	6499	SO:0001630	splice_region_variant	3048							g.chr11:5275521C>A	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.315+1G>T	11.37:g.5275521C>A						HBG2_ENST00000336906.4_Splice_Site|HBG2_ENST00000380252.1_Splice_Site							Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1556	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Splice_Site	SNP	ENST00000380259.2	37		CCDS7755.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500590	0.44455	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	.	.	.	3.98	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9754	0.53089	0.175:0.825:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HBG2	5232097	1.000000	0.71417	0.653000	0.29593	0.641000	0.38312	3.587000	0.53957	0.980000	0.38523	0.650000	0.86243	.		0.498	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184	Intron	28	45	1	0	1.08312e-15	1	1.38715e-15	28	45				
LAMA1	284217	broad.mit.edu	37	18	6943343	6943343	+	Missense_Mutation	SNP	G	G	A	rs202107482	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:6943343G>A	ENST00000389658.3	-	62	8996	c.8903C>T	c.(8902-8904)aCc>aTc	p.T2968I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2968	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CACAGTGGCGGTTTTGGGCTC	0.443													G|||	32	0.00638978	0.0242	0.0	5008	,	,		19751	0.0		0.0	False		,,,				2504	0.0					ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8902-8904)aCc>aTc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						203.0	179.0	187.0					18																	6943343		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943343G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8903C>T	18.37:g.6943343G>A	ENSP00000374309:p.Thr2968Ile						p.T2968I	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			62	8996	-		Colorectal(10;0.172)	2968			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8903C>T	CCDS32787.1	7	0.003205128205128205	7	0.014227642276422764	0	0.0	0	0.0	0	0.0	G	0.023	-1.401067	0.01165	.	.	ENSG00000101680	ENST00000389658	T	0.76578	-1.03	5.45	3.63	0.41609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	1.306100	0.05119	N	0.490378	T	0.57799	0.2078	N	0.25485	0.75	0.09310	N	1	B;B	0.25563	0.129;0.004	B;B	0.24848	0.056;0.017	T	0.51092	-0.8749	10	0.35671	T	0.21	.	3.2913	0.06950	0.1476:0.33:0.3982:0.1241	.	2968;298	P25391;B3KSD8	LAMA1_HUMAN;.	I	2968	ENSP00000374309:T2968I	ENSP00000374309:T2968I	T	-	2	0	LAMA1	6933343	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.658000	0.24979	0.651000	0.30788	0.563000	0.77884	ACC		0.443	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		38	54	0	0	0	1	0	38	54				
CTC1	80169	broad.mit.edu	37	17	8146456	8146456	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:8146456C>A	ENST00000315684.8	-	2	51	c.44G>T	c.(43-45)tGg>tTg	p.W15L	CTC1_ENST00000581671.1_Intron	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	15					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ATCCTCAAGCCAGGCTTGTTC	0.438																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(43-45)tGg>tTg		CTS telomere maintenance complex component 1							42.0	38.0	40.0					17																	8146456		1895	4116	6011	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8146456C>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.44G>T	17.37:g.8146456C>A	ENSP00000313759:p.Trp15Leu					CTC1_ENST00000581671.1_Intron	p.W15L	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			2	51	-			15					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.44G>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841666	0.71488	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.90444	-2.53;-2.67	5.53	5.53	0.82687	.	0.000000	0.56097	D	0.000021	D	0.94611	0.8263	M	0.72118	2.19	0.39184	D	0.96284	D	0.89917	1.0	D	0.87578	0.998	D	0.95129	0.8253	10	0.87932	D	0	-13.3202	14.8344	0.70172	0.0:1.0:0.0:0.0	.	15	Q2NKJ3	CTC1_HUMAN	L	15	ENSP00000313759:W15L;ENSP00000396018:W15L	ENSP00000313759:W15L	W	-	2	0	CTC1	8087181	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.347000	0.52200	2.882000	0.98803	0.655000	0.94253	TGG		0.438	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		20	16	1	0	8.34094e-07	1	9.18384e-07	20	16				
CD1A	909	broad.mit.edu	37	1	158227272	158227272	+	Silent	SNP	A	A	T	rs560873611		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:158227272A>T	ENST00000289429.5	+	5	1478	c.945A>T	c.(943-945)atA>atT	p.I315I		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	315					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TTCTTCTGATAGGTCTTGCGC	0.443																																						ENST00000289429.5																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32						c.(943-945)atA>atT		CD1a molecule	Antithymocyte globulin(DB00098)						400.0	368.0	379.0					1																	158227272		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158227272A>T	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.945A>T	1.37:g.158227272A>T							p.I315I	NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN			5	1478	+	all_hematologic(112;0.0378)		315					D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.945A>T	CCDS1174.1																																																																																				0.443	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		51	157	0	0	0	1	0	51	157				
CRHR2	1395	broad.mit.edu	37	7	30695280	30695280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:30695280G>T	ENST00000471646.1	-	10	1386	c.969C>A	c.(967-969)taC>taA	p.Y323*	CRHR2_ENST00000341843.4_Nonsense_Mutation_p.Y309*|CRHR2_ENST00000348438.4_Nonsense_Mutation_p.Y350*|CRHR2_ENST00000506074.2_Nonsense_Mutation_p.Y323*	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	323					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGAAGAGCATGTAGGTGATGC	0.607																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(967-969)taC>taA		corticotropin releasing hormone receptor 2							163.0	157.0	159.0					7																	30695280		2203	4300	6503	SO:0001587	stop_gained	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30695280G>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.969C>A	7.37:g.30695280G>T	ENSP00000418722:p.Tyr323*					CRHR2_ENST00000341843.4_Nonsense_Mutation_p.Y309*|CRHR2_ENST00000348438.4_Nonsense_Mutation_p.Y350*|CRHR2_ENST00000506074.2_Nonsense_Mutation_p.Y323*	p.Y323*	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			10	1386	-			323					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Nonsense_Mutation	SNP	ENST00000471646.1	37	c.969C>A	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070954	0.93950	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	.	.	.	5.11	4.22	0.49857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6281	0.51158	0.0879:0.0:0.9121:0.0	.	.	.	.	X	323;350;309;323	.	ENSP00000344304:Y309X	Y	-	3	2	CRHR2	30661805	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	5.714000	0.68422	1.273000	0.44346	0.561000	0.74099	TAC		0.607	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			96	84	1	0	4.91162e-27	1	6.93517e-27	96	84				
PSG5	5673	broad.mit.edu	37	19	43683276	43683276	+	Intron	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:43683276T>A	ENST00000366175.3	-	3	561				PSG5_ENST00000407356.1_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.N155I			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5						female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGGGTTTAAGTTGCTACTGGA	0.512																																						ENST00000599812.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(463-465)aAc>aTc		pregnancy specific beta-1-glycoprotein 5							264.0	245.0	251.0					19																	43683276		876	1990	2866	SO:0001627	intron_variant	5673				female pregnancy	extracellular region		g.chr19:43683276T>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.431-2976A>T	19.37:g.43683276T>A						PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000407356.1_Intron	p.N155I			Q15238	PSG5_HUMAN			3	559	-		Prostate(69;0.00899)	155			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.464A>T	CCDS12617.1																																																																																				0.512	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		109	178	0	0	0	1	0	109	178				
GGT5	2687	broad.mit.edu	37	22	24627431	24627431	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:24627431G>T	ENST00000327365.4	-	6	1238	c.822C>A	c.(820-822)ccC>ccA	p.P274P	GGT5_ENST00000263112.7_Silent_p.P242P|GGT5_ENST00000418439.2_Silent_p.P197P|GGT5_ENST00000398292.3_Silent_p.P274P	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	274					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGTCCCCCAGGGGCACCTCCA	0.622																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(820-822)ccC>ccA		gamma-glutamyltransferase 5							29.0	25.0	26.0					22																	24627431		2183	4285	6468	SO:0001819	synonymous_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24627431G>T	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.822C>A	22.37:g.24627431G>T						GGT5_ENST00000418439.2_Silent_p.P197P|GGT5_ENST00000398292.3_Silent_p.P274P|GGT5_ENST00000263112.7_Silent_p.P242P	p.P274P	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			6	1238	-			274					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	c.822C>A	CCDS13825.1																																																																																				0.622	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		3	6	1	0	0.004672	1	0.00476335	3	6				
SPATA17	128153	broad.mit.edu	37	1	217947767	217947767	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:217947767C>G	ENST00000366933.4	+	7	666	c.611C>G	c.(610-612)cCt>cGt	p.P204R		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	204						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CACCGAAGACCTAAAGTTAAG	0.438																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(610-612)cCt>cGt		spermatogenesis associated 17							107.0	101.0	103.0					1																	217947767		2203	4300	6503	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217947767C>G	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.611C>G	1.37:g.217947767C>G	ENSP00000355900:p.Pro204Arg						p.P204R	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	7	666	+			204					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.611C>G	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	C	8.269	0.812849	0.16537	.	.	ENSG00000162814	ENST00000366933	T	0.42900	0.96	5.45	-1.76	0.08006	.	0.679103	0.14012	N	0.347371	T	0.31358	0.0794	M	0.62723	1.935	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22277	-1.0221	10	0.26408	T	0.33	-14.3659	4.2391	0.10640	0.3851:0.2893:0.2568:0.0689	.	204	Q96L03	SPT17_HUMAN	R	204	ENSP00000355900:P204R	ENSP00000355900:P204R	P	+	2	0	SPATA17	216014390	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.124000	0.15728	-0.162000	0.10964	0.563000	0.77884	CCT		0.438	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		56	48	0	0	0	1	0	56	48				
GPR39	2863	broad.mit.edu	37	2	133175182	133175182	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:133175182C>A	ENST00000329321.3	+	1	1036	c.567C>A	c.(565-567)ctC>ctA	p.L189L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	189					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCGGGGTCTCACTTGCAACC	0.627																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(565-567)ctC>ctA		G protein-coupled receptor 39							67.0	64.0	65.0					2																	133175182		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133175182C>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.567C>A	2.37:g.133175182C>A							p.L189L	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			1	1036	+			189					B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.567C>A	CCDS2170.1																																																																																				0.627	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			36	49	1	0	2.09667e-21	1	2.86623e-21	36	49				
EPB41	2035	broad.mit.edu	37	1	29344777	29344777	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:29344777G>A	ENST00000343067.4	+	7	1074	c.947G>A	c.(946-948)gGa>gAa	p.G316E	EPB41_ENST00000373800.3_Missense_Mutation_p.G107E|EPB41_ENST00000349460.4_Missense_Mutation_p.G107E|EPB41_ENST00000373797.1_Missense_Mutation_p.G316E|EPB41_ENST00000373798.1_Missense_Mutation_p.G316E|EPB41_ENST00000398863.2_Missense_Mutation_p.G316E|EPB41_ENST00000356093.2_Missense_Mutation_p.G316E|EPB41_ENST00000347529.3_Missense_Mutation_p.G281E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	316	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATAGTTGCAGGACGTCTGCCC	0.418																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(946-948)gGa>gAa		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							113.0	104.0	107.0					1																	29344777		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29344777G>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.947G>A	1.37:g.29344777G>A	ENSP00000345259:p.Gly316Glu					EPB41_ENST00000373798.1_Missense_Mutation_p.G316E|EPB41_ENST00000373800.3_Missense_Mutation_p.G107E|EPB41_ENST00000356093.2_Missense_Mutation_p.G316E|EPB41_ENST00000349460.4_Missense_Mutation_p.G107E|EPB41_ENST00000347529.3_Missense_Mutation_p.G281E|EPB41_ENST00000398863.2_Missense_Mutation_p.G316E|EPB41_ENST00000373797.1_Missense_Mutation_p.G316E	p.G316E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	7	1074	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	316			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.947G>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299117	0.95574	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.72	5.72	0.89469	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.88768	0.6526	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.996;1.0;0.927;1.0;1.0;1.0;1.0;0.999;1.0	D	0.89406	0.3699	10	0.87932	D	0	.	18.8819	0.92358	0.0:0.0:1.0:0.0	.	316;316;316;316;316;333;281;107;107	E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;41_HUMAN;.;.;.;.;.;.	E	333;316;316;316;210;316;107;107;281;316;316	ENSP00000345259:G316E;ENSP00000348397:G316E;ENSP00000381839:G316E;ENSP00000317597:G107E;ENSP00000362906:G107E;ENSP00000290100:G281E;ENSP00000362904:G316E;ENSP00000362903:G316E	ENSP00000345259:G316E	G	+	2	0	EPB41	29217364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.716000	0.92895	0.650000	0.86243	GGA		0.418	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		34	51	0	0	0	1	0	34	51				
OTOA	146183	broad.mit.edu	37	16	21721379	21721379	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:21721379G>T	ENST00000286149.4	+	12	1318	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	OTOA_ENST00000388958.3_Missense_Mutation_p.K425N|OTOA_ENST00000388957.3_Missense_Mutation_p.K101N|OTOA_ENST00000388956.4_Missense_Mutation_p.K346N			Q7RTW8	OTOAN_HUMAN	otoancorin	439					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTTGGGCCAAGAGCCAGGTCA	0.498																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1273-1275)aaG>aaT		otoancorin							68.0	56.0	60.0					16																	21721379		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21721379G>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1317G>T	16.37:g.21721379G>T	ENSP00000286149:p.Lys439Asn					OTOA_ENST00000388957.3_Missense_Mutation_p.K101N|OTOA_ENST00000286149.4_Missense_Mutation_p.K439N|OTOA_ENST00000388956.4_Missense_Mutation_p.K346N	p.K425N	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	12	1276	+			439					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1275G>T		.	.	.	.	.	.	.	.	.	.	G	18.37	3.608528	0.66558	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.21	-0.13	0.13498	.	0.382752	0.28006	N	0.016980	T	0.77896	0.4199	L	0.59436	1.845	0.29891	N	0.825178	D;D;P;P	0.54601	0.967;0.967;0.943;0.943	P;P;P;P	0.55508	0.777;0.777;0.718;0.718	T	0.72590	-0.4247	10	0.32370	T	0.25	-2.0012	8.5662	0.33540	0.5217:0.0:0.4783:0.0	.	439;346;101;425	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	N	425;439;346;101	ENSP00000373610:K425N;ENSP00000286149:K439N;ENSP00000373608:K346N;ENSP00000373609:K101N	ENSP00000286149:K439N	K	+	3	2	OTOA	21628880	0.907000	0.30839	0.377000	0.26055	0.991000	0.79684	0.578000	0.23773	-0.274000	0.09232	-0.149000	0.13747	AAG		0.498	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			12	22	1	0	1.5842e-08	1	1.79576e-08	12	22				
AURKC	6795	broad.mit.edu	37	19	57743544	57743544	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:57743544G>T	ENST00000302804.7	+	3	434	c.248G>T	c.(247-249)gGa>gTa	p.G83V	AURKC_ENST00000415300.2_Missense_Mutation_p.G64V|AURKC_ENST00000448930.1_Missense_Mutation_p.G49V|AURKC_ENST00000599062.1_Missense_Mutation_p.G80V|AURKC_ENST00000598785.1_Missense_Mutation_p.G49V	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GAGAAGGAAGGACTGGAGCAC	0.512																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(247-249)gGa>gTa		aurora kinase C							58.0	49.0	52.0					19																	57743544		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57743544G>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.248G>T	19.37:g.57743544G>T	ENSP00000302898:p.Gly83Val					AURKC_ENST00000448930.1_Missense_Mutation_p.G49V|AURKC_ENST00000598785.1_Missense_Mutation_p.G49V|AURKC_ENST00000415300.2_Missense_Mutation_p.G64V|AURKC_ENST00000599062.1_Missense_Mutation_p.G80V	p.G83V	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	3	434	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	83			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.248G>T	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.344352	0.61073	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.64085	-0.08;-0.08;-0.08	3.6	3.6	0.41247	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.56877	0.2015	L	0.41710	1.295	0.80722	D	1	P;P;P	0.41265	0.744;0.701;0.699	B;B;B	0.43082	0.372;0.407;0.221	T	0.64474	-0.6399	10	0.72032	D	0.01	-14.0538	13.5496	0.61723	0.0:0.0:1.0:0.0	.	80;83;64	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	V	64;49;83	ENSP00000407162:G64V;ENSP00000406798:G49V;ENSP00000302898:G83V	ENSP00000302898:G83V	G	+	2	0	AURKC	62435356	1.000000	0.71417	0.876000	0.34364	0.830000	0.47004	6.317000	0.72862	2.314000	0.78098	0.555000	0.69702	GGA		0.512	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		19	25	1	0	5.26018e-13	1	6.42129e-13	19	25				
CD300E	342510	broad.mit.edu	37	17	72608865	72608865	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:72608865A>G	ENST00000328630.3	-	4	585	c.545T>C	c.(544-546)cTg>cCg	p.L182P	CD300E_ENST00000426295.2_Missense_Mutation_p.L223P|CD300E_ENST00000392619.1_Missense_Mutation_p.L209P			Q496F6	CLM2_HUMAN	CD300e molecule	182					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGCAGGGGCAGCTTCAGAAG	0.617																																						ENST00000392619.1																			0				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(625-627)cTg>cCg		CD300e molecule							81.0	76.0	78.0					17																	72608865		2203	4300	6503	SO:0001583	missense	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72608865A>G	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.545T>C	17.37:g.72608865A>G	ENSP00000329942:p.Leu182Pro					CD300E_ENST00000328630.3_Missense_Mutation_p.L182P|CD300E_ENST00000426295.2_Missense_Mutation_p.L223P	p.L209P	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN			4	661	-			182					B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	c.626T>C	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638297	0.47153	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630	T;T;T	0.05199	3.5;3.48;3.53	4.02	4.02	0.46733	.	0.971832	0.08322	U	0.963618	T	0.23094	0.0558	M	0.66297	2.02	0.54753	D	0.999988	D	0.89917	1.0	D	0.76071	0.987	T	0.00364	-1.1787	10	0.87932	D	0	-3.7126	9.8608	0.41114	1.0:0.0:0.0:0.0	.	182	Q496F6	CLM2_HUMAN	P	209;223;182	ENSP00000376395:L209P;ENSP00000416642:L223P;ENSP00000329942:L182P	ENSP00000329942:L182P	L	-	2	0	CD300E	70120460	0.985000	0.35326	1.000000	0.80357	0.536000	0.34869	1.863000	0.39459	1.779000	0.52309	0.172000	0.16884	CTG		0.617	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		68	99	0	0	0	1	0	68	99				
CCDC114	93233	broad.mit.edu	37	19	48806048	48806048	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:48806048C>A	ENST00000315396.7	-	10	1714	c.1032G>T	c.(1030-1032)aaG>aaT	p.K344N		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	344					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCTGCAACACCTTCTGCTGCT	0.622																																						ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1030-1032)aaG>aaT		coiled-coil domain containing 114							101.0	94.0	96.0					19																	48806048		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806048C>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1032G>T	19.37:g.48806048C>A	ENSP00000318429:p.Lys344Asn						p.K344N	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	10	1714	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	344					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1032G>T	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	c	0.272	-0.992534	0.02162	.	.	ENSG00000105479	ENST00000315396	T	0.25912	1.77	3.88	-7.76	0.01232	.	2.236220	0.02743	N	0.116463	T	0.13457	0.0326	N	0.24115	0.695	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.10753	-1.0616	10	0.34782	T	0.22	0.6932	1.5926	0.02657	0.4181:0.0932:0.2494:0.2393	.	137;344;344	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	N	344	ENSP00000318429:K344N	ENSP00000318429:K344N	K	-	3	2	CCDC114	53497860	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.771000	0.00188	-4.794000	0.00031	-2.319000	0.00253	AAG		0.622	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		31	137	1	0	4.74835e-14	1	5.89507e-14	31	137				
CACNG8	59283	broad.mit.edu	37	19	54483177	54483177	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:54483177G>C	ENST00000270458.2	+	3	527	c.424G>C	c.(424-426)Ggg>Cgg	p.G142R	MIR935_ENST00000401179.1_RNA	NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	142					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GCTGCTGCTCGGGGGTGTGTG	0.637																																						ENST00000270458.2																			0				kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13						c.(424-426)Ggg>Cgg		calcium channel, voltage-dependent, gamma subunit 8							33.0	34.0	34.0					19																	54483177		2203	4300	6503	SO:0001583	missense	59283				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54483177G>C	AF288388	CCDS33104.1	19q13.4	2008-05-02			ENSG00000142408	ENSG00000142408		"""Calcium channel subunits"""	13628	protein-coding gene	gene with protein product		606900				11170751	Standard	NM_031895		Approved		uc002qcs.2	Q8WXS5	OTTHUMG00000064908	ENST00000270458.2:c.424G>C	19.37:g.54483177G>C	ENSP00000270458:p.Gly142Arg						p.G142R	NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN		GBM - Glioblastoma multiforme(134;0.162)	3	527	+	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)		142					Q9BXT0|Q9BY23	Missense_Mutation	SNP	ENST00000270458.2	37	c.424G>C	CCDS33104.1	.	.	.	.	.	.	.	.	.	.	.	31	5.104819	0.94245	.	.	ENSG00000142408	ENST00000270458	D	0.91068	-2.78	4.53	4.53	0.55603	.	0.000000	0.64402	U	0.000003	D	0.95623	0.8577	M	0.87682	2.9	0.38363	D	0.944671	D	0.89917	1.0	D	0.97110	1.0	D	0.96369	0.9272	9	0.66056	D	0.02	-11.9773	15.2573	0.73596	0.0:0.0:1.0:0.0	.	142	Q8WXS5	CCG8_HUMAN	R	142	ENSP00000270458:G142R	ENSP00000270458:G142R	G	+	1	0	CACNG8	59174989	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	9.233000	0.95337	2.283000	0.76528	0.531000	0.56144	GGG		0.637	CACNG8-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139361.3			8	24	0	0	0	1	0	8	24				
RAPGEF6	51735	broad.mit.edu	37	5	130764823	130764823	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:130764823C>T	ENST00000509018.1	-	27	4757	c.4552G>A	c.(4552-4554)Gac>Aac	p.D1518N	RAPGEF6_ENST00000507093.1_Intron|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.D1568N|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1526N|RAPGEF6_ENST00000307984.5_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1518					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCCTTTAGGTCCGCTAAAGAA	0.493																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4552-4554)Gac>Aac		Rap guanine nucleotide exchange factor (GEF) 6							113.0	111.0	112.0					5																	130764823		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130764823C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4552G>A	5.37:g.130764823C>T	ENSP00000421684:p.Asp1518Asn					RAPGEF6_ENST00000307984.5_Intron|FNIP1_ENST00000514667.1_Missense_Mutation_p.D1568N|RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1526N	p.D1518N	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	27	4757	-			1518					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.4552G>A	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878107	0.91664	.	.	ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000296859;ENST00000514667	T;T;T	0.30714	1.52;1.52;1.62	5.06	5.06	0.68205	.	0.046435	0.85682	D	0.000000	T	0.51736	0.1692	M	0.63843	1.955	0.80722	D	1	D;D;D	0.67145	0.984;0.996;0.984	P;P;P	0.61477	0.889;0.889;0.889	T	0.53788	-0.8389	10	0.72032	D	0.01	.	18.6094	0.91279	0.0:1.0:0.0:0.0	.	1526;1568;1518	B7ZML2;E9PCH4;Q8TEU7	.;.;RPGF6_HUMAN	N	1518;1526;1568	ENSP00000421684:D1518N;ENSP00000296859:D1526N;ENSP00000426948:D1568N	ENSP00000426948:D1568N	D	-	1	0	RAPGEF6;FNIP1	130792722	1.000000	0.71417	0.961000	0.40146	0.701000	0.40568	6.798000	0.75155	2.638000	0.89438	0.655000	0.94253	GAC		0.493	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		49	29	0	0	0	1	0	49	29				
ROCK2	9475	broad.mit.edu	37	2	11337449	11337449	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:11337449C>T	ENST00000315872.6	-	27	3753	c.3305G>A	c.(3304-3306)cGa>cAa	p.R1102Q	ROCK2_ENST00000401753.1_Missense_Mutation_p.R859Q	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1102					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAGTTCAATTCGAATCTGGCT	0.368																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(3304-3306)cGa>cAa		Rho-associated, coiled-coil containing protein kinase 2							112.0	102.0	105.0					2																	11337449		1916	4133	6049	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11337449C>T	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3305G>A	2.37:g.11337449C>T	ENSP00000317985:p.Arg1102Gln					ROCK2_ENST00000401753.1_Missense_Mutation_p.R859Q	p.R1102Q	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	27	3753	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1102					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.3305G>A	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112265	0.94339	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.61274	0.12;1.14	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.72894	2.215	0.51233	D	0.999911	D	0.64830	0.994	P	0.52710	0.707	T	0.62599	-0.6820	10	0.13853	T	0.58	.	19.8885	0.96919	0.0:1.0:0.0:0.0	.	1102	O75116	ROCK2_HUMAN	Q	1102;859;460	ENSP00000317985:R1102Q;ENSP00000385509:R859Q	ENSP00000317985:R1102Q	R	-	2	0	ROCK2	11254900	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.803000	0.85983	2.700000	0.92200	0.563000	0.77884	CGA		0.368	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			11	36	0	0	0	1	0	11	36				
KIAA1324L	222223	broad.mit.edu	37	7	86544177	86544177	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:86544177C>A	ENST00000450689.2	-	13	1779		c.e13-1		KIAA1324L_ENST00000416314.1_Splice_Site|KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000297222.6_Splice_Site|KIAA1324L_ENST00000490995.1_Splice_Site	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like							integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATTAATATCCTGAAATATAG	0.289																																						ENST00000450689.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.e13-1		KIAA1324-like							101.0	90.0	94.0					7																	86544177		2203	4300	6503	SO:0001630	splice_region_variant	222223					integral to membrane		g.chr7:86544177C>A	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1594-1G>T	7.37:g.86544177C>A						KIAA1324L_ENST00000444627.1_Splice_Site|KIAA1324L_ENST00000490995.1_Splice_Site|KIAA1324L_ENST00000416314.1_Splice_Site|KIAA1324L_ENST00000297222.6_Splice_Site		NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN			13	1779	-	Esophageal squamous(14;0.0058)							A4D1C9|B4DJV3|Q17RI6|Q96DP2	Splice_Site	SNP	ENST00000450689.2	37		CCDS47632.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767797	0.69878	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314;ENST00000423294	.	.	.	5.95	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2363	0.82377	0.0:0.8671:0.1329:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1324L	86382113	1.000000	0.71417	0.999000	0.59377	0.899000	0.52679	7.238000	0.78173	1.497000	0.48584	0.563000	0.77884	.		0.289	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	NM_152748	Intron	7	19	1	0	0.00198382	1	0.00204836	7	19				
KMT2B	9757	broad.mit.edu	37	19	36223501	36223501	+	Silent	SNP	C	C	T	rs374561411		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:36223501C>T	ENST00000222270.7	+	28	6051	c.6051C>T	c.(6049-6051)caC>caT	p.H2017H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Silent_p.H2017H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2017					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGAGCAGCCACGGGGGCCCGG	0.687																																						ENST00000420124.1																			0											c.(6049-6051)caC>caT				C		0,3828		0,0,1914	17.0	22.0	21.0		6051	-9.1	0.5	19		21	6,8236		0,6,4115	no	coding-synonymous	MLL4	NM_014727.1		0,6,6029	TT,TC,CC		0.0728,0.0,0.0497		2017/2716	36223501	6,12064	1914	4121	6035	SO:0001819	synonymous_variant	9757							g.chr19:36223501C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6051C>T	19.37:g.36223501C>T						WBP7_ENST00000222270.7_Silent_p.H2017H|KMT2B_ENST00000607650.1_RNA	p.H2017H							28	6051	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Silent	SNP	ENST00000222270.7	37	c.6051C>T	CCDS46055.1																																																																																				0.687	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		17	28	0	0	0	1	0	17	28				
KLK15	55554	broad.mit.edu	37	19	51330287	51330287	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:51330287G>T	ENST00000598239.1	-	3	358	c.328C>A	c.(328-330)Ctg>Atg	p.L110M	KLK15_ENST00000596931.1_Missense_Mutation_p.L109M|KLK15_ENST00000416184.1_Missense_Mutation_p.L110M|KLK15_ENST00000301421.2_Missense_Mutation_p.L110M|KLK15_ENST00000326856.4_Missense_Mutation_p.L109M	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	110	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACTAGGCGCAGCAACATGATG	0.692																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(325-327)Ctg>Atg		kallikrein-related peptidase 15							61.0	56.0	57.0					19																	51330287		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330287G>T	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.328C>A	19.37:g.51330287G>T	ENSP00000469315:p.Leu110Met					KLK15_ENST00000301421.2_Missense_Mutation_p.L110M|KLK15_ENST00000596931.1_Missense_Mutation_p.L109M|KLK15_ENST00000416184.1_Missense_Mutation_p.L110M|KLK15_ENST00000598239.1_Missense_Mutation_p.L110M	p.L109M	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	454	-		all_neural(266;0.057)	110			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.325C>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	g	19.95	3.921436	0.73213	.	.	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.95918	-3.85;-3.85	4.5	-2.27	0.06846	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.212597	0.23602	N	0.046431	D	0.94758	0.8308	L	0.59967	1.855	0.27897	N	0.939118	D;D;P;D	0.71674	0.978;0.996;0.923;0.998	P;D;P;D	0.75020	0.823;0.968;0.537;0.985	D	0.87242	0.2267	10	0.56958	D	0.05	.	1.2188	0.01919	0.2701:0.3037:0.2904:0.1358	.	110;109;110;110	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	M	110	ENSP00000415136:L110M;ENSP00000301421:L110M	ENSP00000301421:L110M	L	-	1	2	KLK15	56022099	0.742000	0.28228	0.072000	0.20136	0.359000	0.29487	-0.044000	0.12023	-0.315000	0.08703	0.555000	0.69702	CTG		0.692	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		34	93	1	0	6.84511e-11	1	8.16492e-11	34	93				
ANKDD1A	348094	broad.mit.edu	37	15	65219136	65219136	+	Missense_Mutation	SNP	G	G	T	rs201127218		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:65219136G>T	ENST00000380230.3	+	6	537	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.G170W|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.G170W|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.G79W|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.G79W|ANKDD1A_ENST00000491145.1_3'UTR	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	170					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AGCTGAGCACGGGCAGCTGGA	0.622																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(508-510)Ggg>Tgg		ankyrin repeat and death domain containing 1A							133.0	116.0	122.0					15																	65219136		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65219136G>T		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.508G>T	15.37:g.65219136G>T	ENSP00000369579:p.Gly170Trp					AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.G79W|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.G170W|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.G170W|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.G79W	p.G170W	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			6	537	+			170					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.508G>T	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404814	0.62288	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000496660;ENST00000395723	T;T;T;T;T	0.77877	-0.75;-0.75;-0.75;-1.13;-0.75	4.23	3.31	0.37934	Ankyrin repeat-containing domain (4);	0.181620	0.34245	N	0.004138	D	0.90342	0.6978	H	0.96777	3.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90267	0.4305	10	0.87932	D	0	-20.9523	7.8875	0.29659	0.1134:0.0:0.8866:0.0	.	170;76;170;170	Q495B1;A4QMR4;Q495B1-2;Q495B1-1	AKD1A_HUMAN;.;.;.	W	170;170;170;79;79	ENSP00000369579:G170W;ENSP00000350329:G170W;ENSP00000379070:G170W;ENSP00000420999:G79W;ENSP00000379073:G79W	ENSP00000350329:G170W	G	+	1	0	ANKDD1A	63006189	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	3.929000	0.56514	1.141000	0.42275	0.561000	0.74099	GGG		0.622	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		51	105	1	0	1.46156e-29	1	2.09614e-29	51	105				
PCDHB11	56125	broad.mit.edu	37	5	140580935	140580935	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:140580935C>T	ENST00000354757.3	+	1	1588	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R165C	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	530	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGACTTCCGCGTGGGCGC	0.672																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1588-1590)Cgc>Tgc									55.0	72.0	66.0					5																	140580935		2202	4300	6502	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580935C>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1588C>T	5.37:g.140580935C>T	ENSP00000346802:p.Arg530Cys					PCDHB11_ENST00000536699.1_Missense_Mutation_p.R165C	p.R530C	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1588	+			530			Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1588C>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	8.307	0.821139	0.16678	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.01767	4.65;4.65	2.51	-5.02	0.02982	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.02418	0.0074	L	0.60957	1.885	0.09310	N	1	B	0.27286	0.174	B	0.36504	0.226	T	0.43637	-0.9379	9	0.52906	T	0.07	.	2.86	0.05584	0.2783:0.282:0.3446:0.0951	.	530	Q9Y5F2	PCDBB_HUMAN	C	165;530	ENSP00000440344:R165C;ENSP00000346802:R530C	ENSP00000346802:R530C	R	+	1	0	PCDHB11	140561119	0.000000	0.05858	0.002000	0.10522	0.089000	0.18198	-3.816000	0.00359	-1.199000	0.02666	0.298000	0.19748	CGC		0.672	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		114	63	0	0	0	1	0	114	63				
FCGR3A	2214	broad.mit.edu	37	1	161599676	161599676	+	Intron	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:161599676C>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.A107T|FCGR3B_ENST00000367964.2_Missense_Mutation_p.A71T|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.A71T			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TAGCTCGAGGCCTGGCTTGAG	0.542																																						ENST00000294800.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18						c.(211-213)Gcc>Acc		Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						82.0	84.0	83.0					1																	161599676		2161	4298	6459	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161599676C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+481G>A	1.37:g.161599676C>T						FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Missense_Mutation_p.A71T|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.A107T	p.A71T	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	484	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		71			Ig-like C2-type 1.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.211G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.031|0.031	-1.332014|-1.332014	0.01298|0.01298	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776|ENST00000421702	T;T;T;T|.	0.07567|.	3.18;3.18;3.18;3.18|.	2.79|2.79	-5.57|-5.57	0.02521|0.02521	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	4.405600|.	0.00166|.	N|.	0.000009|.	T|T	0.02848|0.02848	0.0085|0.0085	N|N	0.03268|0.03268	-0.37|-0.37	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.32428|0.32428	-0.9907|-0.9907	10|5	0.02654|.	T|.	1|.	.|.	3.671|3.671	0.08273|0.08273	0.2678:0.357:0.0:0.3753|0.2678:0.357:0.0:0.3753	.|.	71|.	O75015|.	FCG3B_HUMAN|.	T|D	71;71;107;54|91	ENSP00000356941:A71T;ENSP00000294800:A71T;ENSP00000433642:A107T;ENSP00000437084:A54T|.	ENSP00000294800:A71T|.	A|G	-|-	1|2	0|0	FCGR3B|FCGR3B	159866300|159866300	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.194000|0.194000	0.23727|0.23727	-4.158000|-4.158000	0.00283|0.00283	-1.919000|-1.919000	0.01071|0.01071	-0.789000|-0.789000	0.03336|0.03336	GCC|GGC		0.542	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		67	107	0	0	0	1	0	67	107				
PLEKHA4	57664	broad.mit.edu	37	19	49351230	49351230	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:49351230T>C	ENST00000263265.6	-	14	2048	c.1493A>G	c.(1492-1494)cAg>cGg	p.Q498R	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.Q473R	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	498						cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGCGGTTTCTGGGGGCCACC	0.592																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(1492-1494)cAg>cGg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							36.0	37.0	36.0					19																	49351230		2203	4300	6503	SO:0001583	missense	57664					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49351230T>C	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.1493A>G	19.37:g.49351230T>C	ENSP00000263265:p.Gln498Arg					PLEKHA4_ENST00000355496.5_Missense_Mutation_p.Q473R	p.Q498R	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	14	2048	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	498					Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.1493A>G	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.035864	0.35893	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.27256	1.68;1.68	4.89	3.87	0.44632	.	0.120193	0.35466	N	0.003200	T	0.16471	0.0396	N	0.25647	0.755	0.22989	N	0.998462	P;B	0.34724	0.465;0.335	B;B	0.33454	0.164;0.079	T	0.13308	-1.0514	10	0.54805	T	0.06	.	7.7483	0.28881	0.0:0.0978:0.0:0.9022	.	473;498	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	R	498;473	ENSP00000263265:Q498R;ENSP00000347683:Q473R	ENSP00000263265:Q498R	Q	-	2	0	PLEKHA4	54043042	0.998000	0.40836	1.000000	0.80357	0.455000	0.32408	1.440000	0.35024	0.978000	0.38470	0.529000	0.55759	CAG		0.592	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			27	30	0	0	0	1	0	27	30				
LYZ	4069	broad.mit.edu	37	12	69742211	69742211	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:69742211G>C	ENST00000261267.2	+	1	91	c.23G>C	c.(22-24)gGg>gCg	p.G8A	LYZ_ENST00000549690.1_Missense_Mutation_p.G8A|LYZ_ENST00000548839.1_Missense_Mutation_p.G8A	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	8					cell wall macromolecule catabolic process (GO:0016998)|cytolysis (GO:0019835)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|lysozyme activity (GO:0003796)			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		L-Aspartic Acid(DB00128)	ATTGTTCTGGGGCTTGTCCTC	0.493																																						ENST00000261267.2																			0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(22-24)gGg>gCg		lysozyme							138.0	129.0	132.0					12																	69742211		2203	4300	6503	SO:0001583	missense	4069				cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	g.chr12:69742211G>C	X14008	CCDS8989.1	12q15	2014-09-17	2010-04-29			ENSG00000090382	3.2.1.17		6740	protein-coding gene	gene with protein product	"""renal amyloidosis"""	153450	"""lysozyme (renal amyloidosis)"""			8464497, 2546758	Standard	NM_000239		Approved		uc001suw.2	P61626	OTTHUMG00000169342	ENST00000261267.2:c.23G>C	12.37:g.69742211G>C	ENSP00000261267:p.Gly8Ala					LYZ_ENST00000549690.1_Missense_Mutation_p.G8A|LYZ_ENST00000548839.1_Missense_Mutation_p.G8A	p.G8A	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		1	91	+	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		8					P00695|Q13170|Q9UCF8	Missense_Mutation	SNP	ENST00000261267.2	37	c.23G>C	CCDS8989.1	.	.	.	.	.	.	.	.	.	.	G	2.350	-0.349035	0.05208	.	.	ENSG00000090382	ENST00000261267;ENST00000549690;ENST00000548839	T;T;T	0.68903	-0.11;-0.36;-0.36	5.72	5.72	0.89469	.	0.284575	0.34223	N	0.004142	T	0.61602	0.2360	L	0.46885	1.475	0.31153	N	0.705307	P	0.35456	0.502	B	0.34722	0.188	T	0.64537	-0.6384	9	.	.	.	.	17.3683	0.87369	0.0:0.0:1.0:0.0	.	8	P61626	LYSC_HUMAN	A	8	ENSP00000261267:G8A;ENSP00000449898:G8A;ENSP00000449969:G8A	.	G	+	2	0	LYZ	68028478	0.986000	0.35501	1.000000	0.80357	0.286000	0.27126	1.082000	0.30803	2.704000	0.92352	0.467000	0.42956	GGG		0.493	LYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403624.2	NM_000239		13	59	0	0	0	1	0	13	59				
DNAH17	8632	broad.mit.edu	37	17	76475683	76475683	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:76475683G>A	ENST00000585328.1	-	50	7893	c.7769C>T	c.(7768-7770)cCc>cTc	p.P2590L	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.P2581L	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2581	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCCTGGCCGGGGAAGCTCAC	0.602																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(7741-7743)cCc>cTc		dynein, axonemal, heavy chain 17							109.0	116.0	114.0					17																	76475683		2054	4200	6254	SO:0001583	missense	8632							g.chr17:76475683G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.7769C>T	17.37:g.76475683G>A	ENSP00000465516:p.Pro2590Leu					DNAH17_ENST00000585328.1_Missense_Mutation_p.P2590L|DNAH17_ENST00000586052.1_5'UTR	p.P2581L					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		50	7866	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.7742C>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.839867	0.91117	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.43294	0.95	4.5	4.5	0.54988	.	.	.	.	.	T	0.66066	0.2752	M	0.84773	2.715	0.80722	D	1	.	.	.	.	.	.	T	0.73646	-0.3917	7	0.87932	D	0	.	16.3213	0.82952	0.0:0.0:1.0:0.0	.	.	.	.	L	2590;2581	ENSP00000374490:P2581L	ENSP00000300671:P2590L	P	-	2	0	DNAH17	73987278	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.593000	0.82686	2.375000	0.81037	0.638000	0.83543	CCC		0.602	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		89	104	0	0	0	1	0	89	104				
ACSS3	79611	broad.mit.edu	37	12	81568634	81568634	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:81568634C>A	ENST00000548058.1	+	8	2076	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	ACSS3_ENST00000261206.3_Missense_Mutation_p.A388D|ACSS3_ENST00000548324.1_Missense_Mutation_p.A71D			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	389						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGAGTAGCTGCCTTGTTTACA	0.502																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1165-1167)gCc>gAc		acyl-CoA synthetase short-chain family member 3							133.0	109.0	117.0					12																	81568634		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81568634C>A		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1166C>A	12.37:g.81568634C>A	ENSP00000449535:p.Ala389Asp					ACSS3_ENST00000261206.3_Missense_Mutation_p.A388D|ACSS3_ENST00000548324.1_Missense_Mutation_p.A71D	p.A389D			Q9H6R3	ACSS3_HUMAN			8	2076	+			389					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1166C>A	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.638284	0.87760	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.42513	0.97;0.97;0.97	5.53	5.53	0.82687	AMP-dependent synthetase/ligase (1);	0.101073	0.64402	D	0.000002	T	0.62036	0.2395	M	0.67625	2.065	0.58432	D	0.999991	D;D	0.59357	0.985;0.976	P;P	0.59357	0.853;0.856	T	0.63576	-0.6606	10	0.72032	D	0.01	-23.032	19.8293	0.96628	0.0:1.0:0.0:0.0	.	71;389	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	D	389;388;71	ENSP00000449535:A389D;ENSP00000261206:A388D;ENSP00000448965:A71D	ENSP00000261206:A388D	A	+	2	0	ACSS3	80092765	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.289000	0.59013	2.749000	0.94314	0.655000	0.94253	GCC		0.502	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		10	40	1	0	0.000978159	1	0.00102594	10	40				
OR8H1	219469	broad.mit.edu	37	11	56058145	56058145	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:56058145G>T	ENST00000313022.2	-	1	421	c.394C>A	c.(394-396)Cca>Aca	p.P132T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATAATAACTGGGTAACGTAGA	0.443																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(394-396)Cca>Aca		olfactory receptor, family 8, subfamily H, member 1							103.0	100.0	101.0					11																	56058145		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058145G>T	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.394C>A	11.37:g.56058145G>T	ENSP00000323595:p.Pro132Thr						p.P132T	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	421	-	Esophageal squamous(21;0.00448)		132					B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.394C>A	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.507400	0.00984	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.02301	4.35	3.94	0.954	0.19595	GPCR, rhodopsin-like superfamily (1);	0.544365	0.16997	N	0.191046	T	0.00906	0.0030	N	0.10707	0.03	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47169	-0.9138	10	0.02654	T	1	.	0.7283	0.00953	0.1884:0.2761:0.2682:0.2674	.	132	Q8NGG4	OR8H1_HUMAN	T	132;128	ENSP00000323595:P132T	ENSP00000323595:P132T	P	-	1	0	OR8H1	55814721	0.000000	0.05858	0.073000	0.20177	0.001000	0.01503	-1.849000	0.01672	0.400000	0.25396	-1.162000	0.01777	CCA		0.443	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		10	109	1	0	7.13841e-38	1	1.05915e-37	10	109				
SALL3	27164	broad.mit.edu	37	18	76754127	76754127	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:76754127C>T	ENST00000537592.2	+	2	2136	c.2136C>T	c.(2134-2136)tgC>tgT	p.C712C	SALL3_ENST00000536229.3_Silent_p.C579C|SALL3_ENST00000575389.2_Silent_p.C712C	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	712					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAAGATCTGCGGCCGCGCCT	0.662																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1735-1737)tgC>tgT		spalt-like transcription factor 3							36.0	33.0	34.0					18																	76754127		2203	4299	6502	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754127C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2136C>T	18.37:g.76754127C>T						SALL3_ENST00000575389.2_Silent_p.C712C|SALL3_ENST00000537592.2_Silent_p.C712C	p.C579C			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2446	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	712					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.1737C>T	CCDS12013.1																																																																																				0.662	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		12	18	0	0	0	1	0	12	18				
FKBP9P1	360132	broad.mit.edu	37	7	55755579	55755579	+	RNA	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:55755579G>C	ENST00000455909.1	-	0	427				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						AACTTGCCCAGATCCCAGAAC	0.498																																						ENST00000455909.1																			0				endometrium(1)|kidney(1)|lung(3)	5								FK506 binding protein 9-like							148.0	141.0	143.0					7																	55755579		692	1591	2283			360132							g.chr7:55755579G>C																													7.37:g.55755579G>C								NR_027340.1|NR_027342.1						0	427	-								B2R7H1	RNA	SNP	ENST00000455909.1	37																																																																																						0.498	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2			48	39	0	0	0	1	0	48	39				
GFRAL	389400	broad.mit.edu	37	6	55223853	55223853	+	Missense_Mutation	SNP	A	A	G	rs377010138		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:55223853A>G	ENST00000340465.2	+	6	955	c.869A>G	c.(868-870)cAa>cGa	p.Q290R		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	290					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTTCAAGTGCAATGTACCTGT	0.403																																						ENST00000340465.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48						c.(868-870)cAa>cGa		GDNF family receptor alpha like		A	ARG/GLN	2,4404	4.2+/-10.8	0,2,2201	160.0	142.0	148.0		869	1.9	0.0	6		148	0,8600		0,0,4300	no	missense	GFRAL	NM_207410.2	43	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging	290/395	55223853	2,13004	2203	4300	6503	SO:0001583	missense	389400					integral to membrane	receptor activity	g.chr6:55223853A>G	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.869A>G	6.37:g.55223853A>G	ENSP00000343636:p.Gln290Arg						p.Q290R	NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		6	955	+	Lung NSC(77;0.0875)|Renal(3;0.122)		290					Q5VTF6	Missense_Mutation	SNP	ENST00000340465.2	37	c.869A>G	CCDS4957.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.448739	0.26074	4.54E-4	0.0	ENSG00000187871	ENST00000340465	T	0.63744	-0.06	5.67	1.87	0.25490	GDNF/GAS1 (2);	0.478381	0.21999	N	0.066032	T	0.31734	0.0806	L	0.56769	1.78	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.30179	-0.9987	10	0.31617	T	0.26	9.0E-4	6.5082	0.22206	0.6922:0.1685:0.1393:0.0	.	290	Q6UXV0	GFRAL_HUMAN	R	290	ENSP00000343636:Q290R	ENSP00000343636:Q290R	Q	+	2	0	GFRAL	55331812	0.387000	0.25188	0.031000	0.17742	0.785000	0.44390	1.709000	0.37909	0.061000	0.16311	0.455000	0.32223	CAA		0.403	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		42	78	0	0	0	1	0	42	78				
ASTN1	460	broad.mit.edu	37	1	176852072	176852072	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:176852072C>A	ENST00000367654.3	-	20	3520	c.3309G>T	c.(3307-3309)atG>atT	p.M1103I	ASTN1_ENST00000367657.3_Missense_Mutation_p.M1095I|ASTN1_ENST00000424564.2_Missense_Mutation_p.M1095I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M1095I	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1103	Fibronectin type-III 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCTGAGATGGCATTGCACAAG	0.488																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3307-3309)atG>atT		astrotactin 1							167.0	144.0	152.0					1																	176852072		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176852072C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3309G>T	1.37:g.176852072C>A	ENSP00000356626:p.Met1103Ile					ASTN1_ENST00000367657.3_Missense_Mutation_p.M1095I|ASTN1_ENST00000424564.2_Missense_Mutation_p.M1095I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M1095I	p.M1103I			O14525	ASTN1_HUMAN			20	3322	-			1103			Fibronectin type-III 1.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3309G>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.596617	0.86953	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.44542	1.39	0.80722	D	1	P;P	0.39044	0.656;0.656	P;P	0.51777	0.679;0.679	T	0.52102	-0.8620	10	0.62326	D	0.03	-35.7585	19.3522	0.94393	0.0:1.0:0.0:0.0	.	1095;1095	O14525-2;B1AJS1	.;.	I	1095;1095;1103;1095;1095	ENSP00000356629:M1095I;ENSP00000354536:M1095I;ENSP00000356626:M1103I;ENSP00000395041:M1095I	ENSP00000354536:M1095I	M	-	3	0	ASTN1	175118695	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.311000	0.78958	2.672000	0.90937	0.467000	0.42956	ATG		0.488	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		15	79	1	0	0.000422831	1	0.000444765	15	79				
RELN	5649	broad.mit.edu	37	7	103243844	103243844	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:103243844C>T	ENST00000428762.1	-	24	3399	c.3240G>A	c.(3238-3240)gaG>gaA	p.E1080E	RELN_ENST00000343529.5_Silent_p.E1080E|RELN_ENST00000424685.2_Silent_p.E1080E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1080					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCAGTCAGACTCCCAGCCAT	0.483																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3238-3240)gaG>gaA		reelin							113.0	107.0	109.0					7																	103243844		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103243844C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3240G>A	7.37:g.103243844C>T						RELN_ENST00000343529.5_Silent_p.E1080E|RELN_ENST00000428762.1_Silent_p.E1080E	p.E1080E			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	24	3399	-			1080					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.3240G>A	CCDS47680.1																																																																																				0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		43	71	0	0	0	1	0	43	71				
MAST1	22983	broad.mit.edu	37	19	12958691	12958691	+	Silent	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:12958691C>G	ENST00000251472.4	+	7	633	c.594C>G	c.(592-594)cgC>cgG	p.R198R	MAST1_ENST00000591495.1_Silent_p.R194R	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AGAAGCTGCGCGACTTTACCC	0.701											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(592-594)cgC>cgG		microtubule associated serine/threonine kinase 1							35.0	31.0	33.0					19																	12958691		2203	4299	6502	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12958691C>G	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.594C>G	19.37:g.12958691C>G			OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	MAST1_ENST00000591495.1_Silent_p.R194R	p.R198R	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			7	633	+			198						Silent	SNP	ENST00000251472.4	37	c.594C>G	CCDS32921.1																																																																																				0.701	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		7	8	0	0	0	1	0	7	8				
LRFN1	57622	broad.mit.edu	37	19	39805043	39805043	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:39805043C>A	ENST00000248668.4	-	1	933	c.934G>T	c.(934-936)Gtg>Ttg	p.V312L	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	312	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGCCTTCCACCACCAGGGCC	0.706																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(934-936)Gtg>Ttg		leucine rich repeat and fibronectin type III domain containing 1							11.0	14.0	13.0					19																	39805043		2084	4197	6281	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805043C>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.934G>T	19.37:g.39805043C>A	ENSP00000248668:p.Val312Leu						p.V312L	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	933	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		312			Ig-like.		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.934G>T	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	2.536	-0.307321	0.05458	.	.	ENSG00000128011	ENST00000248668	T	0.66280	-0.2	4.53	4.53	0.55603	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.40469	N	0.001100	T	0.37625	0.1010	N	0.17564	0.495	0.36772	D	0.883856	B	0.14012	0.009	B	0.15052	0.012	T	0.34477	-0.9827	10	0.02654	T	1	.	8.3951	0.32553	0.0:0.895:0.0:0.105	.	312	Q9P244	LRFN1_HUMAN	L	312	ENSP00000248668:V312L	ENSP00000248668:V312L	V	-	1	0	LRFN1	44496883	0.966000	0.33281	1.000000	0.80357	0.998000	0.95712	1.223000	0.32527	2.352000	0.79861	0.655000	0.94253	GTG		0.706	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		7	12	1	0	0.00198382	1	0.00204836	7	12				
PRSS55	203074	broad.mit.edu	37	8	10388887	10388887	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:10388887C>G	ENST00000328655.3	+	3	470	c.430C>G	c.(430-432)Ctt>Gtt	p.L144V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.L144V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CAGCATCATTCTTCACAAAGA	0.517																																						ENST00000328655.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						c.(430-432)Ctt>Gtt		protease, serine, 55							185.0	168.0	174.0					8																	10388887		2203	4300	6503	SO:0001583	missense	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10388887C>G	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.430C>G	8.37:g.10388887C>G	ENSP00000333003:p.Leu144Val					PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.L144V	p.L144V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN			3	470	+			144			Peptidase S1.		E5RJX5	Missense_Mutation	SNP	ENST00000328655.3	37	c.430C>G	CCDS5976.1	.	.	.	.	.	.	.	.	.	.	C	5.357	0.251200	0.10130	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.92249	-3.0;-3.0	4.48	-7.61	0.01299	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.309360	0.02565	N	0.097131	T	0.76321	0.3971	N	0.03194	-0.395	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.71852	-0.4467	10	0.12766	T	0.61	.	5.3886	0.16231	0.5346:0.1637:0.0:0.3016	.	144	Q6UWB4	PRS55_HUMAN	V	144	ENSP00000333003:L144V;ENSP00000430459:L144V	ENSP00000333003:L144V	L	+	1	0	PRSS55	10426297	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.853000	0.04303	-1.526000	0.01760	-2.051000	0.00406	CTT		0.517	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		6	290	0	0	0	1	0	6	290				
R3HDM1	23518	broad.mit.edu	37	2	136399236	136399236	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:136399236T>A	ENST00000264160.4	+	15	1720	c.1350T>A	c.(1348-1350)caT>caA	p.H450Q	R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000410054.1_Missense_Mutation_p.H394Q|R3HDM1_ENST00000409606.1_Missense_Mutation_p.H450Q	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	450							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TCAGCACTCATAGTTCTCTTT	0.522																																						ENST00000264160.4																			0				breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38						c.(1348-1350)caT>caA		R3H domain containing 1							201.0	180.0	187.0					2																	136399236		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136399236T>A	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1350T>A	2.37:g.136399236T>A	ENSP00000264160:p.His450Gln					R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000410054.1_Missense_Mutation_p.H394Q|R3HDM1_ENST00000409606.1_Missense_Mutation_p.H450Q|R3HDM1_ENST00000409478.1_Intron	p.H450Q	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	15	1720	+			450					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.1350T>A	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.67|13.67	2.305372|2.305372	0.40795|0.40795	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000264160;ENST00000410054;ENST00000409606|ENST00000429703	T;T;T|.	0.30714|.	1.52;1.52;1.52|.	5.91|5.91	4.76|4.76	0.60689|0.60689	.|.	0.226777|.	0.52532|.	D|.	0.000073|.	T|.	0.35008|.	0.0917|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.28128|.	0.057;0.201;0.201|.	B;B;B|.	0.20767|.	0.031;0.031;0.031|.	T|.	0.14896|.	-1.0456|.	10|.	0.17832|.	T|.	0.49|.	-13.7216|-13.7216	11.1743|11.1743	0.48590|0.48590	0.0:0.0722:0.0:0.9278|0.0:0.0722:0.0:0.9278	.|.	450;394;450|.	E9PBB4;E9PG42;Q15032|.	.;.;R3HD1_HUMAN|.	Q|K	450;394;450|139	ENSP00000264160:H450Q;ENSP00000386877:H394Q;ENSP00000387010:H450Q|.	ENSP00000264160:H450Q|.	H|X	+|+	3|1	2|0	R3HDM1|R3HDM1	136115706|136115706	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.486000|1.486000	0.35530|0.35530	1.072000|1.072000	0.40860|0.40860	0.533000|0.533000	0.62120|0.62120	CAT|TAG		0.522	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		52	103	0	0	0	1	0	52	103				
GRAMD1B	57476	broad.mit.edu	37	11	123477329	123477329	+	Missense_Mutation	SNP	C	C	A	rs373808855		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:123477329C>A	ENST00000529750.1	+	10	1234	c.907C>A	c.(907-909)Ccc>Acc	p.P303T	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.P303T|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.P310T|GRAMD1B_ENST00000450171.2_5'Flank	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	303						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGATGGGCTGCCCCTGGAGGA	0.562																																						ENST00000529750.1																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(907-909)Ccc>Acc		GRAM domain containing 1B							27.0	29.0	29.0					11																	123477329		1944	4124	6068	SO:0001583	missense	57476					integral to membrane		g.chr11:123477329C>A	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.907C>A	11.37:g.123477329C>A	ENSP00000436500:p.Pro303Thr					GRAMD1B_ENST00000322282.7_Missense_Mutation_p.P303T|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.P310T	p.P303T	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	10	1234	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	303					Q6UW85|Q9ULL9	Missense_Mutation	SNP	ENST00000529750.1	37	c.907C>A	CCDS53720.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089460	0.36855	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	T;T;T;T;T	0.33438	1.81;1.8;1.8;1.81;1.41	5.25	4.32	0.51571	.	0.339199	0.28382	N	0.015553	T	0.26738	0.0654	L	0.43152	1.355	0.39007	D	0.959478	B;B;B;B	0.27416	0.001;0.178;0.1;0.097	B;B;B;B	0.28991	0.001;0.053;0.036;0.097	T	0.06698	-1.0812	10	0.19147	T	0.46	.	13.4552	0.61195	0.0:0.7007:0.2993:0.0	.	263;310;303;310	B7Z4N9;F5H572;Q3KR37;E7EPH8	.;.;GRM1B_HUMAN;.	T	310;310;303;303;263;299	ENSP00000402457:P310T;ENSP00000325628:P303T;ENSP00000436500:P303T;ENSP00000432987:P263T;ENSP00000434214:P299T	ENSP00000325628:P303T	P	+	1	0	GRAMD1B	122982539	1.000000	0.71417	0.991000	0.47740	0.854000	0.48673	2.921000	0.48852	1.159000	0.42565	0.462000	0.41574	CCC		0.562	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		9	10	1	0	0.00448238	1	0.00458925	9	10				
LRP1B	53353	broad.mit.edu	37	2	141267547	141267547	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:141267547C>A	ENST00000389484.3	-	52	9319	c.8348G>T	c.(8347-8349)gGt>gTt	p.G2783V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2783	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCCTTTCACCATCACAAAG	0.532										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8347-8349)gGt>gTt		low density lipoprotein receptor-related protein 1B							144.0	128.0	133.0					2																	141267547		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141267547C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8348G>T	2.37:g.141267547C>A	ENSP00000374135:p.Gly2783Val	TSP Lung(27;0.18)					p.G2783V	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	52	9319	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2783			LDL-receptor class A 17.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8348G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	34	5.359690	0.95854	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.58797	0.31	5.96	5.96	0.96718	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86685	0.1919	10	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	2783	Q9NZR2	LRP1B_HUMAN	V	2783;2721	ENSP00000374135:G2783V	ENSP00000374135:G2783V	G	-	2	0	LRP1B	140984017	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.399000	0.79935	2.832000	0.97577	0.655000	0.94253	GGT		0.532	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		32	100	1	0	4.90274e-10	1	5.67195e-10	32	100				
KRTAP4-2	85291	broad.mit.edu	37	17	39334160	39334160	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:39334160A>C	ENST00000377726.2	-	1	300	c.257T>G	c.(256-258)tTc>tGc	p.F86C		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	86	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CTGGGGTCTGAAGCAGCTGGA	0.672																																						ENST00000377726.2																			0				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(256-258)tTc>tGc		keratin associated protein 4-2							44.0	53.0	50.0					17																	39334160		2203	4296	6499	SO:0001583	missense	85291					keratin filament		g.chr17:39334160A>C	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.257T>G	17.37:g.39334160A>C	ENSP00000366955:p.Phe86Cys						p.F86C	NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	300	-		Breast(137;0.000496)	86			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.257T>G	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.741475	0.00675	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.00730	5.77	3.91	0.512	0.16994	.	.	.	.	.	T	0.00109	0.0003	N	0.00000	-4.325	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48490	-0.9031	9	0.02654	T	1	.	7.4653	0.27318	0.473:0.3739:0.1531:0.0	.	86	Q9BYR5	KRA42_HUMAN	C	86;203	ENSP00000366955:F86C	ENSP00000366955:F86C	F	-	2	0	KRTAP4-2	36587686	0.996000	0.38824	0.017000	0.16124	0.073000	0.16967	1.625000	0.37029	0.030000	0.15379	-0.290000	0.09829	TTC		0.672	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			22	104	0	0	0	1	0	22	104				
LRP1B	53353	broad.mit.edu	37	2	141771282	141771282	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:141771282A>G	ENST00000389484.3	-	14	3194	c.2223T>C	c.(2221-2223)ccT>ccC	p.P741P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	741					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGTCCGAAAGGGTGGTTCA	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2221-2223)ccT>ccC		low density lipoprotein receptor-related protein 1B							106.0	104.0	105.0					2																	141771282		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141771282A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2223T>C	2.37:g.141771282A>G		TSP Lung(27;0.18)					p.P741P	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	14	3194	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	741					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.2223T>C	CCDS2182.1																																																																																				0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		26	49	0	0	0	1	0	26	49				
TTN	7273	broad.mit.edu	37	2	179437569	179437569	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:179437569C>T	ENST00000591111.1	-	276	68591	c.68367G>A	c.(68365-68367)ctG>ctA	p.L22789L	TTN_ENST00000460472.2_Silent_p.L15365L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.L21862L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.L15557L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.L24430L|TTN_ENST00000359218.5_Silent_p.L15490L			Q8WZ42	TITIN_HUMAN	titin	22789	Ig-like 117.				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)			GGTCAGCATCCAGTTCAATTT	0.522																																						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.(73288-73290)ctG>ctA		titin							90.0	91.0	90.0					2																	179437569		1944	4153	6097	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437569C>T	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.68367G>A	2.37:g.179437569C>T						TTN_ENST00000591111.1_Silent_p.L22789L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.L15365L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.L21862L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L15557L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L15490L	p.L24430L	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)		326	73514	-			22789			Fibronectin type-III 77.		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.73290G>A																																																																																					0.522	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		25	53	0	0	0	1	0	25	53				
OR2T10	127069	broad.mit.edu	37	1	248757051	248757051	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:248757051T>A	ENST00000330500.2	-	1	49	c.19A>T	c.(19-21)Acc>Tcc	p.T7S	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACCCAGGGTCTGGTTGGCC	0.463																																						ENST00000330500.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26						c.(19-21)Acc>Tcc		olfactory receptor, family 2, subfamily T, member 10							20.0	22.0	22.0					1																	248757051		2022	4202	6224	SO:0001583	missense	127069				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248757051T>A		CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.19A>T	1.37:g.248757051T>A	ENSP00000329210:p.Thr7Ser						p.T7S	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	49	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		7					B2RNK7	Missense_Mutation	SNP	ENST00000330500.2	37	c.19A>T	CCDS31121.1	.	.	.	.	.	.	.	.	.	.	.	9.630	1.136061	0.21123	.	.	ENSG00000184022	ENST00000330500	T	0.36878	1.23	2.34	1.18	0.20946	.	.	.	.	.	T	0.16599	0.0399	N	0.12443	0.215	0.09310	N	1	P	0.35307	0.494	B	0.34138	0.176	T	0.14309	-1.0477	9	0.30854	T	0.27	.	2.5971	0.04856	0.2293:0.1444:0.0:0.6263	.	7	Q8NGZ9	O2T10_HUMAN	S	7	ENSP00000329210:T7S	ENSP00000329210:T7S	T	-	1	0	OR2T10	246823674	0.002000	0.14202	0.002000	0.10522	0.106000	0.19336	-0.005000	0.12855	0.063000	0.16370	0.362000	0.22060	ACC		0.463	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097139.1	NM_001004693		39	25	0	0	0	1	0	39	25				
LRRTM1	347730	broad.mit.edu	37	2	80530257	80530257	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:80530257G>T	ENST00000295057.3	-	2	1344	c.688C>A	c.(688-690)Ccg>Acg	p.P230T	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P230T|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	230					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ATGAGGCGCGGGAAGTGGGCG	0.582										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(688-690)Ccg>Acg		leucine rich repeat transmembrane neuronal 1							109.0	105.0	107.0					2																	80530257		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530257G>T	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.688C>A	2.37:g.80530257G>T	ENSP00000295057:p.Pro230Thr	HNSCC(69;0.2)				CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P230T	p.P230T	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1344	-			230					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.688C>A	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725179	0.68959	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.79247	-1.25;-1.25	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	D	0.85605	0.5735	M	0.67397	2.05	0.80722	D	1	D	0.65815	0.995	P	0.60117	0.869	D	0.85251	0.1044	9	.	.	.	.	18.8459	0.92205	0.0:0.0:1.0:0.0	.	230	Q86UE6	LRRT1_HUMAN	T	230	ENSP00000295057:P230T;ENSP00000386646:P230T	.	P	-	1	0	LRRTM1	80383768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.016000	0.88706	2.416000	0.81992	0.655000	0.94253	CCG		0.582	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		56	151	1	0	5.47352e-35	1	8.05579e-35	56	151				
ACTL7B	10880	broad.mit.edu	37	9	111618175	111618175	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:111618175C>T	ENST00000374667.3	-	1	1064	c.36G>A	c.(34-36)acG>acA	p.T12T		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	12						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACCCTGAGCCGTGCCCAGGG	0.657																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(34-36)acG>acA		actin-like 7B							55.0	57.0	57.0					9																	111618175		2203	4300	6503	SO:0001819	synonymous_variant	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111618175C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.36G>A	9.37:g.111618175C>T							p.T12T	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1064	-			12					B2R9Q2|Q5JSV1	Silent	SNP	ENST00000374667.3	37	c.36G>A	CCDS6771.1																																																																																				0.657	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		3	49	0	0	0	1	0	3	49				
SPTAN1	6709	broad.mit.edu	37	9	131351145	131351145	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:131351145G>T	ENST00000372731.4	+	21	3039	c.2929G>T	c.(2929-2931)Gac>Tac	p.D977Y	SPTAN1_ENST00000358161.5_Missense_Mutation_p.D977Y|SPTAN1_ENST00000372739.3_Missense_Mutation_p.D977Y	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	977	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGCTCTCTACGACTATCAGGA	0.512																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(2929-2931)Gac>Tac		spectrin, alpha, non-erythrocytic 1							137.0	114.0	122.0					9																	131351145		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131351145G>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2929G>T	9.37:g.131351145G>T	ENSP00000361816:p.Asp977Tyr					SPTAN1_ENST00000372731.4_Missense_Mutation_p.D977Y|SPTAN1_ENST00000358161.5_Missense_Mutation_p.D977Y	p.D977Y	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			21	3039	+			977			SH3.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.2929G>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622579	0.87460	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.67698	-0.28;-0.28;-0.28	5.51	5.51	0.81932	Src homology-3 domain (5);Spectrin alpha chain, SH3 domain (1);	0.000000	0.85682	D	0.000000	D	0.88485	0.6449	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.998;0.999	D	0.92120	0.5703	10	0.87932	D	0	.	18.3985	0.90507	0.0:0.0:1.0:0.0	.	977;977;977;977;977	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	Y	977	ENSP00000350882:D977Y;ENSP00000361816:D977Y;ENSP00000361824:D977Y	ENSP00000350882:D977Y	D	+	1	0	SPTAN1	130390966	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.160000	0.94734	2.583000	0.87209	0.655000	0.94253	GAC		0.512	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		34	25	1	0	9.17885e-22	1	1.26188e-21	34	25				
SKI	6497	broad.mit.edu	37	1	2235418	2235418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:2235418C>T	ENST00000378536.4	+	4	1423	c.1351C>T	c.(1351-1353)Cag>Tag	p.Q451*		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	451					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CACTTGCACCCAGCCTCGGAA	0.716																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(1351-1353)Cag>Tag		v-ski avian sarcoma viral oncogene homolog							18.0	21.0	20.0					1																	2235418		2196	4293	6489	SO:0001587	stop_gained	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2235418C>T	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1351C>T	1.37:g.2235418C>T	ENSP00000367797:p.Gln451*						p.Q451*	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	4	1423	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		451					Q5SYT7	Nonsense_Mutation	SNP	ENST00000378536.4	37	c.1351C>T	CCDS39.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922741	0.73213	.	.	ENSG00000157933	ENST00000378536	.	.	.	4.08	3.17	0.36434	.	0.377447	0.29021	N	0.013393	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.626	11.1092	0.48221	0.0:0.9088:0.0:0.0912	.	.	.	.	X	451	.	ENSP00000367797:Q451X	Q	+	1	0	SKI	2225278	0.840000	0.29493	0.976000	0.42696	0.316000	0.28119	1.509000	0.35780	1.062000	0.40625	0.561000	0.74099	CAG		0.716	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		6	13	0	0	0	1	0	6	13				
C19orf54	284325	broad.mit.edu	37	19	41248439	41248439	+	Missense_Mutation	SNP	G	G	A	rs184492176		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:41248439G>A	ENST00000378313.2	-	6	1074	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000598729.1_Missense_Mutation_p.R147W	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	319										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAGTGGCCCGTGAGGGCGAG	0.647																																						ENST00000378313.2																			0				breast(1)|lung(1)|urinary_tract(2)	4						c.(955-957)Cgg>Tgg		chromosome 19 open reading frame 54							36.0	32.0	34.0					19																	41248439		2202	4300	6502	SO:0001583	missense	284325							g.chr19:41248439G>A	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.955C>T	19.37:g.41248439G>A	ENSP00000367564:p.Arg319Trp					C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Intron|C19orf54_ENST00000598729.1_Missense_Mutation_p.R147W	p.R319W	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	1074	-			319					A8MSZ5|B4DNU7	Missense_Mutation	SNP	ENST00000378313.2	37	c.955C>T	CCDS12564.2	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303818	0.40795	.	.	ENSG00000188493	ENST00000378313	.	.	.	5.48	-3.59	0.04583	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84778	0.0771	9	0.87932	D	0	-33.0076	19.5169	0.95169	0.0:0.0:0.1966:0.8034	.	147;319	Q5BKX5-3;Q5BKX5	.;CS054_HUMAN	W	319	.	ENSP00000367564:R319W	R	-	1	2	C19orf54	45940279	0.014000	0.17966	0.032000	0.17829	0.011000	0.07611	0.005000	0.13129	-0.317000	0.08677	-0.261000	0.10672	CGG		0.647	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		7	12	0	0	0	1	0	7	12				
SNHG14	104472715	broad.mit.edu	37	15	25336852	25336852	+	RNA	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:25336852T>G	ENST00000546682.1	+	0	955				SNHG14_ENST00000553108.1_RNA|SNORD116-23_ENST00000384645.1_RNA|SNORD116-24_ENST00000384549.1_RNA|SNORD116-20_ENST00000384507.1_lincRNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTTGGGTGCTGGTGGATCCC	0.502																																						ENST00000546682.1																			0																																																			104472715							g.chr15:25336852T>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25336852T>G						SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA		NR_003361.1						0	955	+									RNA	SNP	ENST00000546682.1	37																																																																																						0.502	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			23	50	0	0	0	1	0	23	50				
TENM1	10178	broad.mit.edu	37	X	123779052	123779052	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:123779052G>A	ENST00000371130.3	-	10	1880	c.1817C>T	c.(1816-1818)aCc>aTc	p.T606I	TENM1_ENST00000422452.2_Missense_Mutation_p.T606I	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	606	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CATGATGCAGGTGCCGTGGCC	0.498																																						ENST00000422452.2																			0											c.(1816-1818)aCc>aTc		teneurin transmembrane protein 1							206.0	178.0	187.0					X																	123779052		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123779052G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1817C>T	X.37:g.123779052G>A	ENSP00000360171:p.Thr606Ile					TENM1_ENST00000371130.3_Missense_Mutation_p.T606I	p.T606I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					10	1880	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1817C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.747867	0.30955	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.01821	4.62;4.62	5.32	5.32	0.75619	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.325026	0.30620	N	0.009240	T	0.01730	0.0055	N	0.13003	0.285	0.41861	D	0.990223	B;B;B	0.27559	0.181;0.09;0.001	B;B;B	0.24006	0.05;0.034;0.003	T	0.67003	-0.5780	10	0.27082	T	0.32	.	18.0549	0.89361	0.0:0.0:1.0:0.0	.	605;606;606	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	I	606	ENSP00000360171:T606I;ENSP00000403954:T606I	ENSP00000360171:T606I	T	-	2	0	ODZ1	123606733	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.430000	0.59907	2.199000	0.70637	0.600000	0.82982	ACC		0.498	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		130	45	0	0	0	1	0	130	45				
SSPO	23145	broad.mit.edu	37	7	149524900	149524900	+	RNA	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:149524900G>C	ENST00000378016.2	+	0	14811							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)			CCCCGGGGGAGCTGGGGCTCT	0.652																																						ENST00000378016.2																			0													SCO-spondin							28.0	37.0	34.0					7																	149524900		2076	4188	6264			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149524900G>C	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.149524900G>C										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	14811	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.652	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				15	26	0	0	0	1	0	15	26				
F5	2153	broad.mit.edu	37	1	169500098	169500098	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:169500098C>T	ENST00000367797.3	-	15	5335	c.5134G>A	c.(5134-5136)Gcc>Acc	p.A1712T	F5_ENST00000367796.3_Missense_Mutation_p.A1717T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1712	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CGCTCAGTGGCATGCCATACG	0.458																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(5149-5151)Gcc>Acc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						145.0	138.0	140.0					1																	169500098		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169500098C>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.5134G>A	1.37:g.169500098C>T	ENSP00000356771:p.Ala1712Thr					F5_ENST00000367797.3_Missense_Mutation_p.A1712T	p.A1717T			P12259	FA5_HUMAN			15	5350	-	all_hematologic(923;0.208)		1712			F5/8 type A 3.|Plastocyanin-like 5.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.5149G>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906351	0.72868	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98567	-5.0;-5.0	5.49	5.49	0.81192	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.293492	0.38959	N	0.001518	D	0.98324	0.9444	L	0.52126	1.63	0.30622	N	0.758431	D	0.60160	0.987	D	0.67103	0.949	D	0.99170	1.0864	9	0.56958	D	0.05	-11.0357	19.3886	0.94570	0.0:1.0:0.0:0.0	.	1712	P12259	FA5_HUMAN	T	1712;1717	ENSP00000356771:A1712T;ENSP00000356770:A1717T	ENSP00000356770:A1717T	A	-	1	0	F5	167766722	1.000000	0.71417	0.999000	0.59377	0.450000	0.32258	4.563000	0.60823	2.586000	0.87340	0.655000	0.94253	GCC		0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		94	81	0	0	0	1	0	94	81				
KLHL1	57626	broad.mit.edu	37	13	70549771	70549771	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:70549771G>C	ENST00000377844.4	-	2	1420	c.661C>G	c.(661-663)Cga>Gga	p.R221G	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	221	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GGTATCTTTCGGTTCCCAACA	0.403																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(661-663)Cga>Gga		kelch-like family member 1							161.0	147.0	152.0					13																	70549771		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70549771G>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.661C>G	13.37:g.70549771G>C	ENSP00000367075:p.Arg221Gly					KLHL1_ENST00000545028.1_Intron	p.R221G	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	2	1420	-		Breast(118;0.000162)	221			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.661C>G	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.558840	0.65538	.	.	ENSG00000150361	ENST00000377844	T	0.68181	-0.31	5.98	2.03	0.26663	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.300684	0.28742	N	0.014292	T	0.78929	0.4361	M	0.75447	2.3	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.75169	-0.3412	10	0.23891	T	0.37	.	15.551	0.76152	0.0:0.0:0.4971:0.5029	.	221	Q9NR64	KLHL1_HUMAN	G	221	ENSP00000367075:R221G	ENSP00000367075:R221G	R	-	1	2	KLHL1	69447772	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	4.191000	0.58372	0.050000	0.15949	-0.282000	0.10007	CGA		0.403	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		45	93	0	0	0	1	0	45	93				
FCGR3A	2214	broad.mit.edu	37	1	161518319	161518319	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:161518319C>T	ENST00000436743.1	-	4	365	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	FCGR3A_ENST00000443193.1_Missense_Mutation_p.A106T|FCGR3A_ENST00000540048.1_Missense_Mutation_p.A71T|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000367969.3_Missense_Mutation_p.A107T	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	71	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TAGCTCGAGGCCTGGCTTGAG	0.557																																						ENST00000367969.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(319-321)Gcc>Acc		Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						307.0	294.0	298.0					1																	161518319		2203	4300	6503	SO:0001583	missense	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518319C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.211G>A	1.37:g.161518319C>T	ENSP00000416607:p.Ala71Thr					FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000436743.1_Missense_Mutation_p.A71T|FCGR3A_ENST00000443193.1_Missense_Mutation_p.A106T|FCGR3A_ENST00000540048.1_Missense_Mutation_p.A71T	p.A107T	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	502	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		71			Ig-like C2-type 2.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.319G>A	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	C	0.175	-1.067905	0.01934	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048;ENST00000442336	T;T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18;3.18	4.43	-7.91	0.01165	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.936460	0.03028	N	0.151723	T	0.00552	0.0018	N	0.02315	-0.6	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.36089	-0.9762	10	0.02654	T	1	.	6.8499	0.24008	0.2045:0.255:0.0:0.5405	.	71;106;71	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	T	107;106;71;71;71;70	ENSP00000356946:A107T;ENSP00000392047:A106T;ENSP00000416607:A71T;ENSP00000356944:A71T;ENSP00000444971:A71T;ENSP00000396567:A70T	ENSP00000356944:A71T	A	-	1	0	FCGR3A	159784943	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.662000	0.00850	-2.170000	0.00776	-1.094000	0.02160	GCC		0.557	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		74	542	0	0	0	1	0	74	542				
IGLV8-61	28774	broad.mit.edu	37	22	22453565	22453565	+	RNA	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:22453565C>T	ENST00000390283.2	+	0	357									immunoglobulin lambda variable 8-61																		ATCACGGGGGCCCAGGCAGAT	0.498																																						ENST00000390283.2																			0																				109.0	113.0	112.0					22																	22453565		1961	4157	6118			28774							g.chr22:22453565C>T	Z73650		22q11.2	2012-02-08			ENSG00000211638	ENSG00000211638		"""Immunoglobulins / IGL locus"""	5931	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150844		22.37:g.22453565C>T														0	357	+									RNA	SNP	ENST00000390283.2	37																																																																																						0.498	IGLV8-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320321.1	NG_000002		35	76	0	0	0	1	0	35	76				
CYP4F12	66002	broad.mit.edu	37	19	15789122	15789122	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:15789122T>C	ENST00000550308.1	+	3	630	c.250T>C	c.(250-252)Tat>Cat	p.Y84H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.Y84H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	84					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GTCGGCCACCTATTCCCAGGG	0.512																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(250-252)Tat>Cat		cytochrome P450, family 4, subfamily F, polypeptide 12							143.0	144.0	144.0					19																	15789122		2170	4276	6446	SO:0001583	missense	66002							g.chr19:15789122T>C	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.250T>C	19.37:g.15789122T>C	ENSP00000448998:p.Tyr84His					CYP4F12_ENST00000324632.9_Missense_Mutation_p.Y84H	p.Y84H	NM_023944.3	NP_076433.3					3	630	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.250T>C	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.332020	0.24167	.	.	ENSG00000186204	ENST00000550308;ENST00000551607;ENST00000324632	D;D;D	0.95885	-3.84;-3.84;-3.84	2.7	2.7	0.31948	.	0.441160	0.20017	U	0.100997	D	0.93406	0.7897	L	0.55017	1.72	0.09310	N	1	B;B;B	0.32101	0.356;0.128;0.027	B;B;B	0.40602	0.334;0.179;0.078	D	0.87879	0.2676	10	0.51188	T	0.08	.	7.1265	0.25475	0.0:0.0:0.0:1.0	.	84;84;84	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	H	84;37;84	ENSP00000448998:Y84H;ENSP00000447922:Y37H;ENSP00000321821:Y84H	ENSP00000321821:Y84H	Y	+	1	0	CYP4F12	15650122	0.002000	0.14202	0.102000	0.21198	0.031000	0.12232	1.076000	0.30729	1.232000	0.43678	0.402000	0.26972	TAT		0.512	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			60	142	0	0	0	1	0	60	142				
BRINP1	1620	broad.mit.edu	37	9	121930047	121930047	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:121930047C>A	ENST00000265922.3	-	8	2062	c.1601G>T	c.(1600-1602)cGc>cTc	p.R534L	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	534					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.R534H(1)									GAAGTCCATGCGGTTCTTGTT	0.552																																						ENST00000265922.3																			1	Substitution - Missense(1)	p.R534H(1)	breast(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(1600-1602)cGc>cTc									119.0	93.0	102.0					9																	121930047		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121930047C>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1601G>T	9.37:g.121930047C>A	ENSP00000265922:p.Arg534Leu					DBC1_ENST00000482797.1_Intron	p.R534L	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2062	-			534					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.1601G>T	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425456	0.83667	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.15017	2.46	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	L	0.36672	1.1	0.80722	D	1	D	0.60160	0.987	D	0.65010	0.931	T	0.01814	-1.1268	10	0.72032	D	0.01	-22.2179	19.91	0.97023	0.0:1.0:0.0:0.0	.	534	O60477	DBC1_HUMAN	L	534	ENSP00000265922:R534L	ENSP00000265922:R534L	R	-	2	0	DBC1	120969868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.896000	0.63222	2.702000	0.92279	0.655000	0.94253	CGC		0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		21	36	1	0	1.96292e-10	1	2.30375e-10	21	36				
NCAM2	4685	broad.mit.edu	37	21	22746196	22746196	+	Missense_Mutation	SNP	G	G	T	rs372471672		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr21:22746196G>T	ENST00000400546.1	+	9	1307	c.1058G>T	c.(1057-1059)cGt>cTt	p.R353L	NCAM2_ENST00000535285.1_Missense_Mutation_p.R378L|NCAM2_ENST00000284894.7_Missense_Mutation_p.R211L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	353	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R353L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CTGGACGGCCGTATCGAAGTC	0.408																																						ENST00000400546.1																			1	Substitution - Missense(1)	p.R353L(1)	large_intestine(1)	breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(1057-1059)cGt>cTt		neural cell adhesion molecule 2							125.0	117.0	119.0					21																	22746196		1914	4115	6029	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22746196G>T		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.1058G>T	21.37:g.22746196G>T	ENSP00000383392:p.Arg353Leu					NCAM2_ENST00000284894.7_Missense_Mutation_p.R211L|NCAM2_ENST00000535285.1_Missense_Mutation_p.R378L	p.R353L	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	9	1307	+		Lung NSC(9;0.195)	353			Ig-like C2-type 4.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.1058G>T	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597424	0.87055	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.46451	1.04;1.04;0.87	5.54	4.47	0.54385	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.045299	0.85682	D	0.000000	T	0.66915	0.2838	M	0.86420	2.815	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.993	D;P;P	0.68621	0.959;0.884;0.884	T	0.73020	-0.4114	10	0.72032	D	0.01	-12.4672	14.0714	0.64863	0.087:0.0:0.913:0.0	.	378;211;353	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	L	353;211;378	ENSP00000383392:R353L;ENSP00000284894:R211L;ENSP00000441887:R378L	ENSP00000284894:R211L	R	+	2	0	NCAM2	21668067	1.000000	0.71417	0.974000	0.42286	0.969000	0.65631	7.360000	0.79487	2.618000	0.88619	0.644000	0.83932	CGT		0.408	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		37	58	1	0	3.61848e-18	1	4.79399e-18	37	58				
KCNH8	131096	broad.mit.edu	37	3	19575380	19575380	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:19575380C>T	ENST00000328405.2	+	16	3379	c.3113C>T	c.(3112-3114)tCg>tTg	p.S1038L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1038	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCTCCTCTTCGGAAACATCT	0.468																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(3112-3114)tCg>tTg		potassium voltage-gated channel, subfamily H (eag-related), member 8							145.0	140.0	142.0					3																	19575380		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19575380C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3113C>T	3.37:g.19575380C>T	ENSP00000328813:p.Ser1038Leu						p.S1038L	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			16	3379	+			1038			Ser-rich.		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.3113C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209570	0.58343	.	.	ENSG00000183960	ENST00000328405	D	0.99136	-5.47	5.5	5.5	0.81552	.	0.000000	0.28279	U	0.015928	D	0.98943	0.9641	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.99840	1.1061	9	.	.	.	.	19.3841	0.94550	0.0:1.0:0.0:0.0	.	1038	Q96L42	KCNH8_HUMAN	L	1038	ENSP00000328813:S1038L	.	S	+	2	0	KCNH8	19550384	0.994000	0.37717	0.759000	0.31340	0.366000	0.29705	5.677000	0.68142	2.590000	0.87494	0.655000	0.94253	TCG		0.468	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		71	48	0	0	0	1	0	71	48				
ADAMTS12	81792	broad.mit.edu	37	5	33576355	33576355	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:33576355G>T	ENST00000504830.1	-	19	4111	c.3776C>A	c.(3775-3777)cCc>cAc	p.P1259H	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1174H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1259	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTTCCTGAGGGTTCTGGCTG	0.512										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3775-3777)cCc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 12							180.0	180.0	180.0					5																	33576355		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576355G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3776C>A	5.37:g.33576355G>T	ENSP00000422554:p.Pro1259His	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P1174H	p.P1259H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	4111	-			1259			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3776C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	2.563	-0.301310	0.05495	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59502	0.27;0.26	5.04	1.16	0.20824	.	1.801940	0.02580	N	0.098748	T	0.41419	0.1158	N	0.24115	0.695	0.09310	N	1	B;B	0.32467	0.372;0.255	B;B	0.34346	0.18;0.088	T	0.20472	-1.0274	10	0.14252	T	0.57	.	3.6413	0.08168	0.382:0.0:0.437:0.181	.	1174;1259	P58397-3;P58397	.;ATS12_HUMAN	H	1259;1174	ENSP00000422554:P1259H;ENSP00000344847:P1174H	ENSP00000344847:P1174H	P	-	2	0	ADAMTS12	33612112	0.000000	0.05858	0.007000	0.13788	0.079000	0.17450	0.236000	0.17967	0.291000	0.22468	0.655000	0.94253	CCC		0.512	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		35	299	1	0	1.04352e-10	1	1.23865e-10	35	299				
EVX2	344191	broad.mit.edu	37	2	176946954	176946954	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:176946954G>A	ENST00000308618.4	-	2	787	c.651C>T	c.(649-651)cgC>cgT	p.R217R		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	217					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCTCGCACCGGCGGGGCCGCG	0.657																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(649-651)cgC>cgT		even-skipped homeobox 2							21.0	19.0	20.0					2																	176946954		2185	4284	6469	SO:0001819	synonymous_variant	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176946954G>A		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.651C>T	2.37:g.176946954G>A							p.R217R	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	787	-			217						Silent	SNP	ENST00000308618.4	37	c.651C>T	CCDS33333.1																																																																																				0.657	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			15	12	0	0	0	1	0	15	12				
MRGBP	55257	broad.mit.edu	37	20	61428574	61428574	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:61428574G>T	ENST00000370487.3	+	2	332	c.261G>T	c.(259-261)atG>atT	p.M87I		NM_018270.4	NP_060740.1	Q9NV56	MRGBP_HUMAN	MRG/MORF4L binding protein	87					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	H4/H2A histone acetyltransferase complex (GO:0043189)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TGTACGACATGCAGGCGCTGG	0.622																																						ENST00000370487.3																			0											c.(259-261)atG>atT		MRG/MORF4L binding protein							73.0	58.0	63.0					20																	61428574		2202	4298	6500	SO:0001583	missense	55257							g.chr20:61428574G>T	AK001776	CCDS13503.1	20q13.33	2012-10-29	2012-10-29	2012-10-29	ENSG00000101189	ENSG00000101189			15866	protein-coding gene	gene with protein product		611157	"""chromosome 20 open reading frame 20"""	C20orf20		12963728	Standard	NM_018270		Approved	FLJ10914, MRG15BP, Eaf7	uc002ydi.3	Q9NV56	OTTHUMG00000032940	ENST00000370487.3:c.261G>T	20.37:g.61428574G>T	ENSP00000359518:p.Met87Ile						p.M87I	NM_018270.4	NP_060740.1					2	332	+								A8C4L5	Missense_Mutation	SNP	ENST00000370487.3	37	c.261G>T	CCDS13503.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997553	0.74818	.	.	ENSG00000101189	ENST00000370487	.	.	.	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.65606	0.2707	L	0.60455	1.87	0.80722	D	1	B	0.15141	0.012	B	0.19946	0.027	T	0.66236	-0.5974	9	0.59425	D	0.04	-21.2414	17.1054	0.86662	0.0:0.0:1.0:0.0	.	87	Q9NV56	MRGBP_HUMAN	I	87	.	ENSP00000359518:M87I	M	+	3	0	C20orf20	60899019	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.315000	0.89983	2.017000	0.59298	0.542000	0.68232	ATG		0.622	MRGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080080.1	NM_018270		24	42	1	0	6.36457e-07	1	7.03961e-07	24	42				
CCDC129	223075	broad.mit.edu	37	7	31691586	31691586	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:31691586G>T	ENST00000407970.3	+	13	2783	c.2745G>T	c.(2743-2745)gaG>gaT	p.E915D	CCDC129_ENST00000409210.1_Missense_Mutation_p.E823D|CCDC129_ENST00000319386.3_Missense_Mutation_p.E767D|CCDC129_ENST00000451887.2_Missense_Mutation_p.E941D	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	915										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CGTTACGTGAGGCCCTGAGGC	0.483																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(2299-2301)gaG>gaT		coiled-coil domain containing 129							73.0	62.0	66.0					7																	31691586		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31691586G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2745G>T	7.37:g.31691586G>T	ENSP00000384416:p.Glu915Asp					CCDC129_ENST00000409210.1_Missense_Mutation_p.E823D|CCDC129_ENST00000451887.2_Missense_Mutation_p.E941D|CCDC129_ENST00000407970.3_Missense_Mutation_p.E915D	p.E767D			Q6ZRS4	CC129_HUMAN			13	3294	+			915					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2301G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898512	0.52227	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.21	0.685	0.18009	.	0.905646	0.09313	N	0.819380	T	0.32224	0.0822	L	0.53249	1.67	0.18873	N	0.999983	P;P;P;P	0.51933	0.902;0.782;0.782;0.949	P;B;B;B	0.46543	0.52;0.423;0.295;0.359	T	0.21143	-1.0254	10	0.36615	T	0.2	-1.5036	8.3972	0.32564	0.3844:0.0:0.6156:0.0	.	941;925;915;767	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	D	767;915;941;925;823	ENSP00000313062:E767D;ENSP00000384416:E915D;ENSP00000395835:E941D;ENSP00000387214:E823D	ENSP00000313062:E767D	E	+	3	2	CCDC129	31658111	0.809000	0.29036	0.308000	0.25141	0.799000	0.45148	0.623000	0.24447	0.199000	0.20427	0.561000	0.74099	GAG		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		3	0	1	0	1	1	1	3	0				
CCNB3	85417	broad.mit.edu	37	X	50052792	50052792	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:50052792G>T	ENST00000376042.1	+	6	1921	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E541D			Q8WWL7	CCNB3_HUMAN	cyclin B3	541					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCACACAAGAGATGATGTCCA	0.373																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1621-1623)gaG>gaT		cyclin B3							40.0	35.0	37.0					X																	50052792		2203	4299	6502	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50052792G>T	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1623G>T	X.37:g.50052792G>T	ENSP00000365210:p.Glu541Asp					CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E541D|CCNB3_ENST00000376038.1_Intron	p.E541D			Q8WWL7	CCNB3_HUMAN			6	1921	+	Ovarian(276;0.236)		541					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.1623G>T	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	9.461	1.093044	0.20471	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.35236	1.32;1.32	3.79	-4.8	0.03190	.	683.145000	0.00166	N	0.000000	T	0.21881	0.0527	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.05920	-1.0856	9	.	.	.	.	1.8596	0.03186	0.523:0.1447:0.1847:0.1476	.	541	Q8WWL7	CCNB3_HUMAN	D	541	ENSP00000365210:E541D;ENSP00000276014:E541D	.	E	+	3	2	CCNB3	50069532	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.442000	0.02407	-1.221000	0.02591	0.513000	0.50165	GAG		0.373	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			17	6	1	0	0.00400662	1	0.00411369	17	6				
PCDH17	27253	broad.mit.edu	37	13	58209108	58209108	+	Silent	SNP	C	C	A	rs147572809		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:58209108C>A	ENST00000377918.3	+	1	2454	c.2428C>A	c.(2428-2430)Cgg>Agg	p.R810R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	810					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGCTCGCCCCGGTCGGAGGT	0.632																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2428-2430)Cgg>Agg		protocadherin 17																																				SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58209108C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2428C>A	13.37:g.58209108C>A							p.R810R	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2454	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	810					A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2428C>A	CCDS31986.1																																																																																				0.632	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		7	19	1	0	0.0293803	1	0.0296648	7	19				
SHD	56961	broad.mit.edu	37	19	4290529	4290529	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:4290529A>T	ENST00000543264.2	+	6	2385	c.922A>T	c.(922-924)Agc>Tgc	p.S308C	SHD_ENST00000599689.1_Missense_Mutation_p.S268C	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	308	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCTTCCCCAGCGTGCCCGA	0.672																																						ENST00000543264.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14						c.(922-924)Agc>Tgc		Src homology 2 domain containing transforming protein D							70.0	66.0	67.0					19																	4290529		2203	4300	6503	SO:0001583	missense	56961							g.chr19:4290529A>T	BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.922A>T	19.37:g.4290529A>T	ENSP00000446058:p.Ser308Cys					SHD_ENST00000599689.1_Missense_Mutation_p.S268C	p.S308C	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)	6	2385	+			308			SH2.		Q96NC2	Missense_Mutation	SNP	ENST00000543264.2	37	c.922A>T	CCDS12125.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908116	0.52333	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.58506	0.33	4.4	4.4	0.53042	SH2 motif (5);	0.105192	0.64402	D	0.000007	T	0.74906	0.3778	M	0.84585	2.705	0.37424	D	0.913766	D;P	0.53619	0.961;0.929	P;D	0.64042	0.856;0.921	T	0.81389	-0.0955	10	0.56958	D	0.05	-17.459	11.6509	0.51288	1.0:0.0:0.0:0.0	.	215;308	Q9NPN8;Q96IW2	.;SHD_HUMAN	C	308;223	ENSP00000446058:S308C	ENSP00000221852:S223C	S	+	1	0	SHD	4241529	1.000000	0.71417	0.998000	0.56505	0.572000	0.35998	4.296000	0.59055	1.864000	0.54056	0.392000	0.25879	AGC		0.672	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458082.1	NM_020209		39	84	0	0	0	1	0	39	84				
OR13F1	138805	broad.mit.edu	37	9	107267262	107267262	+	Missense_Mutation	SNP	C	C	G	rs567602092		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:107267262C>G	ENST00000334726.2	+	1	808	c.719C>G	c.(718-720)aCg>aGg	p.T240R		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCCTTTTCAACGTGCACAGCC	0.473																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(718-720)aCg>aGg		olfactory receptor, family 13, subfamily F, member 1							178.0	163.0	168.0					9																	107267262		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107267262C>G		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.719C>G	9.37:g.107267262C>G	ENSP00000334452:p.Thr240Arg						p.T240R	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	808	+			240					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.719C>G	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034972	0.54896	.	.	ENSG00000186881	ENST00000334726	T	0.35605	1.3	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.118020	0.37530	N	0.002044	T	0.76263	0.3963	H	0.99379	4.54	0.43457	D	0.995659	D	0.76494	0.999	D	0.76575	0.988	D	0.86474	0.1787	10	0.87932	D	0	.	15.0807	0.72113	0.0:1.0:0.0:0.0	.	240	Q8NGS4	O13F1_HUMAN	R	240	ENSP00000334452:T240R	ENSP00000334452:T240R	T	+	2	0	OR13F1	106307083	1.000000	0.71417	0.995000	0.50966	0.537000	0.34900	5.790000	0.69038	2.681000	0.91329	0.655000	0.94253	ACG		0.473	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			7	103	0	0	0	1	0	7	103				
USH2A	7399	broad.mit.edu	37	1	216052140	216052140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:216052140G>A	ENST00000307340.3	-	42	8910	c.8524C>T	c.(8524-8526)Caa>Taa	p.Q2842*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.Q2842*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2842	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATGGTGGTTGCCAAGAAATC	0.423										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(8524-8526)Caa>Taa		Usher syndrome 2A (autosomal recessive, mild)							106.0	102.0	104.0					1																	216052140		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216052140G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8524C>T	1.37:g.216052140G>A	ENSP00000305941:p.Gln2842*	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q2842*	p.Q2842*			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	42	8910	-			2842			Fibronectin type-III 15.		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.8524C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	53	20.162334	0.99927	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	5.9	5.9	0.94986	.	0.000000	0.42821	D	0.000647	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	.	.	.	X	2842	.	ENSP00000305941:Q2842X	Q	-	1	0	USH2A	214118763	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.143000	0.71756	2.788000	0.95919	0.650000	0.86243	CAA		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	45	0	0	0	1	0	9	45				
GBA3	57733	broad.mit.edu	37	4	22749478	22749478	+	RNA	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:22749478A>G	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAGGCTATCCATCATCGAGGC	0.388																																						ENST00000503442.1																			0				breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33								glucosidase, beta, acid 3 (gene/pseudogene)							53.0	52.0	52.0					4																	22749478		1850	4112	5962			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749478A>G	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749478A>G						GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA		NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN			0	377	+								Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	RNA	SNP	ENST00000503442.1	37																																																																																						0.388	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			7	8	0	0	0	1	0	7	8				
ANKRD24	170961	broad.mit.edu	37	19	4216579	4216579	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:4216579G>A	ENST00000600132.1	+	18	1698	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	ANKRD24_ENST00000262970.5_Silent_p.Q564Q|ANKRD24_ENST00000318934.4_Silent_p.Q474Q	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	474										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		ACGAGACACAGATGGAAGTGG	0.602																																						ENST00000600132.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21						c.(1420-1422)caG>caA		ankyrin repeat domain 24							26.0	27.0	27.0					19																	4216579		2036	4178	6214	SO:0001819	synonymous_variant	170961							g.chr19:4216579G>A	AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.1422G>A	19.37:g.4216579G>A						ANKRD24_ENST00000318934.4_Silent_p.Q474Q|ANKRD24_ENST00000262970.5_Silent_p.Q564Q	p.Q474Q	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)	18	1698	+			474					O75268|O95781	Silent	SNP	ENST00000600132.1	37	c.1422G>A	CCDS45925.1																																																																																				0.602	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458188.1	XM_114000		6	11	0	0	0	1	0	6	11				
LRP1B	53353	broad.mit.edu	37	2	141208161	141208161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:141208161C>A	ENST00000389484.3	-	63	11004	c.10033G>T	c.(10033-10035)Gga>Tga	p.G3345*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3345	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G3345R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAGATCCATCACCACAG	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			1	Substitution - Missense(1)	p.G3345R(1)	lung(1)	NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10033-10035)Gga>Tga		low density lipoprotein receptor-related protein 1B							130.0	128.0	129.0					2																	141208161		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141208161C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10033G>T	2.37:g.141208161C>A	ENSP00000374135:p.Gly3345*	TSP Lung(27;0.18)					p.G3345*	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	63	11004	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3345			LDL-receptor class A 21.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.10033G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	56	25.609950	0.99965	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	15.2771	0.73750	0.0:0.8602:0.1398:0.0	.	.	.	.	X	3345;3283	.	ENSP00000374135:G3345X	G	-	1	0	LRP1B	140924631	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.748000	0.62148	2.757000	0.94681	0.585000	0.79938	GGA		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		16	35	1	0	1.55795e-14	1	1.96086e-14	16	35				
DPY19L1	23333	broad.mit.edu	37	7	34981467	34981467	+	Silent	SNP	T	T	C	rs376525655		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:34981467T>C	ENST00000310974.4	-	18	1524	c.1380A>G	c.(1378-1380)gcA>gcG	p.A460A	MIR548N_ENST00000408742.1_RNA	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	460						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GGGCTGTATATGCTAACAATT	0.353													T|||	1	0.000199681	0.0	0.0	5008	,	,		18282	0.0		0.0	False		,,,				2504	0.001					ENST00000310974.4																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						c.(1378-1380)gcA>gcG		dpy-19-like 1 (C. elegans)							54.0	53.0	53.0					7																	34981467		1797	4041	5838	SO:0001819	synonymous_variant	23333					integral to membrane		g.chr7:34981467T>C	AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1380A>G	7.37:g.34981467T>C							p.A460A	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN			18	1524	-			460					O94954|Q4G151	Silent	SNP	ENST00000310974.4	37	c.1380A>G	CCDS43567.1																																																																																				0.353	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1			29	21	0	0	0	1	0	29	21				
ANK1	286	broad.mit.edu	37	8	41553999	41553999	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:41553999G>T	ENST00000347528.4	-	26	2925	c.2842C>A	c.(2842-2844)Cgc>Agc	p.R948S	ANK1_ENST00000265709.8_Missense_Mutation_p.R989S|ANK1_ENST00000396945.1_Missense_Mutation_p.R948S|ANK1_ENST00000396942.1_Missense_Mutation_p.R948S|ANK1_ENST00000379758.2_Missense_Mutation_p.R948S|ANK1_ENST00000352337.4_Missense_Mutation_p.R948S|ANK1_ENST00000289734.7_Missense_Mutation_p.R948S	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	948	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGGTGATGCGGGTGGGCGCT	0.687																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2842-2844)Cgc>Agc		ankyrin 1, erythrocytic							41.0	41.0	41.0					8																	41553999		2201	4298	6499	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41553999G>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2842C>A	8.37:g.41553999G>T	ENSP00000339620:p.Arg948Ser					ANK1_ENST00000265709.8_Missense_Mutation_p.R989S|ANK1_ENST00000347528.4_Missense_Mutation_p.R948S|ANK1_ENST00000352337.4_Missense_Mutation_p.R948S|ANK1_ENST00000379758.2_Missense_Mutation_p.R948S|ANK1_ENST00000289734.7_Missense_Mutation_p.R948S|ANK1_ENST00000396945.1_Missense_Mutation_p.R948S	p.R948S			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		26	2925	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	948			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2842C>A	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.392285|5.392285	0.95988|0.95988	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.45668	.|0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.67|5.67	5.67|5.67	0.87782|0.87782	.|ZU5 (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69646|0.69646	0.3134|0.3134	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|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	.|0.985;0.98;1.0;1.0;0.985;1.0	T|T	0.71527|0.71527	-0.4566|-0.4566	5|10	.|0.54805	.|T	.|0.06	.|.	19.7607|19.7607	0.96316|0.96316	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|989;948;948;948;948;264	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	Q|S	269|948;948;948;948;948;948;989;948	.|ENSP00000339620:R948S;ENSP00000289734:R948S;ENSP00000369082:R948S;ENSP00000380149:R948S;ENSP00000380147:R948S;ENSP00000309131:R948S;ENSP00000265709:R989S	.|ENSP00000265709:R989S	P|R	-|-	2|1	0|0	ANK1|ANK1	41673156|41673156	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.883000|0.883000	0.51084|0.51084	9.841000|9.841000	0.99482|0.99482	2.686000|2.686000	0.91538|0.91538	0.561000|0.561000	0.74099|0.74099	CCG|CGC		0.687	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		17	52	1	0	2.4624e-09	1	2.82634e-09	17	52				
RBM47	54502	broad.mit.edu	37	4	40440638	40440638	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:40440638G>T	ENST00000381793.2	-	3	669	c.273C>A	c.(271-273)ttC>ttA	p.F91L	RBM47_ENST00000381795.6_Missense_Mutation_p.F91L|RBM47_ENST00000319592.4_Missense_Mutation_p.F91L|RBM47_ENST00000514014.1_Missense_Mutation_p.F53L|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.F91L			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	91	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCACGGCCTCGAACACGGGCA	0.672																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(271-273)ttC>ttA		RNA binding motif protein 47							67.0	63.0	65.0					4																	40440638		2203	4300	6503	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440638G>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.273C>A	4.37:g.40440638G>T	ENSP00000371212:p.Phe91Leu					RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.F91L|RBM47_ENST00000295971.7_Missense_Mutation_p.F91L|RBM47_ENST00000381795.6_Missense_Mutation_p.F91L|RBM47_ENST00000514014.1_Missense_Mutation_p.F53L	p.F91L			A0AV96	RBM47_HUMAN			4	982	-			91			RRM 1.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.273C>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897148	0.33535	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414;ENST00000514782;ENST00000507180;ENST00000511598	T;T;T;T;T;T;T;T;T;T;T	0.67171	0.95;-0.25;0.95;-0.25;-0.25;0.95;-0.25;-0.25;-0.25;-0.25;-0.25	5.58	3.82	0.43975	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	L	0.56199	1.76	0.80722	D	1	D;P	0.58268	0.982;0.698	D;P	0.70227	0.968;0.7	T	0.71735	-0.4503	10	0.39692	T	0.17	-19.4592	8.5543	0.33471	0.3:0.0:0.7:0.0	.	91;91	A0AV96-2;A0AV96	.;RBM47_HUMAN	L	91;91;91;91;53;91;91;91;91;91;91	ENSP00000320108:F91L;ENSP00000371212:F91L;ENSP00000371214:F91L;ENSP00000295971:F91L;ENSP00000423243:F53L;ENSP00000422564:F91L;ENSP00000421589:F91L;ENSP00000423527:F91L;ENSP00000426542:F91L;ENSP00000423398:F91L;ENSP00000424019:F91L	ENSP00000295971:F91L	F	-	3	2	RBM47	40135395	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	1.529000	0.35996	1.336000	0.45506	0.313000	0.20887	TTC		0.672	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		38	27	1	0	1.04594e-18	1	1.39586e-18	38	27				
SPEF2	79925	broad.mit.edu	37	5	35712924	35712924	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:35712924T>A	ENST00000356031.3	+	20	3004	c.2850T>A	c.(2848-2850)caT>caA	p.H950Q	SPEF2_ENST00000440995.2_Missense_Mutation_p.H945Q|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	950					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCCCCGCATGGTAAGCAAG	0.358																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2833-2835)caT>caA		sperm flagellar 2							79.0	79.0	79.0					5																	35712924		1827	4078	5905	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35712924T>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.2850T>A	5.37:g.35712924T>A	ENSP00000348314:p.His950Gln					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.H950Q	p.H945Q			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		20	2835	+	all_lung(31;7.56e-05)		950					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.2835T>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	T	0.235	-1.017724	0.02078	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.05925	3.37;3.46	4.43	0.215	0.15253	.	1.322530	0.04857	N	0.443405	T	0.03739	0.0106	N	0.14661	0.345	0.09310	N	0.999995	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.001	T	0.44236	-0.9341	10	0.12430	T	0.62	.	4.7268	0.12945	0.0:0.1559:0.169:0.6752	.	945;950	Q9C093-2;Q9C093	.;SPEF2_HUMAN	Q	950;945	ENSP00000348314:H950Q;ENSP00000412125:H945Q	ENSP00000348314:H950Q	H	+	3	2	SPEF2	35748681	0.185000	0.23213	0.085000	0.20634	0.168000	0.22595	0.139000	0.16036	-0.014000	0.14175	0.533000	0.62120	CAT		0.358	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		40	21	0	0	0	1	0	40	21				
PRUNE2	158471	broad.mit.edu	37	9	79320286	79320286	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:79320286T>G	ENST00000376718.3	-	8	7027	c.6904A>C	c.(6904-6906)Agt>Cgt	p.S2302R	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S1943R	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2302					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCGCTGAAACTGTGGTCAAAG	0.483																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5827-5829)Agt>Cgt		prune homolog 2 (Drosophila)							77.0	71.0	73.0					9																	79320286		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320286T>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6904A>C	9.37:g.79320286T>G	ENSP00000365908:p.Ser2302Arg					PRUNE2_ENST00000376718.3_Missense_Mutation_p.S2302R	p.S1943R			Q8WUY3	PRUN2_HUMAN			8	7027	-			2302					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5827A>C	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.979153|3.979153	0.74360|0.74360	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.55052	.|0.54;0.56	5.79|5.79	4.64|4.64	0.57946|0.57946	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.66489|0.66489	0.2794|0.2794	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.71870	.|0.975	T|T	0.69235|0.69235	-0.5198|-0.5198	5|10	.|0.72032	.|D	.|0.01	-19.9432|-19.9432	10.7921|10.7921	0.46438|0.46438	0.0:0.0732:0.0:0.9268|0.0:0.0732:0.0:0.9268	.|.	.|2302	.|Q8WUY3	.|PRUN2_HUMAN	P|R	1623|2302;1943;2301	.|ENSP00000365908:S2302R;ENSP00000397425:S1943R	.|ENSP00000365908:S2302R	Q|S	-|-	2|1	0|0	PRUNE2|PRUNE2	78510106|78510106	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.349000|3.349000	0.52217|0.52217	2.202000|2.202000	0.70862|0.70862	0.533000|0.533000	0.62120|0.62120	CAG|AGT		0.483	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		35	34	0	0	0	1	0	35	34				
CDH12	1010	broad.mit.edu	37	5	21975224	21975224	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:21975224T>A	ENST00000382254.1	-	6	1588	c.502A>T	c.(502-504)Act>Tct	p.T168S	CDH12_ENST00000522262.1_Missense_Mutation_p.T168S|CDH12_ENST00000504376.2_Missense_Mutation_p.T168S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	168	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGGAACAGTAGCAACATAA	0.398										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(502-504)Act>Tct		cadherin 12, type 2 (N-cadherin 2)							101.0	102.0	101.0					5																	21975224		2051	3904	5955	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21975224T>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.502A>T	5.37:g.21975224T>A	ENSP00000371689:p.Thr168Ser	HNSCC(59;0.17)				CDH12_ENST00000504376.2_Missense_Mutation_p.T168S|CDH12_ENST00000522262.1_Missense_Mutation_p.T168S	p.T168S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			6	1588	-			168			Cadherin 2.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.502A>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	7.143	0.582171	0.13749	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.60299	0.86;0.86;0.2	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.037229	0.85682	N	0.000000	T	0.27027	0.0662	N	0.01668	-0.77	0.35190	D	0.773321	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.35001	-0.9806	10	0.02654	T	1	.	14.9747	0.71261	0.0:0.0:0.0:1.0	.	168;168	B7Z2U6;P55289	.;CAD12_HUMAN	S	168	ENSP00000423577:T168S;ENSP00000371689:T168S;ENSP00000428786:T168S	ENSP00000371689:T168S	T	-	1	0	CDH12	22010981	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	5.871000	0.69628	1.954000	0.56735	0.397000	0.26171	ACT		0.398	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		29	176	0	0	0	1	0	29	176				
FLRT2	23768	broad.mit.edu	37	14	86089629	86089629	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:86089629G>T	ENST00000330753.4	+	2	2538	c.1771G>T	c.(1771-1773)Gca>Tca	p.A591S	FLRT2_ENST00000554746.1_Missense_Mutation_p.A591S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	591					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTATTGCGAGGCAGGCACCAA	0.483																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1771-1773)Gca>Tca		fibronectin leucine rich transmembrane protein 2							104.0	111.0	108.0					14																	86089629		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089629G>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1771G>T	14.37:g.86089629G>T	ENSP00000332879:p.Ala591Ser					FLRT2_ENST00000554746.1_Missense_Mutation_p.A591S	p.A591S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2538	+			591					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1771G>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310501	0.40895	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.55052	0.54;0.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.37265	0.0997	N	0.25890	0.77	0.80722	D	1	P	0.43094	0.799	B	0.30782	0.12	T	0.22417	-1.0217	10	0.13853	T	0.58	-16.248	20.8794	0.99867	0.0:0.0:1.0:0.0	.	591	O43155	FLRT2_HUMAN	S	591;591;244	ENSP00000332879:A591S;ENSP00000451050:A591S	ENSP00000332879:A591S	A	+	1	0	FLRT2	85159382	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.618000	0.74214	2.941000	0.99782	0.655000	0.94253	GCA		0.483	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			82	135	1	0	4.34595e-34	1	6.3578e-34	82	135				
IQGAP2	10788	broad.mit.edu	37	5	75866432	75866432	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:75866432G>C	ENST00000274364.6	+	4	628	c.331G>C	c.(331-333)Gat>Cat	p.D111H	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	111	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCGACACACAGATAATACCGT	0.438																																						ENST00000274364.6																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(331-333)Gat>Cat		IQ motif containing GTPase activating protein 2							175.0	165.0	168.0					5																	75866432		2203	4300	6503	SO:0001583	missense	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75866432G>C	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.331G>C	5.37:g.75866432G>C	ENSP00000274364:p.Asp111His					IQGAP2_ENST00000379730.3_5'UTR	p.D111H	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	4	628	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	111			CH.		A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	ENST00000274364.6	37	c.331G>C	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415596	0.83449	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.47177	0.85;0.85;0.85	5.52	5.52	0.82312	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82178	-0.0586	10	0.87932	D	0	-30.1445	19.4372	0.94801	0.0:0.0:1.0:0.0	.	111	Q13576	IQGA2_HUMAN	H	111;84;61	ENSP00000274364:D111H;ENSP00000423672:D84H;ENSP00000421097:D61H	ENSP00000274364:D111H	D	+	1	0	IQGAP2	75902188	1.000000	0.71417	0.996000	0.52242	0.598000	0.36846	9.736000	0.98828	2.601000	0.87937	0.655000	0.94253	GAT		0.438	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		46	31	0	0	0	1	0	46	31				
MROH5	389690	broad.mit.edu	37	8	142482981	142482981	+	RNA	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:142482981A>T	ENST00000430863.1	-	0	1918					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CAGGAATTTGAGGAGGATCAT	0.657																																						ENST00000430863.1																			0													maestro heat-like repeat family member 5							33.0	39.0	37.0					8																	142482981		2110	4233	6343			389690							g.chr8:142482981A>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142482981A>T								NM_207414.2	NP_997297.2					0	1918	-									RNA	SNP	ENST00000430863.1	37																																																																																						0.657	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		12	12	0	0	0	1	0	12	12				
HIVEP3	59269	broad.mit.edu	37	1	42047048	42047048	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:42047048G>A	ENST00000372583.1	-	4	4306	c.3421C>T	c.(3421-3423)Cca>Tca	p.P1141S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1141S|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1141S|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P1141S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1141					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGACTGGTGGGGGCAGGTAT	0.602																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(3421-3423)Cca>Tca		human immunodeficiency virus type I enhancer binding protein 3							103.0	108.0	106.0					1																	42047048		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047048G>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3421C>T	1.37:g.42047048G>A	ENSP00000361664:p.Pro1141Ser					HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1141S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1141S|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1141S	p.P1141S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	4435	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1141					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.3421C>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	7.947	0.743993	0.15710	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05649	3.42;3.41;3.41;3.42	4.24	4.24	0.50183	.	0.000000	0.44902	D	0.000416	T	0.13884	0.0336	L	0.27053	0.805	0.39122	D	0.96167	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.13872	-1.0493	10	0.38643	T	0.18	-0.1074	14.5688	0.68197	0.0:0.0:1.0:0.0	.	1141;1141	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	S	1141	ENSP00000361665:P1141S;ENSP00000361664:P1141S;ENSP00000247584:P1141S;ENSP00000410828:P1141S	ENSP00000247584:P1141S	P	-	1	0	HIVEP3	41819635	1.000000	0.71417	0.853000	0.33588	0.025000	0.11179	2.975000	0.49281	2.192000	0.70111	0.467000	0.42956	CCA		0.602	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		48	123	0	0	0	1	0	48	123				
AK5	26289	broad.mit.edu	37	1	77752771	77752771	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:77752771C>A	ENST00000354567.2	+	2	469	c.206C>A	c.(205-207)cCa>cAa	p.P69Q	AK5_ENST00000344720.5_Missense_Mutation_p.P43Q|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	69					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ACCTTACCTCCACTAAATGGA	0.358																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(127-129)cCa>cAa		adenylate kinase 5							86.0	84.0	85.0					1																	77752771		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77752771C>A	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.206C>A	1.37:g.77752771C>A	ENSP00000346577:p.Pro69Gln					AK5_ENST00000354567.2_Missense_Mutation_p.P69Q|AK5_ENST00000317704.4_3'UTR	p.P43Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			2	1154	+			69					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.128C>A	CCDS675.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161657	0.78226	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;D;D	0.94046	-1.17;-1.94;-3.34	5.59	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.93086	0.7799	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.961	D;P	0.66196	0.942;0.708	D	0.93681	0.6998	10	0.72032	D	0.01	0.0022	15.6204	0.76802	0.1381:0.8619:0.0:0.0	.	69;69	Q9Y6K8;Q8N291	KAD5_HUMAN;.	Q	69;43;43	ENSP00000346577:P69Q;ENSP00000341430:P43Q;ENSP00000434409:P43Q	ENSP00000341430:P43Q	P	+	2	0	AK5	77525359	1.000000	0.71417	0.925000	0.36789	0.735000	0.41995	5.637000	0.67854	2.809000	0.96659	0.650000	0.86243	CCA		0.358	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		25	56	1	0	5.45024e-15	1	6.93149e-15	25	56				
ITGAX	3687	broad.mit.edu	37	16	31374634	31374634	+	Missense_Mutation	SNP	G	G	A	rs201067451		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:31374634G>A	ENST00000268296.4	+	14	1770	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	ITGAX_ENST00000562522.1_Missense_Mutation_p.R550Q	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	550					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R550Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GAGGAGAACCGGGGTGCTGTC	0.632																																						ENST00000268296.4																			1	Substitution - Missense(1)	p.R550Q(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1648-1650)cGg>cAg		integrin, alpha X (complement component 3 receptor 4 subunit)							116.0	121.0	119.0					16																	31374634		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31374634G>A	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1649G>A	16.37:g.31374634G>A	ENSP00000268296:p.Arg550Gln					ITGAX_ENST00000562522.1_Missense_Mutation_p.R550Q	p.R550Q	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			14	1770	+			550					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1649G>A	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	0.146	-1.096212	0.01843	.	.	ENSG00000140678	ENST00000268296	T	0.11385	2.78	4.14	-8.28	0.01013	.	.	.	.	.	T	0.04497	0.0123	N	0.16833	0.445	0.09310	N	1	P	0.41624	0.757	B	0.21546	0.035	T	0.21211	-1.0252	9	0.09338	T	0.73	.	20.9386	0.99941	0.19:0.0:0.81:0.0	.	550	P20702	ITAX_HUMAN	Q	550	ENSP00000268296:R550Q	ENSP00000268296:R550Q	R	+	2	0	ITGAX	31282135	0.000000	0.05858	0.046000	0.18839	0.022000	0.10575	-4.384000	0.00242	-2.788000	0.00357	-1.641000	0.00772	CGG		0.632	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		84	166	0	0	0	1	0	84	166				
SNX7	51375	broad.mit.edu	37	1	99157183	99157183	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:99157183G>C	ENST00000306121.3	+	4	576	c.567G>C	c.(565-567)ttG>ttC	p.L189F	SNX7_ENST00000529992.1_Intron|SNX7_ENST00000370189.5_Missense_Mutation_p.L125F	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	125					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		ATAAATTTTTGAACCGAATTG	0.338																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(373-375)ttG>ttC		sorting nexin 7							71.0	72.0	72.0					1																	99157183		2203	4300	6503	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99157183G>C	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.567G>C	1.37:g.99157183G>C	ENSP00000304429:p.Leu189Phe					SNX7_ENST00000306121.3_Missense_Mutation_p.L189F|SNX7_ENST00000529992.1_Intron	p.L125F			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	5	739	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	125			PX.		A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.375G>C	CCDS755.2	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645919	0.67358	.	.	ENSG00000162627	ENST00000370189;ENST00000306121	T;T	0.60797	0.16;0.16	5.71	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.77658	0.4163	H	0.94771	3.58	0.54753	D	0.999982	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.82180	-0.0585	10	0.87932	D	0	-20.7962	10.9687	0.47426	0.154:0.0:0.846:0.0	.	189;125	Q9UNH6-3;Q9UNH6-2	.;.	F	125;189	ENSP00000359208:L125F;ENSP00000304429:L189F	ENSP00000304429:L189F	L	+	3	2	SNX7	98929771	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.145000	0.31577	2.710000	0.92621	0.650000	0.86243	TTG		0.338	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			12	25	0	0	0	1	0	12	25				
NLGN1	22871	broad.mit.edu	37	3	173998518	173998518	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:173998518G>T	ENST00000457714.1	+	7	2326	c.1897G>T	c.(1897-1899)Gac>Tac	p.D633Y	NLGN1_ENST00000401917.3_Missense_Mutation_p.D673Y|NLGN1_ENST00000545397.1_Missense_Mutation_p.D633Y|NLGN1_ENST00000361589.4_Missense_Mutation_p.D633Y	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	650					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GCCATCAACTGACATCACTTT	0.433																																						ENST00000457714.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1897-1899)Gac>Tac		neuroligin 1							123.0	122.0	122.0					3																	173998518		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173998518G>T	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1897G>T	3.37:g.173998518G>T	ENSP00000392500:p.Asp633Tyr					NLGN1_ENST00000401917.3_Missense_Mutation_p.D673Y|NLGN1_ENST00000361589.4_Missense_Mutation_p.D633Y|NLGN1_ENST00000545397.1_Missense_Mutation_p.D633Y	p.D633Y	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		7	2326	+	Ovarian(172;0.0025)		650					Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1897G>T	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	14.51	2.558101	0.45590	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.67698	-0.27;-0.27;-0.27;-0.28	5.59	5.59	0.84812	.	0.049251	0.85682	D	0.000000	T	0.72391	0.3454	L	0.36672	1.1	0.80722	D	1	D	0.53462	0.96	P	0.55824	0.785	T	0.72737	-0.4203	10	0.54805	T	0.06	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	633	Q8N2Q7-2	.	Y	633;633;633;673	ENSP00000392500:D633Y;ENSP00000354541:D633Y;ENSP00000441108:D633Y;ENSP00000385750:D673Y	ENSP00000354541:D633Y	D	+	1	0	NLGN1	175481212	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.208000	0.95075	2.783000	0.95769	0.655000	0.94253	GAC		0.433	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		67	142	1	0	3.8128e-34	1	5.58905e-34	67	142				
ATG2B	55102	broad.mit.edu	37	14	96783634	96783634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:96783634C>A	ENST00000359933.4	-	20	3951	c.3058G>T	c.(3058-3060)Gag>Tag	p.E1020*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1020					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAAGTCTCCTCCTCAGATCCA	0.328																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3058-3060)Gag>Tag		autophagy related 2B							57.0	54.0	55.0					14																	96783634		1811	4086	5897	SO:0001587	stop_gained	55102							g.chr14:96783634C>A	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3058G>T	14.37:g.96783634C>A	ENSP00000353010:p.Glu1020*						p.E1020*	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	3951	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1020					Q6ZRE7|Q96DQ3|Q9NW80	Nonsense_Mutation	SNP	ENST00000359933.4	37	c.3058G>T	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	49	14.951703	0.99816	.	.	ENSG00000066739	ENST00000359933	.	.	.	5.66	5.66	0.87406	.	0.274240	0.29113	U	0.013117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	20.1225	0.97967	0.0:1.0:0.0:0.0	.	.	.	.	X	1020	.	ENSP00000353010:E1020X	E	-	1	0	ATG2B	95853387	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.076000	0.76806	2.831000	0.97527	0.650000	0.86243	GAG		0.328	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		21	4	1	0	1.96292e-10	1	2.30375e-10	21	4				
IPO13	9670	broad.mit.edu	37	1	44415343	44415343	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:44415343C>T	ENST00000372343.3	+	2	1001	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	113					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCGCTTTGCCAGTGGCTCCA	0.552																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(337-339)gcC>gcT		importin 13							116.0	101.0	106.0					1																	44415343		2203	4300	6503	SO:0001819	synonymous_variant	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415343C>T	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.339C>T	1.37:g.44415343C>T							p.A113A	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			2	1001	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	113					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Silent	SNP	ENST00000372343.3	37	c.339C>T	CCDS503.1																																																																																				0.552	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		11	61	0	0	0	1	0	11	61				
C12orf40	283461	broad.mit.edu	37	12	40077286	40077286	+	Splice_Site	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:40077286T>C	ENST00000324616.5	+	9	1440	c.1286T>C	c.(1285-1287)aTg>aCg	p.M429T	C12orf40_ENST00000405531.3_Splice_Site_p.M429T|C12orf40_ENST00000398716.1_Splice_Site_p.I352T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	429										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GCAAACTCTATGTAAGTTTTT	0.328																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.e9+1		chromosome 12 open reading frame 40							57.0	57.0	57.0					12																	40077286		1844	4087	5931	SO:0001630	splice_region_variant	283461							g.chr12:40077286T>C	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.1286+1T>C	12.37:g.40077286T>C						C12orf40_ENST00000405531.3_Splice_Site_p.M429_splice|C12orf40_ENST00000398716.1_Splice_Site_p.I352_splice	p.M429_splice	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			9	1440	+			429					B7WNU1|Q8IXY6|Q8N818|V9HW02	Splice_Site	SNP	ENST00000324616.5	37	c.1286_splice	CCDS41770.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.123|7.123	0.578362|0.578362	0.13686|0.13686	.|.	.|.	ENSG00000180116|ENSG00000180116	ENST00000398716|ENST00000405531;ENST00000324616	.|T;T	.|0.47869	.|0.83;0.84	5.02|5.02	1.17|1.17	0.20885|0.20885	.|.	.|0.926484	.|0.09137	.|N	.|0.843607	T|T	0.27559|0.27559	0.0677|0.0677	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	.|B	.|0.13145	.|0.007	.|B	.|0.10450	.|0.005	T|T	0.23440|0.23440	-1.0188|-1.0188	5|10	.|0.23891	.|T	.|0.37	.|.	4.8606|4.8606	0.13581|0.13581	0.0:0.1691:0.3:0.5309|0.0:0.1691:0.3:0.5309	.|.	.|429	.|Q86WS4	.|CL040_HUMAN	T|T	352|429	.|ENSP00000383897:M429T;ENSP00000317671:M429T	.|ENSP00000317671:M429T	I|M	+|+	2|2	0|0	C12orf40|C12orf40	38363553|38363553	0.363000|0.363000	0.24989|0.24989	0.255000|0.255000	0.24374|0.24374	0.318000|0.318000	0.28184|0.28184	0.145000|0.145000	0.16157|0.16157	0.093000|0.093000	0.17368|0.17368	0.482000|0.482000	0.46254|0.46254	ATC|ATG		0.328	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599	Missense_Mutation	7	14	0	0	0	1	0	7	14				
TNFRSF21	27242	broad.mit.edu	37	6	47221257	47221257	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:47221257C>T	ENST00000296861.2	-	4	1637	c.1244G>A	c.(1243-1245)gGt>gAt	p.G415D		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	415	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GATATCGATACCTACACCAGA	0.433																																						ENST00000296861.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21						c.e4-1		tumor necrosis factor receptor superfamily, member 21							77.0	77.0	77.0					6																	47221257		2203	4300	6503	SO:0001630	splice_region_variant	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47221257C>T	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1244-1G>A	6.37:g.47221257C>T							p.G415_splice	NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	Lung(136;0.189)		4	1637	-			415			Death.		B2RDI9|Q0D2P5|Q96D86	Splice_Site	SNP	ENST00000296861.2	37	c.1243_splice	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	32	5.167695	0.94768	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	D	0.90133	-2.62	6.02	6.02	0.97574	Death (2);DEATH-like (1);	0.000000	0.85682	D	0.000000	D	0.91168	0.7218	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92455	0.5973	10	0.87932	D	0	.	20.1575	0.98120	0.0:1.0:0.0:0.0	.	415	O75509	TNR21_HUMAN	D	415;104	ENSP00000296861:G415D	ENSP00000296861:G415D	G	-	2	0	TNFRSF21	47329216	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.618000	0.83043	2.850000	0.98022	0.650000	0.86243	GGT		0.433	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452	Missense_Mutation	20	45	0	0	0	1	0	20	45				
MS4A2	2206	broad.mit.edu	37	11	59860322	59860322	+	Splice_Site	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:59860322G>C	ENST00000278888.3	+	4	480		c.e4+1			NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2						activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AACATATCTGGTGAGTTGCCC	0.348																																						ENST00000278888.3																			0				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17						c.e4+1		membrane-spanning 4-domains, subfamily A, member 2	Omalizumab(DB00043)						116.0	110.0	112.0					11																	59860322		2201	4295	6496	SO:0001630	splice_region_variant	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59860322G>C	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.378+1G>C	11.37:g.59860322G>C								NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN			4	480	+		all_epithelial(135;0.245)						Q54A81	Splice_Site	SNP	ENST00000278888.3	37		CCDS7980.1	.	.	.	.	.	.	.	.	.	.	G	9.401	1.077962	0.20227	.	.	ENSG00000149534	ENST00000278888	.	.	.	4.38	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7325	0.57204	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MS4A2	59616898	1.000000	0.71417	1.000000	0.80357	0.167000	0.22549	3.759000	0.55227	2.718000	0.92993	0.650000	0.86243	.		0.348	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1		Intron	13	20	0	0	0	1	0	13	20				
SNX7	51375	broad.mit.edu	37	1	99164286	99164286	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:99164286A>G	ENST00000306121.3	+	6	872	c.863A>G	c.(862-864)tAt>tGt	p.Y288C	SNX7_ENST00000529992.1_Missense_Mutation_p.Y233C|SNX7_ENST00000370189.5_Missense_Mutation_p.Y224C	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	224					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		ATGAAAGAATATGGCCCAATT	0.348																																						ENST00000370189.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13						c.(670-672)tAt>tGt		sorting nexin 7							59.0	59.0	59.0					1																	99164286		2203	4299	6502	SO:0001583	missense	51375				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr1:99164286A>G	AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.863A>G	1.37:g.99164286A>G	ENSP00000304429:p.Tyr288Cys					SNX7_ENST00000306121.3_Missense_Mutation_p.Y288C|SNX7_ENST00000529992.1_Missense_Mutation_p.Y233C	p.Y224C			Q9UNH6	SNX7_HUMAN		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)	7	1035	+		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)	224					A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	c.671A>G	CCDS755.2	.	.	.	.	.	.	.	.	.	.	A	11.95	1.792178	0.31685	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.33654	1.95;1.4;1.4	5.28	5.28	0.74379	.	0.362710	0.32918	N	0.005493	T	0.20780	0.0500	L	0.43152	1.355	0.47214	D	0.999351	B;B;B	0.27971	0.021;0.196;0.079	B;B;B	0.33339	0.011;0.162;0.067	T	0.11470	-1.0586	10	0.66056	D	0.02	-23.0728	11.2959	0.49277	0.8636:0.0:0.0:0.1364	.	233;288;224	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	C	224;233;288	ENSP00000359208:Y224C;ENSP00000434731:Y233C;ENSP00000304429:Y288C	ENSP00000304429:Y288C	Y	+	2	0	SNX7	98936874	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.937000	0.48979	2.132000	0.65825	0.454000	0.30748	TAT		0.348	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			17	17	0	0	0	1	0	17	17				
PID1	55022	broad.mit.edu	37	2	229890361	229890361	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:229890361G>T	ENST00000354069.6	-	3	770	c.740C>A	c.(739-741)tCc>tAc	p.S247Y	PID1_ENST00000409462.1_Missense_Mutation_p.S165Y|PID1_ENST00000392054.3_Missense_Mutation_p.S245Y|PID1_ENST00000392055.3_Missense_Mutation_p.S214Y|PID1_ENST00000482518.2_Intron			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	247	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S245F(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCCATCATCGGATTCCAATTC	0.498																																						ENST00000392054.3																			1	Substitution - Missense(1)	p.S245F(1)	lung(1)	breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(733-735)tCc>tAc		phosphotyrosine interaction domain containing 1							88.0	92.0	91.0					2																	229890361		2203	4300	6503	SO:0001583	missense	55022					cytoplasm		g.chr2:229890361G>T	AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.740C>A	2.37:g.229890361G>T	ENSP00000283937:p.Ser247Tyr					PID1_ENST00000354069.6_Missense_Mutation_p.S247Y|PID1_ENST00000392055.3_Missense_Mutation_p.S214Y|PID1_ENST00000482518.2_Intron|PID1_ENST00000409462.1_Missense_Mutation_p.S165Y	p.S245Y	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)	4	1073	-		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)	247			PID.		B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Missense_Mutation	SNP	ENST00000354069.6	37	c.734C>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.467964	0.84533	.	.	ENSG00000153823	ENST00000392054;ENST00000409462;ENST00000392055;ENST00000542363;ENST00000354069	.	.	.	5.96	5.96	0.96718	.	0.050814	0.85682	D	0.000000	T	0.62660	0.2446	N	0.22421	0.69	0.58432	D	0.999998	D;P;D;D	0.65815	0.972;0.924;0.995;0.991	B;B;P;P	0.61201	0.362;0.362;0.885;0.687	T	0.58228	-0.7673	8	.	.	.	-30.1697	19.3963	0.94608	0.0:0.0:1.0:0.0	.	165;214;245;247	Q7Z2X4-3;Q7Z2X4-4;Q7Z2X4-2;Q7Z2X4	.;.;.;PCLI1_HUMAN	Y	245;165;214;247;247	.	.	S	-	2	0	PID1	229598605	1.000000	0.71417	0.990000	0.47175	0.833000	0.47200	7.180000	0.77674	2.814000	0.96858	0.655000	0.94253	TCC		0.498	PID1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000331810.2	NM_017933		41	70	1	0	4.67007e-22	1	6.43235e-22	41	70				
TSSK2	23617	broad.mit.edu	37	22	19119173	19119173	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:19119173C>G	ENST00000399635.2	+	1	853	c.261C>G	c.(259-261)taC>taG	p.Y87*	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	87	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GACGGATCTACATCATCATGG	0.552																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(259-261)taC>taG		testis-specific serine kinase 2							81.0	65.0	70.0					22																	19119173		2203	4300	6503	SO:0001587	stop_gained	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119173C>G	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.261C>G	22.37:g.19119173C>G	ENSP00000382544:p.Tyr87*					DGCR14_ENST00000252137.6_3'UTR	p.Y87*	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	853	+	Colorectal(54;0.0993)		87			Protein kinase.		Q8IY55	Nonsense_Mutation	SNP	ENST00000399635.2	37	c.261C>G	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	C	42	9.170771	0.99089	.	.	ENSG00000206203	ENST00000399635	.	.	.	5.48	5.48	0.80851	.	0.000000	0.46758	D	0.000262	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1358	0.89618	0.0:1.0:0.0:0.0	.	.	.	.	X	87	.	ENSP00000382544:Y87X	Y	+	3	2	TSSK2	17499173	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.792000	0.55476	2.575000	0.86900	0.655000	0.94253	TAC		0.552	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			23	36	0	0	0	1	0	23	36				
SMO	6608	broad.mit.edu	37	7	128852125	128852125	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:128852125G>T	ENST00000249373.3	+	12	2477	c.2197G>T	c.(2197-2199)Gtc>Ttc	p.V733F	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	733					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GTGGACCCTGGTCTCCAACCC	0.667			Mis		skin basal cell																																	ENST00000249373.3				Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell		0				biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2197-2199)Gtc>Ttc		smoothened, frizzled family receptor							33.0	30.0	31.0					7																	128852125		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128852125G>T	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2197G>T	7.37:g.128852125G>T	ENSP00000249373:p.Val733Phe					RP11-286H14.8_ENST00000466717.1_RNA	p.V733F	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN			12	2477	+			733					A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.2197G>T	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.853759	0.51270	.	.	ENSG00000128602	ENST00000249373	T	0.80304	-1.36	5.41	5.41	0.78517	.	0.401707	0.27586	N	0.018716	T	0.73401	0.3582	N	0.19112	0.55	0.44643	D	0.997621	P	0.50943	0.94	P	0.47915	0.561	T	0.76873	-0.2798	10	0.66056	D	0.02	.	11.8256	0.52265	0.0839:0.0:0.9161:0.0	.	733	Q99835	SMO_HUMAN	F	733	ENSP00000249373:V733F	ENSP00000249373:V733F	V	+	1	0	SMO	128639361	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.128000	0.50492	2.520000	0.84964	0.591000	0.81541	GTC		0.667	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		8	27	1	0	0.00307968	1	0.0031709	8	27				
SCG5	6447	broad.mit.edu	37	15	32972061	32972061	+	Silent	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:32972061T>C	ENST00000300175.4	+	3	431	c.321T>C	c.(319-321)ttT>ttC	p.F107F	SCG5_ENST00000497208.1_Silent_p.F107F|SCG5_ENST00000413748.2_Silent_p.F107F|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000494364.1_Silent_p.F107F	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	107					intracellular protein transport (GO:0006886)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|regulation of hormone secretion (GO:0046883)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	enzyme inhibitor activity (GO:0004857)|GTP binding (GO:0005525)|unfolded protein binding (GO:0051082)			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		CTAAGGACTTTAGTGAGGATC	0.498																																						ENST00000300175.4																			0				lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(319-321)ttT>ttC		secretogranin V (7B2 protein)							157.0	157.0	157.0					15																	32972061		1913	4115	6028	SO:0001819	synonymous_variant	6447				intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding	g.chr15:32972061T>C	Y00757	CCDS45207.1, CCDS45208.1	15q13-q14	2006-03-20	2006-03-20	2006-03-20	ENSG00000166922	ENSG00000166922			10816	protein-coding gene	gene with protein product	"""prohormone convertase chaperone"""	173120	"""secretory granule, neuroendocrine protein 1 (7B2 protein)"""	SGNE1		8162254, 12646671	Standard	NM_003020		Approved	7B2, SgV	uc001zha.2	P05408	OTTHUMG00000159447	ENST00000300175.4:c.321T>C	15.37:g.32972061T>C						SCG5_ENST00000494364.1_Silent_p.F107F|SCG5_ENST00000497208.1_Silent_p.F107F|SCG5_ENST00000498069.1_3'UTR|SCG5_ENST00000413748.2_Silent_p.F107F	p.F107F	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)	3	431	+		all_lung(180;7.32e-08)	107					P01164|Q6FHD0|Q9BS38	Silent	SNP	ENST00000300175.4	37	c.321T>C	CCDS45207.1																																																																																				0.498	SCG5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355438.1	NM_003020		55	166	0	0	0	1	0	55	166				
KLRC1	3821	broad.mit.edu	37	12	10601978	10601978	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:10601978C>T	ENST00000359151.3	-	5	528	c.347G>A	c.(346-348)tGt>tAt	p.C116Y	KLRC1_ENST00000408006.3_Missense_Mutation_p.C98Y|KLRC1_ENST00000536188.1_Missense_Mutation_p.C116Y|KLRC1_ENST00000347831.5_Missense_Mutation_p.C98Y|KLRC1_ENST00000544822.1_Missense_Mutation_p.C116Y	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	116					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ACAATGGCCACAATGACGTGC	0.343																																						ENST00000544822.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(346-348)tGt>tAt		killer cell lectin-like receptor subfamily C, member 1							164.0	166.0	165.0					12																	10601978		2203	4300	6503	SO:0001583	missense	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10601978C>T	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.347G>A	12.37:g.10601978C>T	ENSP00000352064:p.Cys116Tyr					KLRC1_ENST00000359151.3_Missense_Mutation_p.C116Y|KLRC1_ENST00000536188.1_Missense_Mutation_p.C116Y|KLRC1_ENST00000408006.3_Missense_Mutation_p.C98Y|KLRC1_ENST00000347831.5_Missense_Mutation_p.C98Y	p.C116Y	NM_213658.2	NP_998823.1	P26715	NKG2A_HUMAN			6	734	-			116						Missense_Mutation	SNP	ENST00000359151.3	37	c.347G>A	CCDS8625.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637646	0.47049	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	4.46	4.46	0.54185	C-type lectin fold (1);C-type lectin-like (1);	0.000000	0.53938	D	0.000057	T	0.48696	0.1514	M	0.91663	3.23	0.19300	N	0.99997	D;D	0.89917	0.996;1.0	P;D	0.91635	0.848;0.999	T	0.49615	-0.8921	10	0.59425	D	0.04	.	12.9463	0.58373	0.0:1.0:0.0:0.0	.	98;116	P26715-2;P26715	.;NKG2A_HUMAN	Y	116;116;98;98;116	ENSP00000441432:C116Y;ENSP00000352064:C116Y;ENSP00000385304:C98Y;ENSP00000256965:C98Y;ENSP00000438038:C116Y	ENSP00000256965:C98Y	C	-	2	0	KLRC1	10493245	0.010000	0.17322	0.036000	0.18154	0.003000	0.03518	1.366000	0.34193	2.187000	0.69744	0.563000	0.77884	TGT		0.343	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259		82	130	0	0	0	1	0	82	130				
PHF3	23469	broad.mit.edu	37	6	64422299	64422299	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:64422299G>T	ENST00000262043.3	+	16	5155	c.4815G>T	c.(4813-4815)ttG>ttT	p.L1605F	PHF3_ENST00000393387.1_Missense_Mutation_p.L1605F			Q92576	PHF3_HUMAN	PHD finger protein 3	1605					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGAATAATTTGCAAGATAACC	0.328																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(4813-4815)ttG>ttT		PHD finger protein 3							64.0	60.0	62.0					6																	64422299		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64422299G>T	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.4815G>T	6.37:g.64422299G>T	ENSP00000262043:p.Leu1605Phe					PHF3_ENST00000393387.1_Missense_Mutation_p.L1605F	p.L1605F			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		16	5155	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1605					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.4815G>T	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	G	5.914	0.352724	0.11182	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.23950	1.88;1.88	5.98	-2.72	0.05968	.	1.187680	0.06598	N	0.753164	T	0.03915	0.0110	N	0.24115	0.695	0.20403	N	0.999903	P	0.39216	0.664	B	0.32289	0.143	T	0.30650	-0.9971	9	.	.	.	0.4074	4.029	0.09700	0.5388:0.1039:0.2522:0.105	.	1605	Q92576	PHF3_HUMAN	F	1605	ENSP00000262043:L1605F;ENSP00000377048:L1605F	.	L	+	3	2	PHF3	64480258	0.022000	0.18835	0.358000	0.25811	0.549000	0.35272	0.144000	0.16135	-0.149000	0.11215	0.591000	0.81541	TTG		0.328	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			23	37	1	0	3.62473e-10	1	4.22018e-10	23	37				
C9orf135	138255	broad.mit.edu	37	9	72521027	72521027	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:72521027C>T	ENST00000377197.3	+	6	752	c.665C>T	c.(664-666)aCt>aTt	p.T222I	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	222						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						TATCCCTTGACTAGTGGGCCT	0.338																																						ENST00000377197.3																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(664-666)aCt>aTt		chromosome 9 open reading frame 135							109.0	110.0	109.0					9																	72521027		2203	4300	6503	SO:0001583	missense	138255					integral to membrane		g.chr9:72521027C>T		CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.665C>T	9.37:g.72521027C>T	ENSP00000366402:p.Thr222Ile					C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	p.T222I	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN			6	752	+			222					A7E2U4|B2RN61	Missense_Mutation	SNP	ENST00000377197.3	37	c.665C>T	CCDS35041.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342347	0.24339	.	.	ENSG00000204711	ENST00000377197	.	.	.	6.17	4.29	0.51040	.	0.315193	0.27881	N	0.017472	T	0.43100	0.1232	L	0.48642	1.525	0.09310	N	0.999992	D	0.55605	0.972	P	0.50440	0.641	T	0.31475	-0.9942	9	0.52906	T	0.07	0.4936	9.0729	0.36504	0.0:0.7742:0.1466:0.0792	.	222	Q5VTT2	CI135_HUMAN	I	222	.	ENSP00000366402:T222I	T	+	2	0	C9orf135	71710847	0.017000	0.18338	0.015000	0.15790	0.023000	0.10783	0.574000	0.23714	1.586000	0.49944	0.655000	0.94253	ACT		0.338	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052591.1	NM_001010940		14	64	0	0	0	1	0	14	64				
FOS	2353	broad.mit.edu	37	14	75747367	75747367	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:75747367A>C	ENST00000303562.4	+	3	707	c.498A>C	c.(496-498)caA>caC	p.Q166H	FOS_ENST00000555242.1_Missense_Mutation_p.Q166H|FOS_ENST00000555686.1_Missense_Mutation_p.Q52H|FOS_ENST00000535987.1_Intron|FOS_ENST00000555347.1_Missense_Mutation_p.Q18H	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	166	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	ATACACTCCAAGCGGTAGGTA	0.478																																						ENST00000303562.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(496-498)caA>caC		FBJ murine osteosarcoma viral oncogene homolog							49.0	58.0	55.0					14																	75747367		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75747367A>C	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.498A>C	14.37:g.75747367A>C	ENSP00000306245:p.Gln166His					FOS_ENST00000555686.1_Missense_Mutation_p.Q52H|FOS_ENST00000555242.1_Missense_Mutation_p.Q166H|FOS_ENST00000535987.1_Intron|FOS_ENST00000555347.1_Missense_Mutation_p.Q18H	p.Q166H	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	3	707	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	166			Leucine-zipper.		A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.498A>C	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.939386	0.52972	.	.	ENSG00000170345	ENST00000303562;ENST00000555242;ENST00000555686;ENST00000557139;ENST00000555347	T;T;T;T;T	0.78126	0.45;0.45;0.45;-1.15;0.45	5.07	2.66	0.31614	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.83041	0.5168	M	0.69523	2.12	0.58432	D	0.999995	D	0.54397	0.966	P	0.60345	0.873	T	0.81826	-0.0754	10	0.87932	D	0	-13.7771	8.7546	0.34637	0.7696:0.0:0.2304:0.0	.	166	P01100	FOS_HUMAN	H	166;166;52;82;18	ENSP00000306245:Q166H;ENSP00000452386:Q166H;ENSP00000452590:Q52H;ENSP00000451786:Q82H;ENSP00000450886:Q18H	ENSP00000306245:Q166H	Q	+	3	2	FOS	74817120	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.382000	0.52463	0.338000	0.23692	0.460000	0.39030	CAA		0.478	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		21	32	0	0	0	1	0	21	32				
VTA1	51534	broad.mit.edu	37	6	142525193	142525193	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:142525193A>G	ENST00000367630.4	+	7	827	c.769A>G	c.(769-771)Att>Gtt	p.I257V	VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Missense_Mutation_p.I199V	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	257	Interaction with VPS4B. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTTCAATACAATTTCCCAGGG	0.373																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(769-771)Att>Gtt		vesicle (multivesicular body) trafficking 1							136.0	120.0	126.0					6																	142525193		2203	4300	6503	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142525193A>G	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.769A>G	6.37:g.142525193A>G	ENSP00000356602:p.Ile257Val					VTA1_ENST00000452973.2_Intron|VTA1_ENST00000367621.1_Missense_Mutation_p.I199V	p.I257V	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	7	827	+	Breast(32;0.155)		257			Interaction with VPS4B (By similarity).		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.769A>G	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376695	0.24857	.	.	ENSG00000009844	ENST00000367630;ENST00000367621	T;T	0.41758	0.99;0.99	5.66	-3.2	0.05156	.	1.433700	0.03964	N	0.290528	T	0.07683	0.0193	N	0.03194	-0.395	0.09310	N	0.999996	B	0.02656	0.0	B	0.10450	0.005	T	0.20306	-1.0279	10	0.25106	T	0.35	-8.2957	12.8313	0.57748	0.8136:0.0:0.1864:0.0	.	257	Q9NP79	VTA1_HUMAN	V	257;199	ENSP00000356602:I257V;ENSP00000356593:I199V	ENSP00000356593:I199V	I	+	1	0	VTA1	142566886	0.303000	0.24463	0.479000	0.27329	0.989000	0.77384	-0.325000	0.07976	-0.490000	0.06707	0.460000	0.39030	ATT		0.373	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		22	40	0	0	0	1	0	22	40				
CPPED1	55313	broad.mit.edu	37	16	12798821	12798821	+	Missense_Mutation	SNP	G	G	T	rs529007917		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:12798821G>T	ENST00000381774.4	-	3	615	c.375C>A	c.(373-375)agC>agA	p.S125R	CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	125	Catalytic.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CATGGTTGCCGCTGACAAGGA	0.637																																						ENST00000381774.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						c.(373-375)agC>agA		calcineurin-like phosphoesterase domain containing 1							67.0	71.0	70.0					16																	12798821		2090	4216	6306	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12798821G>T	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.375C>A	16.37:g.12798821G>T	ENSP00000371193:p.Ser125Arg					CPPED1_ENST00000433677.2_Intron|CPPED1_ENST00000261660.4_Intron	p.S125R	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN			3	615	-			125					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.375C>A	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073021	0.36566	.	.	ENSG00000103381	ENST00000381774	D	0.82255	-1.59	5.7	-5.86	0.02304	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.87128	0.6100	M	0.84082	2.675	0.80722	D	1	P	0.39376	0.67	P	0.53006	0.715	D	0.85874	0.1418	10	0.52906	T	0.07	-24.0352	15.1523	0.72709	0.7117:0.0:0.2883:0.0	.	125	Q9BRF8	CPPED_HUMAN	R	125	ENSP00000371193:S125R	ENSP00000371193:S125R	S	-	3	2	CPPED1	12706322	0.203000	0.23435	0.840000	0.33206	0.008000	0.06430	-0.339000	0.07832	-1.001000	0.03434	-0.781000	0.03364	AGC		0.637	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		29	75	1	0	3.65163e-15	1	4.66029e-15	29	75				
ZNF347	84671	broad.mit.edu	37	19	53645668	53645668	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:53645668G>A	ENST00000334197.7	-	5	481	c.413C>T	c.(412-414)aCa>aTa	p.T138I	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000452676.2_Missense_Mutation_p.T139I|ZNF347_ENST00000601469.2_Missense_Mutation_p.T139I	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGCCATGTGTATTTTTCTG	0.418																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(415-417)aCa>aTa		zinc finger protein 347							146.0	127.0	133.0					19																	53645668		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53645668G>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.413C>T	19.37:g.53645668G>A	ENSP00000334146:p.Thr138Ile					ZNF347_ENST00000334197.7_Missense_Mutation_p.T138I|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.T139I	p.T139I	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	842	-			138					B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.416C>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.074316	0.00379	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.05996	3.36;3.36	2.44	-1.61	0.08399	.	.	.	.	.	T	0.01592	0.0051	N	0.00729	-1.24	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.44298	-0.9337	9	0.34782	T	0.22	.	2.1223	0.03729	0.3982:0.0:0.3458:0.2559	.	139;138	G5E9N4;Q96SE7	.;ZN347_HUMAN	I	138;139	ENSP00000334146:T138I;ENSP00000405218:T139I	ENSP00000334146:T138I	T	-	2	0	ZNF347	58337480	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.242000	0.02908	-0.208000	0.10171	-0.440000	0.05779	ACA		0.418	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		45	59	0	0	0	1	0	45	59				
LRRC16A	55604	broad.mit.edu	37	6	25551136	25551136	+	Splice_Site	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:25551136A>T	ENST00000329474.6	+	27	2696		c.e27-1			NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A						actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCTGCATTGCAGGCGTTGCTT	0.488																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.e27-1		leucine rich repeat containing 16A							136.0	132.0	133.0					6																	25551136		2044	4199	6243	SO:0001630	splice_region_variant	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25551136A>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2329-1A>T	6.37:g.25551136A>T								NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			27	2696	+								B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Splice_Site	SNP	ENST00000329474.6	37		CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.748203	0.89663	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7052	0.77573	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC16A	25659115	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.681000	0.91228	2.098000	0.63641	0.528000	0.53228	.		0.488	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640	Intron	51	88	0	0	0	1	0	51	88				
RASGRF1	5923	broad.mit.edu	37	15	79356840	79356840	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:79356840T>C	ENST00000419573.3	-	2	579	c.305A>G	c.(304-306)gAg>gGg	p.E102G	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E102G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	102	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTTCTGGTTCTCATGGCTGAA	0.493																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(304-306)gAg>gGg		Ras protein-specific guanine nucleotide-releasing factor 1							300.0	244.0	263.0					15																	79356840		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79356840T>C	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.305A>G	15.37:g.79356840T>C	ENSP00000405963:p.Glu102Gly					RASGRF1_ENST00000558480.2_Missense_Mutation_p.E102G|RASGRF1_ENST00000560334.1_5'UTR	p.E102G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			2	579	-			102			PH 1.		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.305A>G	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	T	18.66	3.672247	0.67928	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.12361	2.69	4.95	4.95	0.65309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.118924	0.56097	D	0.000032	T	0.19805	0.0476	L	0.43598	1.365	0.80722	D	1	P;P;P;P	0.43412	0.661;0.806;0.806;0.768	P;P;P;B	0.48921	0.515;0.595;0.595;0.341	T	0.00706	-1.1601	10	0.87932	D	0	.	12.6008	0.56497	0.0:0.0:0.0:1.0	.	102;102;102;102	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	G	102	ENSP00000405963:E102G	ENSP00000378224:E102G	E	-	2	0	RASGRF1	77143895	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.209000	0.77916	2.072000	0.62099	0.459000	0.35465	GAG		0.493	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		4	217	0	0	0	1	0	4	217				
SSPO	23145	broad.mit.edu	37	7	149482235	149482235	+	RNA	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:149482235C>A	ENST00000378016.2	+	0	2909							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)			CGCTGTGTGCCTCCTGACCTC	0.637																																						ENST00000378016.2																			0													SCO-spondin							100.0	105.0	103.0					7																	149482235		2182	4281	6463			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482235C>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.149482235C>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	2909	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				53	59	1	0	1.63038e-21	1	2.23297e-21	53	59				
OR2G2	81470	broad.mit.edu	37	1	247752567	247752567	+	Silent	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:247752567G>C	ENST00000320065.1	+	1	906	c.906G>C	c.(904-906)ggG>ggC	p.G302G	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGGTGAAAGGGGCATTAAAGA	0.363																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(904-906)ggG>ggC		olfactory receptor, family 2, subfamily G, member 2							75.0	81.0	79.0					1																	247752567		2203	4298	6501	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752567G>C	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.906G>C	1.37:g.247752567G>C						RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.G302G	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	906	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		302					Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.906G>C	CCDS31092.1																																																																																				0.363	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			36	174	0	0	0	1	0	36	174				
TERT	7015	broad.mit.edu	37	5	1272362	1272362	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:1272362G>T	ENST00000310581.5	-	7	2377	c.2320C>A	c.(2320-2322)Cga>Aga	p.R774R	TERT_ENST00000508104.2_Intron|TERT_ENST00000296820.5_Intron|TERT_ENST00000334602.6_Silent_p.R774R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	774	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	ACGAACTGTCGCATGTACGGC	0.642									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(2320-2322)Cga>Aga		telomerase reverse transcriptase							33.0	39.0	37.0					5																	1272362		2069	4198	6267	SO:0001819	synonymous_variant	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1272362G>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2320C>A	5.37:g.1272362G>T						TERT_ENST00000508104.2_Intron|TERT_ENST00000334602.6_Silent_p.R774R|TERT_ENST00000296820.5_Intron	p.R774R	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		7	2377	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		774			Reverse transcriptase.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.2320C>A	CCDS3861.2																																																																																				0.642	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	42	1	0	3.59834e-05	1	3.86861e-05	5	42				
FAT2	2196	broad.mit.edu	37	5	150911310	150911310	+	Missense_Mutation	SNP	C	C	A	rs537648951		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:150911310C>A	ENST00000261800.5	-	13	9661	c.9649G>T	c.(9649-9651)Gtg>Ttg	p.V3217L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3217	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGGAACACGGGCAGGTAG	0.677																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(9649-9651)Gtg>Ttg		FAT atypical cadherin 2							81.0	67.0	72.0					5																	150911310		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150911310C>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.9649G>T	5.37:g.150911310C>A	ENSP00000261800:p.Val3217Leu						p.V3217L	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		13	9661	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3217			Cadherin 28.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.9649G>T	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.82|15.82	2.945528|2.945528	0.53079|0.53079	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.39997	.|1.05	5.34|5.34	3.55|3.55	0.40652|0.40652	.|Cadherin (2);Cadherin-like (1);	.|0.399464	.|0.21289	.|N	.|0.077007	T|T	0.33876|0.33876	0.0878|0.0878	L|L	0.49640|0.49640	1.575|1.575	0.31393|0.31393	N|N	0.677591|0.677591	.|B	.|0.24426	.|0.103	.|B	.|0.20577	.|0.03	T|T	0.31558|0.31558	-0.9939|-0.9939	5|10	.|0.24483	.|T	.|0.36	.|.	9.3702|9.3702	0.38250|0.38250	0.0:0.7685:0.0:0.2315|0.0:0.7685:0.0:0.2315	.|.	.|3217	.|Q9NYQ8	.|FAT2_HUMAN	L|L	75|3217	.|ENSP00000261800:V3217L	.|ENSP00000261800:V3217L	R|V	-|-	2|1	0|0	FAT2|FAT2	150891503|150891503	0.936000|0.936000	0.31750|0.31750	0.818000|0.818000	0.32626|0.32626	0.977000|0.977000	0.68977|0.68977	2.040000|2.040000	0.41203|0.41203	0.625000|0.625000	0.30304|0.30304	0.555000|0.555000	0.69702|0.69702	CGT|GTG		0.677	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		53	25	1	0	2.72333e-11	1	3.25907e-11	53	25				
RIMS2	9699	broad.mit.edu	37	8	105261717	105261717	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:105261717G>T	ENST00000436393.2	+	26	3887	c.3646G>T	c.(3646-3648)Gac>Tac	p.D1216Y	RIMS2_ENST00000406091.3_Missense_Mutation_p.D1198Y|RIMS2_ENST00000507740.1_Missense_Mutation_p.D1012Y|RIMS2_ENST00000339750.2_Missense_Mutation_p.D134Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1037Y			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1260					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCATTAGGTGACATTCAGGT	0.433										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3034-3036)Gac>Tac		regulating synaptic membrane exocytosis 2							64.0	64.0	64.0					8																	105261717		1866	4083	5949	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105261717G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3646G>T	8.37:g.105261717G>T	ENSP00000390665:p.Asp1216Tyr	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.D1216Y|RIMS2_ENST00000262231.10_Missense_Mutation_p.D1037Y|RIMS2_ENST00000339750.2_Missense_Mutation_p.D134Y|RIMS2_ENST00000406091.3_Missense_Mutation_p.D1198Y	p.D1012Y	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		20	3270	+			1260					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3034G>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.737837	0.89573	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.47528	2.46;2.13;2.12;0.84;2.34;2.08;2.06	5.6	5.6	0.85130	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.74809	0.3765	M	0.87758	2.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.998;0.997;0.99;0.99	T	0.78677	-0.2111	9	0.72032	D	0.01	.	19.6154	0.95632	0.0:0.0:1.0:0.0	.	1260;1216;1037;1012;1198	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	Y	1235;1198;1260;1037;1012;1205;1216;134;134	ENSP00000384892:D1198Y;ENSP00000262231:D1037Y;ENSP00000423559:D1012Y;ENSP00000386228:D1205Y;ENSP00000390665:D1216Y;ENSP00000428478:D134Y;ENSP00000342051:D134Y	ENSP00000262231:D1037Y	D	+	1	0	RIMS2	105330893	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.652000	0.90054	0.650000	0.86243	GAC		0.433	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		12	40	1	0	3.07112e-06	1	3.36119e-06	12	40				
AOC4P	90586	broad.mit.edu	37	17	41020792	41020792	+	RNA	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:41020792C>T	ENST00000585538.1	+	0	1631					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		CAGCATTCCCCTTTGGTGCTG	0.537																																						ENST00000585538.1																			0																																																			90586							g.chr17:41020792C>T			17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41020792C>T								NR_002773.1						0	1631	+									RNA	SNP	ENST00000585538.1	37																																																																																						0.537	AOC4P-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000452449.1			11	19	0	0	0	1	0	11	19				
KRT79	338785	broad.mit.edu	37	12	53227957	53227957	+	Missense_Mutation	SNP	G	G	T	rs142757937	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:53227957G>T	ENST00000330553.5	-	1	122	c.88C>A	c.(88-90)Cgc>Agc	p.R30S		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	30	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCTGGTGCGGGCCTGGGAC	0.647																																						ENST00000330553.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(88-90)Cgc>Agc		keratin 79							34.0	35.0	35.0					12																	53227957		2203	4299	6502	SO:0001583	missense	338785					keratin filament	structural molecule activity	g.chr12:53227957G>T	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.88C>A	12.37:g.53227957G>T	ENSP00000328358:p.Arg30Ser						p.R30S	NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN			1	122	-			30			Head.		Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	c.88C>A	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	G	6.811	0.518670	0.13005	.	.	ENSG00000185640	ENST00000330553	T	0.75050	-0.9	3.98	3.98	0.46160	.	0.861244	0.10047	N	0.722716	T	0.59783	0.2219	N	0.11201	0.11	0.28695	N	0.904395	B	0.23650	0.089	B	0.25759	0.063	T	0.53940	-0.8367	10	0.42905	T	0.14	.	14.3612	0.66773	0.0:0.0:1.0:0.0	.	30	Q5XKE5	K2C79_HUMAN	S	30	ENSP00000328358:R30S	ENSP00000328358:R30S	R	-	1	0	KRT79	51514224	0.836000	0.29430	0.117000	0.21633	0.056000	0.15407	2.603000	0.46266	2.530000	0.85305	0.655000	0.94253	CGC		0.647	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		30	51	1	0	4.22769e-11	1	5.05109e-11	30	51				
AXDND1	126859	broad.mit.edu	37	1	179452356	179452356	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:179452356C>T	ENST00000367618.3	+	18	2478	c.2091C>T	c.(2089-2091)caC>caT	p.H697H	AL160286.1_ENST00000600581.1_Intron|AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	697										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTCAGCACCACGTATGTACTT	0.373																																						ENST00000367618.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.e18+1		axonemal dynein light chain domain containing 1							120.0	115.0	117.0					1																	179452356		2203	4300	6503	SO:0001630	splice_region_variant	126859							g.chr1:179452356C>T	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2091+1C>T	1.37:g.179452356C>T						AL160286.1_ENST00000600581.1_Intron|AXDND1_ENST00000457238.2_3'UTR	p.H697_splice	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN			18	2478	+			697					Q6AWB2|Q96LJ3|Q96M01	Splice_Site	SNP	ENST00000367618.3	37	c.2091_splice	CCDS30948.1																																																																																				0.373	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	NM_144696	Silent	7	116	0	0	0	1	0	7	116				
RPL31P11	641311	broad.mit.edu	37	1	161654957	161654957	+	RNA	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:161654957G>A	ENST00000426558.1	-	0	85					NR_002595.1				ribosomal protein L31 pseudogene 11																		GTTGATGGCAGAACGGCCCTT	0.547																																						ENST00000426558.1																			0																																																			641311							g.chr1:161654957G>A			1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654957G>A								NR_002595.1						0	85	-									RNA	SNP	ENST00000426558.1	37																																																																																						0.547	RPL31P11-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347090.2	NR_002595		12	29	0	0	0	1	0	12	29				
F13B	2165	broad.mit.edu	37	1	197029575	197029575	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:197029575A>G	ENST00000367412.1	-	5	769	c.726T>C	c.(724-726)caT>caC	p.H242H		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	242	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AATAATTTTCATGACAGAAAA	0.303																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(724-726)caT>caC		coagulation factor XIII, B polypeptide							68.0	76.0	73.0					1																	197029575		2203	4295	6498	SO:0001819	synonymous_variant	2165				blood coagulation	extracellular region		g.chr1:197029575A>G	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.726T>C	1.37:g.197029575A>G							p.H242H	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			5	769	-			242			Sushi 4.		A8K3E5|Q5VYL5	Silent	SNP	ENST00000367412.1	37	c.726T>C	CCDS1388.1																																																																																				0.303	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		16	67	0	0	0	1	0	16	67				
XIRP2	129446	broad.mit.edu	37	2	168100279	168100279	+	Silent	SNP	C	C	A	rs374843236		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:168100279C>A	ENST00000409195.1	+	9	2466	c.2377C>A	c.(2377-2379)Cga>Aga	p.R793R	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.R571R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.R793R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	618					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R793*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAGTTGTCCGAGGAATATC	0.403																																						ENST00000409195.1																			1	Substitution - Nonsense(1)	p.R793*(1)	upper_aerodigestive_tract(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2377-2379)Cga>Aga		xin actin-binding repeat containing 2							71.0	69.0	70.0					2																	168100279		1850	4091	5941	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100279C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2377C>A	2.37:g.168100279C>A						XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.R793R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.R571R|XIRP2_ENST00000409756.2_Intron	p.R793R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2466	+			618					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.2377C>A	CCDS42769.1																																																																																				0.403	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		32	63	1	0	2.85442e-18	1	3.79549e-18	32	63				
IFT122	55764	broad.mit.edu	37	3	129183607	129183607	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:129183607C>T	ENST00000348417.2	+	7	623	c.546C>T	c.(544-546)atC>atT	p.I182I	IFT122_ENST00000507564.1_Silent_p.I233I|IFT122_ENST00000440957.2_Silent_p.I32I|IFT122_ENST00000504021.1_Silent_p.I135I|IFT122_ENST00000347300.2_Silent_p.I182I|IFT122_ENST00000296266.3_Silent_p.I233I|IFT122_ENST00000431818.2_Silent_p.I32I|IFT122_ENST00000349441.2_Silent_p.I130I	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	182					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATGGTCCATCTGCTGGAACC	0.488																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(697-699)atC>atT		intraflagellar transport 122 homolog (Chlamydomonas)							90.0	97.0	94.0					3																	129183607		2203	4300	6503	SO:0001819	synonymous_variant	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129183607C>T	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.546C>T	3.37:g.129183607C>T						IFT122_ENST00000504021.1_Silent_p.I135I|IFT122_ENST00000440957.2_Silent_p.I32I|IFT122_ENST00000431818.2_Silent_p.I32I|IFT122_ENST00000347300.2_Silent_p.I182I|IFT122_ENST00000507564.1_Silent_p.I233I|IFT122_ENST00000348417.2_Silent_p.I182I|IFT122_ENST00000349441.2_Silent_p.I130I	p.I233I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			8	891	+			182					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Silent	SNP	ENST00000348417.2	37	c.699C>T	CCDS3061.1																																																																																				0.488	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		25	114	0	0	0	1	0	25	114				
ADAM22	53616	broad.mit.edu	37	7	87765302	87765302	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:87765302T>A	ENST00000265727.7	+	14	1255	c.1176T>A	c.(1174-1176)tgT>tgA	p.C392*	ADAM22_ENST00000398201.4_Nonsense_Mutation_p.C392*|ADAM22_ENST00000398204.4_Nonsense_Mutation_p.C392*|ADAM22_ENST00000315984.7_Nonsense_Mutation_p.C392*|ADAM22_ENST00000398209.3_Nonsense_Mutation_p.C392*			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	392	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TAGGTGAATGTAAATGCGAGG	0.378																																						ENST00000398204.4																			0				endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53						c.(1174-1176)tgT>tgA		ADAM metallopeptidase domain 22							168.0	159.0	162.0					7																	87765302		1884	4109	5993	SO:0001587	stop_gained	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87765302T>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1176T>A	7.37:g.87765302T>A	ENSP00000265727:p.Cys392*					ADAM22_ENST00000398209.3_Nonsense_Mutation_p.C392*|ADAM22_ENST00000398201.4_Nonsense_Mutation_p.C392*|ADAM22_ENST00000315984.7_Nonsense_Mutation_p.C392*|ADAM22_ENST00000265727.7_Nonsense_Mutation_p.C392*	p.C392*	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		14	1499	+	Esophageal squamous(14;0.00202)		392			Peptidase M12B.		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Nonsense_Mutation	SNP	ENST00000265727.7	37	c.1176T>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	T	36	5.905017	0.97087	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	.	.	.	4.83	3.69	0.42338	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.175	0.25738	0.0:0.2443:0.0:0.7557	.	.	.	.	X	392;392;392;392;392;359	.	ENSP00000265727:C392X	C	+	3	2	ADAM22	87603238	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.980000	0.29513	0.886000	0.36113	0.383000	0.25322	TGT		0.378	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		20	31	0	0	0	1	0	20	31				
CAMSAP3	57662	broad.mit.edu	37	19	7677154	7677154	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:7677154C>T	ENST00000160298.4	+	11	1876	c.1775C>T	c.(1774-1776)cCg>cTg	p.P592L	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.P619L	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	592					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						ACTCCGGCCCCGCCGGAGGCC	0.627																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(1855-1857)cCg>cTg		calmodulin regulated spectrin-associated protein family, member 3							5.0	7.0	6.0					19																	7677154		1799	3955	5754	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7677154C>T	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1775C>T	19.37:g.7677154C>T	ENSP00000160298:p.Pro592Leu					CAMSAP3_ENST00000160298.4_Missense_Mutation_p.P592L	p.P619L	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			13	1957	+			592					Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.1856C>T	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	c	5.216	0.225344	0.09916	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.15603	2.42;2.41	3.96	2.82	0.32997	.	0.532228	0.16712	U	0.202646	T	0.13841	0.0335	L	0.34521	1.04	0.19575	N	0.999967	B;B	0.22604	0.036;0.072	B;B	0.16722	0.01;0.016	T	0.20438	-1.0275	10	0.72032	D	0.01	-4.1985	11.7706	0.51956	0.0:0.8201:0.1799:0.0	.	592;619	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	L	619;592	ENSP00000416797:P619L;ENSP00000160298:P592L	ENSP00000160298:P592L	P	+	2	0	KIAA1543	7583154	0.364000	0.24997	0.024000	0.17045	0.012000	0.07955	2.028000	0.41088	1.743000	0.51761	0.544000	0.68410	CCG		0.627	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		3	7	0	0	0	1	0	3	7				
SLCO5A1	81796	broad.mit.edu	37	8	70744247	70744247	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:70744247G>T	ENST00000260126.4	-	2	1368	c.662C>A	c.(661-663)cCc>cAc	p.P221H	RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P221H|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P221H|RP11-159H10.3_ENST00000533300.1_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GATCTGGTAGGGGGGCGAGAT	0.677																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(661-663)cCc>cAc		solute carrier organic anion transporter family, member 5A1							22.0	27.0	25.0					8																	70744247		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744247G>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.662C>A	8.37:g.70744247G>T	ENSP00000260126:p.Pro221His					SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P221H|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P221H|SLCO5A1_ENST00000528658.1_5'UTR	p.P221H	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1368	-	Breast(64;0.0654)		221					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.662C>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248825	0.80024	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.58210	0.35;0.35;0.35	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.71609	0.3360	M	0.66560	2.04	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.991;0.99;0.991	T	0.68723	-0.5333	10	0.36615	T	0.2	.	19.377	0.94514	0.0:0.0:1.0:0.0	.	221;221;221;221	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	H	221	ENSP00000260126:P221H;ENSP00000434422:P221H;ENSP00000431611:P221H	ENSP00000260126:P221H	P	-	2	0	SLCO5A1	70906801	1.000000	0.71417	0.742000	0.31022	0.984000	0.73092	9.864000	0.99589	2.586000	0.87340	0.561000	0.74099	CCC		0.677	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		13	37	1	0	1.61879e-10	1	1.90908e-10	13	37				
PODN	127435	broad.mit.edu	37	1	53544461	53544461	+	Missense_Mutation	SNP	C	C	A	rs145236540		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:53544461C>A	ENST00000312553.5	+	8	1430	c.1423C>A	c.(1423-1425)Cgc>Agc	p.R475S	PODN_ENST00000395871.2_Missense_Mutation_p.R333S|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000371500.3_Missense_Mutation_p.R456S	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	427					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)	p.R475C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGACGCCTTCCGCAAGCTGCG	0.642																																						ENST00000371500.3																			1	Substitution - Missense(1)	p.R475C(1)	lung(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1366-1368)Cgc>Agc		podocan							94.0	76.0	82.0					1																	53544461		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53544461C>A	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.1423C>A	1.37:g.53544461C>A	ENSP00000308315:p.Arg475Ser					PODN_ENST00000312553.5_Missense_Mutation_p.R475S|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Missense_Mutation_p.R333S	p.R456S	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN			10	1707	+			427					B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.1366C>A	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802900	0.70682	.	.	ENSG00000174348	ENST00000371500;ENST00000395871;ENST00000312553	T;T;T	0.54866	0.55;0.55;0.55	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	N	0.01817	-0.705	0.49582	D	0.999802	P;P;B	0.42123	0.562;0.771;0.386	B;P;B	0.50570	0.277;0.644;0.366	T	0.46373	-0.9196	10	0.21014	T	0.42	.	18.0614	0.89378	0.0:1.0:0.0:0.0	.	333;456;475	Q7Z5L7-4;Q7Z5L7-2;Q7Z5L7-3	.;.;.	S	456;333;475	ENSP00000360555:R456S;ENSP00000379212:R333S;ENSP00000308315:R475S	ENSP00000308315:R475S	R	+	1	0	PODN	53317049	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.715000	0.61909	2.492000	0.84095	0.555000	0.69702	CGC		0.642	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1	NM_153703		31	98	1	0	4.74835e-14	1	5.89507e-14	31	98				
EPHA7	2045	broad.mit.edu	37	6	94066616	94066616	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:94066616G>T	ENST00000369303.4	-	5	1327	c.1143C>A	c.(1141-1143)ccC>ccA	p.P381P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TACTCCCACAGGGAACACATT	0.483																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1141-1143)ccC>ccA		EPH receptor A7							152.0	126.0	135.0					6																	94066616		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94066616G>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1143C>A	6.37:g.94066616G>T							p.P381P	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	5	1327	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	381			Fibronectin type-III 1.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.1143C>A	CCDS5031.1																																																																																				0.483	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			23	42	1	0	1.22574e-08	1	1.39375e-08	23	42				
DHX34	9704	broad.mit.edu	37	19	47865833	47865833	+	Silent	SNP	G	G	C	rs559259102		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:47865833G>C	ENST00000328771.4	+	6	1825	c.1476G>C	c.(1474-1476)gcG>gcC	p.A492A	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	492	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGGGCCGGGCGGGCCGCACGG	0.647																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1474-1476)gcG>gcC		DEAH (Asp-Glu-Ala-His) box polypeptide 34							20.0	23.0	22.0					19																	47865833		2203	4300	6503	SO:0001819	synonymous_variant	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47865833G>C	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1476G>C	19.37:g.47865833G>C						DHX34_ENST00000471451.1_Intron	p.A492A	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	6	1825	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	492			Helicase C-terminal.		B4DMY8	Silent	SNP	ENST00000328771.4	37	c.1476G>C	CCDS12700.1																																																																																				0.647	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		6	26	0	0	0	1	0	6	26				
PBX2	5089	broad.mit.edu	37	6	32157637	32157637	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:32157637C>G	ENST00000375050.4	-	1	326	c.56G>C	c.(55-57)gGa>gCa	p.G19A		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	19					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						ACTCACCAATCCCAggccccc	0.781																																						ENST00000375050.4																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(55-57)gGa>gCa		pre-B-cell leukemia homeobox 2							6.0	8.0	7.0					6																	32157637		1346	2496	3842	SO:0001583	missense	5089						transcription factor binding	g.chr6:32157637C>G		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.56G>C	6.37:g.32157637C>G	ENSP00000364190:p.Gly19Ala						p.G19A	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			1	326	-			19					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.56G>C	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835771	0.50951	.	.	ENSG00000204304	ENST00000375050	D	0.88741	-2.42	4.86	3.98	0.46160	.	0.615885	0.13294	N	0.398742	T	0.59088	0.2168	N	0.08118	0	0.35987	D	0.836454	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.38520	-0.9657	10	0.06236	T	0.91	-13.706	13.0082	0.58718	0.0:0.8365:0.1635:0.0	.	19;19	Q7KZE5;P40425	.;PBX2_HUMAN	A	19	ENSP00000364190:G19A	ENSP00000364190:G19A	G	-	2	0	PBX2	32265615	0.745000	0.28261	0.913000	0.36048	0.976000	0.68499	0.481000	0.22260	1.012000	0.39366	0.442000	0.29010	GGA		0.781	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			6	12	0	0	0	1	0	6	12				
CWC25	54883	broad.mit.edu	37	17	36958448	36958448	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:36958448A>G	ENST00000225428.5	-	10	1472	c.1175T>C	c.(1174-1176)cTg>cCg	p.L392P	PIP4K2B_ENST00000269554.3_5'Flank|CWC25_ENST00000536127.1_Missense_Mutation_p.L329P|PIP4K2B_ENST00000311500.6_5'Flank	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	392										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TGCACTCTCCAGCTTCATGCG	0.443																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(1174-1176)cTg>cCg		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							55.0	52.0	53.0					17																	36958448		1906	4126	6032	SO:0001583	missense	54883							g.chr17:36958448A>G	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1175T>C	17.37:g.36958448A>G	ENSP00000225428:p.Leu392Pro					CWC25_ENST00000536127.1_Missense_Mutation_p.L329P	p.L392P	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			10	1472	-			392					A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	c.1175T>C	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152463	0.78001	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	T	0.74199	0.3685	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.72623	-0.4237	9	0.33940	T	0.23	.	13.7544	0.62928	1.0:0.0:0.0:0.0	.	329;392	B4DJK2;Q9NXE8	.;CWC25_HUMAN	P	392;329	.	ENSP00000225428:L392P	L	-	2	0	CWC25	34211974	1.000000	0.71417	0.990000	0.47175	0.994000	0.84299	8.217000	0.89766	2.127000	0.65507	0.460000	0.39030	CTG		0.443	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		11	23	0	0	0	1	0	11	23				
MPEG1	219972	broad.mit.edu	37	11	58978655	58978655	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:58978655T>A	ENST00000361050.3	-	1	1769	c.1684A>T	c.(1684-1686)Agc>Tgc	p.S562C		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	562						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGGTGCTGGCTGAAGCCCCCG	0.597																																						ENST00000361050.3																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1684-1686)Agc>Tgc		macrophage expressed 1							51.0	57.0	55.0					11																	58978655		1901	4119	6020	SO:0001583	missense	219972					integral to membrane		g.chr11:58978655T>A	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.1684A>T	11.37:g.58978655T>A	ENSP00000354335:p.Ser562Cys						p.S562C	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	1769	-		all_epithelial(135;0.125)	562					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.1684A>T	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895903	0.72639	.	.	ENSG00000197629	ENST00000361050	T	0.28666	1.6	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.56848	0.2013	M	0.77313	2.365	0.51767	D	0.999936	D	0.89917	1.0	D	0.87578	0.998	T	0.61720	-0.7005	10	0.87932	D	0	-37.1343	13.6608	0.62366	0.0:0.0:0.0:1.0	.	562	Q2M385	MPEG1_HUMAN	C	562	ENSP00000354335:S562C	ENSP00000354335:S562C	S	-	1	0	MPEG1	58735231	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	7.330000	0.79181	2.212000	0.71576	0.533000	0.62120	AGC		0.597	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		39	94	0	0	0	1	0	39	94				
SPECC1	92521	broad.mit.edu	37	17	20209394	20209394	+	Splice_Site	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:20209394T>A	ENST00000261503.5	+	14	3167	c.3116T>A	c.(3115-3117)cTg>cAg	p.L1039Q	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395530.2_Splice_Site_p.L958Q|SPECC1_ENST00000536879.1_Splice_Site_p.L379Q|SPECC1_ENST00000395527.4_Splice_Site_p.L1039Q	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	1039	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAACCCAGCCTGGTACGTATC	0.358																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.e12+1		sperm antigen with calponin homology and coiled-coil domains 1							152.0	145.0	148.0					17																	20209394		2203	4300	6503	SO:0001630	splice_region_variant	92521					nucleus		g.chr17:20209394T>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.3117+1T>A	17.37:g.20209394T>A						SPECC1_ENST00000395527.4_Splice_Site_p.L1039_splice|SPECC1_ENST00000536879.1_Splice_Site_p.L379_splice|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Splice_Site_p.L1039_splice	p.L958_splice	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	12	3081	+			1039					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Splice_Site	SNP	ENST00000261503.5	37	c.2874_splice	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.689573	0.68271	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	D;D	0.95980	-3.87;-3.87	4.5	4.5	0.54988	Calponin homology domain (5);	0.000000	0.64402	D	0.000008	D	0.98435	0.9479	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98688	1.0695	10	0.87932	D	0	-9.0478	10.5306	0.44975	0.0:0.0:0.0:1.0	.	1000;958;1039	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	Q	1000;1039;379;958	ENSP00000261503:L1039Q;ENSP00000438294:L379Q	ENSP00000261503:L1039Q	L	+	2	0	SPECC1	20149986	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	6.638000	0.74309	1.808000	0.52836	0.379000	0.24179	CTG		0.358	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	Missense_Mutation	44	60	0	0	0	1	0	44	60				
CPNE5	57699	broad.mit.edu	37	6	36742829	36742829	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:36742829G>T	ENST00000244751.2	-	10	1270	c.646C>A	c.(646-648)Cac>Aac	p.H216N		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	216	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCGGTCTTGTGGCAAATGGTG	0.532																																						ENST00000244751.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(646-648)Cac>Aac		copine V							170.0	137.0	148.0					6																	36742829		2203	4300	6503	SO:0001583	missense	57699							g.chr6:36742829G>T	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.646C>A	6.37:g.36742829G>T	ENSP00000244751:p.His216Asn						p.H216N	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN			10	1270	-			216			C2 2.		Q7Z6C8	Missense_Mutation	SNP	ENST00000244751.2	37	c.646C>A	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841643	0.71488	.	.	ENSG00000124772	ENST00000244751	T	0.40476	1.03	5.28	5.28	0.74379	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.86028	2.79	0.80722	D	1	D	0.53151	0.958	P	0.60541	0.876	T	0.66705	-0.5856	10	0.72032	D	0.01	.	16.3963	0.83605	0.0:0.0:1.0:0.0	.	216	Q9HCH3	CPNE5_HUMAN	N	216	ENSP00000244751:H216N	ENSP00000244751:H216N	H	-	1	0	CPNE5	36850807	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	7.433000	0.80362	2.464000	0.83262	0.448000	0.29417	CAC		0.532	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939		10	29	1	0	0.00829132	1	0.00844165	10	29				
BHLHE22	27319	broad.mit.edu	37	8	65494139	65494139	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:65494139G>C	ENST00000321870.1	+	1	1326	c.792G>C	c.(790-792)gaG>gaC	p.E264D	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	264	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CGCTGGACGAGCTGCGCGCGG	0.627																																					Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(790-792)gaG>gaC		basic helix-loop-helix family, member e22							23.0	23.0	23.0					8																	65494139		2201	4300	6501	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494139G>C	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.792G>C	8.37:g.65494139G>C	ENSP00000318799:p.Glu264Asp					RP11-21C4.1_ENST00000517909.1_RNA	p.E264D	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	1326	+			264			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000321870.1	37	c.792G>C	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114172	0.37339	.	.	ENSG00000180828	ENST00000321870	D	0.98362	-4.89	4.01	4.01	0.46588	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000003	D	0.94938	0.8363	N	0.13198	0.31	0.50313	D	0.999869	B	0.20550	0.046	B	0.37989	0.262	D	0.91174	0.4971	10	0.21014	T	0.42	0.8773	9.7519	0.40481	0.098:0.0:0.902:0.0	.	264	Q8NFJ8	BHE22_HUMAN	D	264	ENSP00000318799:E264D	ENSP00000318799:E264D	E	+	3	2	BHLHE22	65656693	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.414000	0.52693	2.036000	0.60181	0.313000	0.20887	GAG		0.627	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		8	31	0	0	0	1	0	8	31				
MUC16	94025	broad.mit.edu	37	19	9014624	9014624	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:9014624C>A	ENST00000397910.4	-	31	38554	c.38351G>T	c.(38350-38352)aGg>aTg	p.R12784M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12786	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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						TAGCTGCTCCCTGTCCACTCC	0.577																																						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.(38350-38352)aGg>aTg		mucin 16, cell surface associated							104.0	84.0	90.0					19																	9014624		1863	4076	5939	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9014624C>A	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.38351G>T	19.37:g.9014624C>A	ENSP00000381008:p.Arg12784Met						p.R12784M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			31	38554	-			12786	Missing (in Ref. 3; AAK74120).		SEA 5.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38351G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.88	1.476952	0.26511	.	.	ENSG00000181143	ENST00000397910	T	0.35973	1.28	3.03	1.98	0.26296	.	.	.	.	.	T	0.59500	0.2198	M	0.89287	3.02	.	.	.	D	0.76494	0.999	D	0.85130	0.997	T	0.66830	-0.5824	8	0.87932	D	0	.	5.3174	0.15862	0.0:0.8381:0.0:0.1619	.	12784	B5ME49	.	M	12784	ENSP00000381008:R12784M	ENSP00000381008:R12784M	R	-	2	0	MUC16	8875624	0.002000	0.14202	0.092000	0.20876	0.002000	0.02628	0.480000	0.22244	1.672000	0.50884	0.305000	0.20034	AGG		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		81	117	1	0	2.33925e-33	1	3.39493e-33	81	117				
PAPPA2	60676	broad.mit.edu	37	1	176526072	176526072	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:176526072G>C	ENST00000367662.3	+	2	1778	c.614G>C	c.(613-615)cGg>cCg	p.R205P	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R205P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	205					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R205P(4)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGAAGAGGCGGGCGGAAGAT	0.562																																						ENST00000367662.3																			4	Substitution - Missense(4)	p.R205P(4)	lung(4)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(613-615)cGg>cCg		pappalysin 2							95.0	104.0	101.0					1																	176526072		1989	4139	6128	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176526072G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.614G>C	1.37:g.176526072G>C	ENSP00000356634:p.Arg205Pro					PAPPA2_ENST00000367661.3_Missense_Mutation_p.R205P	p.R205P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1778	+			205					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.614G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	7.338	0.620243	0.14193	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.30714	4.75;1.52	3.71	0.888	0.19206	.	1.808090	0.03483	U	0.215405	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21793	-1.0235	10	0.52906	T	0.07	.	3.1772	0.06572	0.6723:0.0:0.1229:0.2048	.	205;205	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	P	205	ENSP00000356634:R205P;ENSP00000356633:R205P	ENSP00000356633:R205P	R	+	2	0	PAPPA2	174792695	0.904000	0.30761	0.519000	0.27824	0.067000	0.16453	0.440000	0.21592	0.002000	0.14630	-0.657000	0.03884	CGG		0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			40	143	0	0	0	1	0	40	143				
AKT3	10000	broad.mit.edu	37	1	243801040	243801040	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:243801040A>T	ENST00000366539.1	-	6	634	c.434T>A	c.(433-435)aTg>aAg	p.M145K	AKT3_ENST00000263826.5_Missense_Mutation_p.M145K|AKT3_ENST00000336199.5_Missense_Mutation_p.M145K|AKT3_ENST00000366540.1_Missense_Mutation_p.M145K			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	145					mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AAAATCATTCATTGTCTGAAA	0.279																																						ENST00000366539.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(433-435)aTg>aAg		v-akt murine thymoma viral oncogene homolog 3							53.0	52.0	52.0					1																	243801040		2200	4295	6495	SO:0001583	missense	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243801040A>T	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.434T>A	1.37:g.243801040A>T	ENSP00000355497:p.Met145Lys					AKT3_ENST00000263826.5_Missense_Mutation_p.M145K|AKT3_ENST00000366540.1_Missense_Mutation_p.M145K|AKT3_ENST00000336199.5_Missense_Mutation_p.M145K	p.M145K			Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		6	634	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	145					Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	ENST00000366539.1	37	c.434T>A	CCDS31077.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397453	0.83120	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.79	5.79	0.91817	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.37156	0.0993	N	0.08118	0	0.80722	D	1	P;P	0.48911	0.917;0.902	P;P	0.51582	0.474;0.674	T	0.46884	-0.9159	10	0.87932	D	0	.	16.1376	0.81497	1.0:0.0:0.0:0.0	.	145;145	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	K	145	ENSP00000336943:M145K;ENSP00000355498:M145K;ENSP00000355497:M145K;ENSP00000263826:M145K	ENSP00000263826:M145K	M	-	2	0	AKT3	241867663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.212000	0.71576	0.533000	0.62120	ATG		0.279	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		20	15	0	0	0	1	0	20	15				
GPR31	2853	broad.mit.edu	37	6	167571176	167571176	+	Silent	SNP	C	C	A	rs575627973		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:167571176C>A	ENST00000366834.1	-	1	641	c.144G>T	c.(142-144)ccG>ccT	p.P48P		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	48					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P48P(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGACAGCGTACGGCTTCCACA	0.652																																						ENST00000366834.1																			1	Substitution - coding silent(1)	p.P48P(1)	endometrium(1)	NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17						c.(142-144)ccG>ccT		G protein-coupled receptor 31							58.0	44.0	49.0					6																	167571176		2203	4300	6503	SO:0001819	synonymous_variant	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167571176C>A	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.144G>T	6.37:g.167571176C>A							p.P48P	NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	1	641	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	48					B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	ENST00000366834.1	37	c.144G>T	CCDS5299.1																																																																																				0.652	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		20	57	1	0	5.49717e-05	1	5.87545e-05	20	57				
ACSS3	79611	broad.mit.edu	37	12	81568637	81568637	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:81568637T>G	ENST00000548058.1	+	8	2079	c.1169T>G	c.(1168-1170)tTg>tGg	p.L390W	ACSS3_ENST00000261206.3_Missense_Mutation_p.L389W|ACSS3_ENST00000548324.1_Missense_Mutation_p.L72W			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	390						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTAGCTGCCTTGTTTACAGCA	0.507																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1168-1170)tTg>tGg		acyl-CoA synthetase short-chain family member 3							132.0	109.0	117.0					12																	81568637		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81568637T>G		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1169T>G	12.37:g.81568637T>G	ENSP00000449535:p.Leu390Trp					ACSS3_ENST00000261206.3_Missense_Mutation_p.L389W|ACSS3_ENST00000548324.1_Missense_Mutation_p.L72W	p.L390W			Q9H6R3	ACSS3_HUMAN			8	2079	+			390					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1169T>G	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546960	0.86022	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.51325	0.71;0.71;0.71	5.53	5.53	0.82687	AMP-dependent synthetase/ligase (1);	0.098992	0.64402	D	0.000004	T	0.68357	0.2992	M	0.78637	2.42	0.48571	D	0.999679	D;D	0.76494	0.998;0.999	D;D	0.65323	0.922;0.934	T	0.73228	-0.4049	10	0.87932	D	0	-10.7868	15.9582	0.79902	0.0:0.0:0.0:1.0	.	72;390	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	W	390;389;72	ENSP00000449535:L390W;ENSP00000261206:L389W;ENSP00000448965:L72W	ENSP00000261206:L389W	L	+	2	0	ACSS3	80092768	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.548000	0.60718	2.219000	0.72066	0.533000	0.62120	TTG		0.507	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		10	40	0	0	0	1	0	10	40				
CSMD2	114784	broad.mit.edu	37	1	34276392	34276392	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:34276392G>A	ENST00000338325.1	-	3	481	c.69C>T	c.(67-69)gaC>gaT	p.D23D	CSMD2_ENST00000373381.4_Silent_p.D466D			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	426						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGCATTGTTGTCATACTGAA	0.572																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1396-1398)gaC>gaT		CUB and Sushi multiple domains 2							130.0	127.0	128.0					1																	34276392		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34276392G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.69C>T	1.37:g.34276392G>A						CSMD2_ENST00000338325.1_Silent_p.D23D	p.D466D	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			10	1574	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	426			CUB 3.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000338325.1	37	c.1398C>T																																																																																					0.572	CSMD2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000036404.2	NM_052896		35	111	0	0	0	1	0	35	111				
TMEM175	84286	broad.mit.edu	37	4	951745	951745	+	Missense_Mutation	SNP	G	G	A	rs143946130		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:951745G>A	ENST00000264771.4	+	11	1161	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	TMEM175_ENST00000508204.1_Missense_Mutation_p.A244T|TMEM175_ENST00000515740.1_Missense_Mutation_p.A210T	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	326						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGTGGTTCGCCCACCACTC	0.677																																						ENST00000264771.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14						c.(976-978)Gcc>Acc		transmembrane protein 175		G	THR/ALA	2,4402	4.2+/-10.8	0,2,2200	35.0	36.0	35.0		976	2.9	0.9	4	dbSNP_134	35	0,8598		0,0,4299	no	missense	TMEM175	NM_032326.2	58	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	326/505	951745	2,13000	2202	4299	6501	SO:0001583	missense	84286					integral to membrane		g.chr4:951745G>A	BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.976G>A	4.37:g.951745G>A	ENSP00000264771:p.Ala326Thr					TMEM175_ENST00000515740.1_Missense_Mutation_p.A210T|TMEM175_ENST00000508204.1_Missense_Mutation_p.A244T	p.A326T	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		11	1161	+			326					D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	c.976G>A	CCDS3341.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.24|13.24	2.179044|2.179044	0.38511|0.38511	4.54E-4|4.54E-4	0.0|0.0	ENSG00000127419|ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204;ENST00000510493|ENST00000505148	T;T;T;T|.	0.44881|.	0.91;0.91;0.91;0.91|.	4.64|4.64	2.9|2.9	0.33743|0.33743	.|.	0.297136|.	0.31312|.	N|.	0.007870|.	T|T	0.29882|0.29882	0.0747|0.0747	N|N	0.25060|0.25060	0.705|0.705	0.27783|0.27783	N|N	0.943094|0.943094	D;D|.	0.64830|.	0.993;0.994|.	P;P|.	0.56163|.	0.775;0.793|.	T|T	0.20874|0.20874	-1.0262|-1.0262	10|5	0.18710|.	T|.	0.47|.	-0.8883|-0.8883	8.4172|8.4172	0.32678|0.32678	0.1939:0.0:0.8061:0.0|0.1939:0.0:0.8061:0.0	.|.	244;326|.	D3DVN5;Q9BSA9|.	.;TM175_HUMAN|.	T|H	326;210;244;244|162	ENSP00000264771:A326T;ENSP00000427039:A210T;ENSP00000423669:A244T;ENSP00000424208:A244T|.	ENSP00000264771:A326T|.	A|R	+|+	1|2	0|0	TMEM175|TMEM175	941745|941745	1.000000|1.000000	0.71417|0.71417	0.880000|0.880000	0.34516|0.34516	0.067000|0.067000	0.16453|0.16453	4.071000|4.071000	0.57556|0.57556	0.396000|0.396000	0.25283|0.25283	-0.339000|-0.339000	0.08088|0.08088	GCC|CGC		0.677	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326		8	48	0	0	0	1	0	8	48				
LILRB1	10859	broad.mit.edu	37	19	55146110	55146110	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:55146110G>C	ENST00000396331.1	+	11	1736	c.1379G>C	c.(1378-1380)gGg>gCg	p.G460A	LILRB1_ENST00000396327.3_Missense_Mutation_p.G461A|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444A|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460A|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Missense_Mutation_p.G444A|LILRB1_ENST00000396315.1_Missense_Mutation_p.G461A|LILRB1_ENST00000434867.2_Missense_Mutation_p.G460A|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461A|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460A|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510A|LILRB1_ENST00000448689.1_Missense_Mutation_p.G460A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	460					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGCACCTGGGGGTTGTGATC	0.572										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1378-1380)gGg>gCg		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							115.0	89.0	98.0					19																	55146110		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146110G>C	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1379G>C	19.37:g.55146110G>C	ENSP00000379622:p.Gly460Ala	HNSCC(37;0.09)				LILRB1_ENST00000396315.1_Missense_Mutation_p.G461A|LILRB1_ENST00000448689.1_Missense_Mutation_p.G460A|LILRB1_ENST00000396332.4_Missense_Mutation_p.G460A|LILRB1_ENST00000427581.2_Missense_Mutation_p.G510A|LILRB1_ENST00000418536.2_Missense_Mutation_p.G444A|LILRB1_ENST00000396321.2_Missense_Mutation_p.G460A|LILRB1_ENST00000396317.1_Missense_Mutation_p.G444A|LILRB1_ENST00000324602.7_Missense_Mutation_p.G461A|LILRB1_ENST00000396327.3_Missense_Mutation_p.G461A|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000434867.2_Missense_Mutation_p.G460A	p.G460A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1736	+			460					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1379G>C	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.374228	0.01214	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.00498	7.11;7.19;7.01;7.11;7.06;7.05;7.11;7.09;6.97;7.19;7.05	1.63	-0.732	0.11147	.	6.669080	0.00481	U	0.000123	T	0.00695	0.0023	M	0.81497	2.545	0.09310	N	1	B;B;B;B;B;B	0.32829	0.081;0.029;0.386;0.035;0.386;0.154	B;B;B;B;B;B	0.33620	0.071;0.01;0.167;0.028;0.167;0.08	T	0.55354	-0.8154	10	0.16896	T	0.51	.	4.304	0.10938	0.5473:0.0:0.4527:0.0	.	444;460;461;460;461;460	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	A	460;444;460;460;461;461;460;460;510;444;461	ENSP00000379614:G460A;ENSP00000391514:G444A;ENSP00000409968:G460A;ENSP00000379622:G460A;ENSP00000379618:G461A;ENSP00000315997:G461A;ENSP00000405243:G460A;ENSP00000379623:G460A;ENSP00000395004:G510A;ENSP00000379610:G444A;ENSP00000379608:G461A	ENSP00000315997:G461A	G	+	2	0	LILRB1	59837922	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.151000	0.03175	-0.277000	0.09193	0.205000	0.17691	GGG		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			17	34	0	0	0	1	0	17	34				
GANC	2595	broad.mit.edu	37	15	42632010	42632010	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:42632010A>C	ENST00000318010.8	+	17	2227	c.1987A>C	c.(1987-1989)Acc>Ccc	p.T663P		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	663					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	GGAGGAACACACCCGACTCAT	0.572																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1987-1989)Acc>Ccc		glucosidase, alpha; neutral C							68.0	55.0	60.0					15																	42632010		2203	4299	6502	SO:0001583	missense	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42632010A>C	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.1987A>C	15.37:g.42632010A>C	ENSP00000326227:p.Thr663Pro						p.T663P	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	17	2227	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	663					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	ENST00000318010.8	37	c.1987A>C	CCDS10084.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.751975	0.69533	.	.	ENSG00000214013	ENST00000318010	D	0.93307	-3.2	6.02	6.02	0.97574	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	M	0.92784	3.345	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.97562	1.0099	10	0.45353	T	0.12	-14.8812	16.542	0.84395	1.0:0.0:0.0:0.0	.	663	Q8TET4	GANC_HUMAN	P	663	ENSP00000326227:T663P	ENSP00000326227:T663P	T	+	1	0	GANC	40419302	1.000000	0.71417	0.991000	0.47740	0.326000	0.28443	8.829000	0.92055	2.304000	0.77564	0.528000	0.53228	ACC		0.572	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		6	81	0	0	0	1	0	6	81				
SLC12A1	6557	broad.mit.edu	37	15	48543856	48543856	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:48543856T>C	ENST00000558405.1	+	14	1845	c.1831T>C	c.(1831-1833)Ttt>Ctt	p.F611L	SLC12A1_ENST00000380993.3_Missense_Mutation_p.F611L|SLC12A1_ENST00000396577.3_Missense_Mutation_p.F611L			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	611					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGTATCTCTTTTTGGAGCTGT	0.418																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1831-1833)Ttt>Ctt		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						219.0	177.0	191.0					15																	48543856		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48543856T>C		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1831T>C	15.37:g.48543856T>C	ENSP00000453409:p.Phe611Leu					SLC12A1_ENST00000380993.3_Missense_Mutation_p.F611L|SLC12A1_ENST00000558405.1_Missense_Mutation_p.F611L	p.F611L	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	15	2046	+		all_lung(180;0.00219)	611					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1831T>C	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725541	0.30593	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.97994	-4.65;-4.65	6.01	6.01	0.97437	Amino acid permease domain (1);	0.192841	0.53938	D	0.000052	D	0.90659	0.7070	N	0.01679	-0.765	0.48762	D	0.999709	B;B	0.11235	0.004;0.001	B;B	0.16289	0.015;0.004	D	0.88104	0.2821	10	0.08837	T	0.75	.	16.5206	0.84315	0.0:0.0:0.0:1.0	.	611;611	E9PDW4;Q13621	.;S12A1_HUMAN	L	424;611;611	ENSP00000370381:F611L;ENSP00000379822:F611L	ENSP00000370381:F611L	F	+	1	0	SLC12A1	46331148	0.996000	0.38824	0.958000	0.39756	0.961000	0.63080	2.169000	0.42434	2.299000	0.77371	0.533000	0.62120	TTT		0.418	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			22	38	0	0	0	1	0	22	38				
PKLR	5313	broad.mit.edu	37	1	155271092	155271092	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:155271092G>A	ENST00000342741.4	-	1	133	c.95C>T	c.(94-96)cCa>cTa	p.P32L	PKLR_ENST00000392414.3_5'Flank	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	32					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTTACCTCCTGGAGCCCCAAT	0.502																																						ENST00000342741.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(94-96)cCa>cTa		pyruvate kinase, liver and RBC	Pyruvic acid(DB00119)						99.0	93.0	95.0					1																	155271092		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155271092G>A	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.95C>T	1.37:g.155271092G>A	ENSP00000339933:p.Pro32Leu						p.P32L	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		1	133	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		32					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.95C>T	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.484443	0.84854	.	.	ENSG00000143627	ENST00000423816;ENST00000342741	D	0.99656	-6.31	4.74	4.74	0.60224	.	0.000000	0.46442	D	0.000295	D	0.99221	0.9729	L	0.43152	1.355	0.46774	D	0.999197	D	0.71674	0.998	D	0.73708	0.981	D	0.98683	1.0693	10	0.72032	D	0.01	-12.3695	13.4018	0.60887	0.0:0.0:1.0:0.0	.	32	P30613	KPYR_HUMAN	L	32	ENSP00000339933:P32L	ENSP00000339933:P32L	P	-	2	0	PKLR	153537716	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.966000	0.56795	2.613000	0.88420	0.462000	0.41574	CCA		0.502	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		38	35	0	0	0	1	0	38	35				
TRDN	10345	broad.mit.edu	37	6	123545262	123545262	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:123545262C>T	ENST00000398178.3	-	39	2011	c.1990G>A	c.(1990-1992)Gta>Ata	p.V664I	TRDN_ENST00000334268.4_Missense_Mutation_p.V656I	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	664					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GAAGCTGGTACATCTTCAACA	0.323																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(1966-1968)Gta>Ata		triadin							89.0	85.0	86.0					6																	123545262		1819	4084	5903	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123545262C>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1990G>A	6.37:g.123545262C>T	ENSP00000381240:p.Val664Ile					TRDN_ENST00000398178.3_Missense_Mutation_p.V664I	p.V656I			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	38	2283	-			664					A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.1966G>A	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591571	0.28357	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.20332	2.08;2.08	4.38	1.5	0.22942	.	0.806060	0.10718	N	0.642120	T	0.03434	0.0099	N	0.19112	0.55	0.09310	N	1	B	0.25667	0.131	B	0.19666	0.026	T	0.41502	-0.9505	10	0.35671	T	0.21	-0.0106	3.1382	0.06446	0.2129:0.5647:0.0:0.2224	.	664	Q13061	TRDN_HUMAN	I	664;666;656	ENSP00000381240:V664I;ENSP00000333984:V656I	ENSP00000333984:V656I	V	-	1	0	TRDN	123586961	0.000000	0.05858	0.010000	0.14722	0.161000	0.22273	0.000000	0.12993	0.534000	0.28695	0.644000	0.83932	GTA		0.323	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				16	39	0	0	0	1	0	16	39				
SERTAD2	9792	broad.mit.edu	37	2	64863928	64863928	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:64863928G>A	ENST00000313349.3	-	2	375	c.78C>T	c.(76-78)gaC>gaT	p.D26D	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	26					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TGGATGGACCGTCACAGGGAG	0.493																																						ENST00000313349.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						c.(76-78)gaC>gaT		SERTA domain containing 2							152.0	138.0	143.0					2																	64863928		2203	4300	6503	SO:0001819	synonymous_variant	9792				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		g.chr2:64863928G>A	D50917	CCDS33210.1	2p15	2007-05-01			ENSG00000179833	ENSG00000179833			30784	protein-coding gene	gene with protein product	"""transcriptional regulator interacting with the PHS-bromodomain 2"""					8590280, 11331592	Standard	NM_014755		Approved	TRIP-Br2, KIAA0127, Sei-2	uc002sde.2	Q14140	OTTHUMG00000152678	ENST00000313349.3:c.78C>T	2.37:g.64863928G>A						SERTAD2_ENST00000476805.1_5'UTR	p.D26D	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN			2	375	-			26					Q53TS2	Silent	SNP	ENST00000313349.3	37	c.78C>T	CCDS33210.1																																																																																				0.493	SERTAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327322.2	NM_014755		66	148	0	0	0	1	0	66	148				
SEPT14	346288	broad.mit.edu	37	7	55874936	55874936	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:55874936T>C	ENST00000388975.3	-	8	949	c.833A>G	c.(832-834)cAc>cGc	p.H278R		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	278	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAGTCACAGTGATTTTCATT	0.318																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(832-834)cAc>cGc		septin 14							78.0	78.0	78.0					7																	55874936		2203	4300	6503	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55874936T>C	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.833A>G	7.37:g.55874936T>C	ENSP00000373627:p.His278Arg						p.H278R	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	949	-	Breast(14;0.214)		278					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.833A>G	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449860	0.63290	.	.	ENSG00000154997	ENST00000388975	T	0.54071	0.59	3.24	3.24	0.37175	.	0.000000	0.64402	D	0.000001	T	0.80869	0.4706	H	0.98559	4.265	0.48632	D	0.999683	D	0.89917	1.0	D	0.97110	1.0	D	0.85655	0.1285	10	0.87932	D	0	.	10.1685	0.42895	0.0:0.0:0.0:1.0	.	278	Q6ZU15	SEP14_HUMAN	R	278	ENSP00000373627:H278R	ENSP00000373627:H278R	H	-	2	0	SEPT14	55842430	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.131000	0.71670	1.720000	0.51447	0.455000	0.32223	CAC		0.318	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		25	22	0	0	0	1	0	25	22				
LRP12	29967	broad.mit.edu	37	8	105503749	105503749	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:105503749G>T	ENST00000276654.5	-	7	1840	c.1732C>A	c.(1732-1734)Ctg>Atg	p.L578M	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.L559M	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	578					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCTAGCCTCAGATTTTCCAAA	0.348																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1732-1734)Ctg>Atg		low density lipoprotein receptor-related protein 12							44.0	47.0	46.0					8																	105503749		2202	4300	6502	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503749G>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1732C>A	8.37:g.105503749G>T	ENSP00000276654:p.Leu578Met					LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.L559M	p.L578M	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	1840	-			578					A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1732C>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052656	0.75960	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.95238	-2.63;-2.57;-3.65	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.94833	0.8331	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.996	D	0.94441	0.7658	10	0.49607	T	0.09	-12.4198	14.6569	0.68838	0.0688:0.0:0.9312:0.0	.	559;578	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	M	559;578;167	ENSP00000399148:L559M;ENSP00000276654:L578M;ENSP00000429305:L167M	ENSP00000276654:L578M	L	-	1	2	LRP12	105572925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.731000	0.55013	2.857000	0.98124	0.650000	0.86243	CTG		0.348	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		44	33	1	0	5.48756e-27	1	7.73344e-27	44	33				
MSTO1	55154	broad.mit.edu	37	1	155582079	155582079	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:155582079G>T	ENST00000245564.2	+	8	809	c.785G>T	c.(784-786)gGc>gTc	p.G262V	MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|RP11-29H23.4_ENST00000456382.2_RNA|MSTO1_ENST00000368341.4_Missense_Mutation_p.G227V|MSTO1_ENST00000483734.1_3'UTR	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	262					mitochondrion distribution (GO:0048311)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					ATAACCTGGGGCCTGCTACCT	0.552																																						ENST00000245564.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(784-786)gGc>gTc		misato 1, mitochondrial distribution and morphology regulator							52.0	57.0	55.0					1																	155582079		2203	4300	6503	SO:0001583	missense	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155582079G>T	BX537684	CCDS1114.1	1q22	2013-08-21	2013-08-21		ENSG00000125459	ENSG00000125459			29678	protein-coding gene	gene with protein product			"""misato homolog 1 (Drosophila)"""			16545939, 17349998	Standard	NM_018116		Approved	FLJ10504, LST005, MST, misato	uc001fky.4	Q9BUK6	OTTHUMG00000014014	ENST00000245564.2:c.785G>T	1.37:g.155582079G>T	ENSP00000245564:p.Gly262Val					MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000368341.4_Missense_Mutation_p.G227V	p.G262V	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN			8	809	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		262					Q53GR8|Q5CZ69|Q5T717|Q68CT6|Q7LBZ8|Q7Z3M7|Q7Z558|Q8TE05|Q9NQX2|Q9NVU4	Missense_Mutation	SNP	ENST00000245564.2	37	c.785G>T	CCDS1114.1	.	.	.	.	.	.	.	.	.	.	.	16.61	3.170518	0.57584	.	.	ENSG00000125459	ENST00000245564;ENST00000368341	T;T	0.65732	-0.17;-0.17	3.17	3.17	0.36434	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	T	0.65080	0.2657	L	0.43152	1.355	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.997;0.998;1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.988;0.993;0.994;0.999;1.0;0.995;0.998;0.997	T	0.70590	-0.4830	10	0.72032	D	0.01	.	14.3947	0.67003	0.0:0.0:1.0:0.0	.	207;262;227;262;84;262;262;262	B4DLS9;A8K3J5;Q9BUK6-7;D3DVA3;Q9BUK6-5;Q9BUK6;Q9BUK6-2;Q9BUK6-3	.;.;.;.;.;MSTO1_HUMAN;.;.	V	262;227	ENSP00000245564:G262V;ENSP00000357325:G227V	ENSP00000245564:G262V	G	+	2	0	MSTO1	153848703	1.000000	0.71417	1.000000	0.80357	0.428000	0.31595	8.612000	0.90909	1.764000	0.52075	0.313000	0.20887	GGC		0.552	MSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039408.1	NM_018116		20	52	1	0	1.9806e-07	1	2.20738e-07	20	52				
FAM65A	79567	broad.mit.edu	37	16	67575783	67575783	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:67575783G>T	ENST00000379312.3	+	13	1227	c.1106G>T	c.(1105-1107)cGg>cTg	p.R369L	FAM65A_ENST00000428437.2_Missense_Mutation_p.R379L|FAM65A_ENST00000422602.2_Missense_Mutation_p.R385L|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.2_ENST00000567122.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.R385L|FAM65A_ENST00000042381.4_Missense_Mutation_p.R365L	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	369						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		ATGCTGCGACGGCAGGAGGAG	0.587																																						ENST00000540839.3																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1153-1155)cGg>cTg		family with sequence similarity 65, member A							65.0	68.0	67.0					16																	67575783		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67575783G>T	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1106G>T	16.37:g.67575783G>T	ENSP00000368614:p.Arg369Leu					FAM65A_ENST00000379312.3_Missense_Mutation_p.R369L|FAM65A_ENST00000042381.4_Missense_Mutation_p.R365L|FAM65A_ENST00000422602.2_Missense_Mutation_p.R385L|FAM65A_ENST00000428437.2_Missense_Mutation_p.R379L	p.R385L			Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	1374	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	369					B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1154G>T	CCDS54028.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656610	0.67586	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.01804	4.63;4.63;4.63	5.17	5.17	0.71159	.	0.342342	0.28130	N	0.016484	T	0.07234	0.0183	M	0.68593	2.085	0.37453	D	0.914885	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.65010	0.931;0.931;0.931;0.931	T	0.44406	-0.9330	10	0.25751	T	0.34	-16.4653	12.7097	0.57082	0.0803:0.0:0.9197:0.0	.	379;385;369;385	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	L	369;365;385;379	ENSP00000368614:R369L;ENSP00000042381:R365L;ENSP00000400099:R385L	ENSP00000042381:R365L	R	+	2	0	FAM65A	66133284	1.000000	0.71417	0.997000	0.53966	0.854000	0.48673	4.546000	0.60705	2.421000	0.82119	0.561000	0.74099	CGG		0.587	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519		30	33	1	0	1.7881e-09	1	2.05561e-09	30	33				
ST5	6764	broad.mit.edu	37	11	8739408	8739408	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:8739408A>G	ENST00000534127.1	-	8	1894	c.1509T>C	c.(1507-1509)gaT>gaC	p.D503D	ST5_ENST00000357665.1_Silent_p.D503D|ST5_ENST00000526757.1_Silent_p.D83D|ST5_ENST00000530438.1_Silent_p.D83D|ST5_ENST00000530991.1_5'UTR|ST5_ENST00000526099.1_Silent_p.D16D|ST5_ENST00000313726.6_Silent_p.D503D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	503					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTAAGTCCACATCCTCATATG	0.502																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1507-1509)gaT>gaC		suppression of tumorigenicity 5							150.0	118.0	129.0					11																	8739408		2201	4296	6497	SO:0001819	synonymous_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8739408A>G	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1509T>C	11.37:g.8739408A>G						ST5_ENST00000526099.1_Silent_p.D16D|ST5_ENST00000526757.1_Silent_p.D83D|ST5_ENST00000530438.1_Silent_p.D83D|ST5_ENST00000357665.1_Silent_p.D503D|ST5_ENST00000313726.6_Silent_p.D503D|ST5_ENST00000530991.1_5'UTR	p.D503D	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	8	1894	-			503					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	ENST00000534127.1	37	c.1509T>C	CCDS7791.1																																																																																				0.502	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		24	17	0	0	0	1	0	24	17				
PTPN14	5784	broad.mit.edu	37	1	214556821	214556821	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:214556821G>A	ENST00000366956.5	-	13	2571	c.2377C>T	c.(2377-2379)Cgg>Tgg	p.R793W	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	793					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGGTCAGTCCGAGACATGCTG	0.632																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2377-2379)Cgg>Tgg		protein tyrosine phosphatase, non-receptor type 14							49.0	51.0	50.0					1																	214556821		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214556821G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2377C>T	1.37:g.214556821G>A	ENSP00000355923:p.Arg793Trp					PTPN14_ENST00000543945.1_3'UTR	p.R793W	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2571	-			793					Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2377C>T	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.724577	0.30593	.	.	ENSG00000152104	ENST00000366956	T	0.69175	-0.38	5.1	5.1	0.69264	.	0.071346	0.56097	D	0.000031	T	0.64853	0.2636	L	0.60455	1.87	0.80722	D	1	D	0.61697	0.99	B	0.43809	0.432	T	0.71148	-0.4677	10	0.72032	D	0.01	.	13.4937	0.61411	0.0:0.0:0.8438:0.1562	.	793	Q15678	PTN14_HUMAN	W	793	ENSP00000355923:R793W	ENSP00000355923:R793W	R	-	1	2	PTPN14	212623444	1.000000	0.71417	0.714000	0.30535	0.002000	0.02628	3.059000	0.49947	2.363000	0.80096	0.563000	0.77884	CGG		0.632	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		20	97	0	0	0	1	0	20	97				
CCL1	6346	broad.mit.edu	37	17	32688835	32688835	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:32688835T>C	ENST00000225842.3	-	2	226	c.157A>G	c.(157-159)Acc>Gcc	p.T53A		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	53					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		ATGGAGCTGGTATTTCTGTAA	0.493											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000225842.3																			0											c.(157-159)Acc>Gcc		chemokine (C-C motif) ligand 1							176.0	173.0	174.0					17																	32688835		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32688835T>C	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.157A>G	17.37:g.32688835T>C	ENSP00000225842:p.Thr53Ala		OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	834		p.T53A	NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	2	226	-		Ovarian(249;0.0443)|Breast(31;0.133)	53					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.157A>G	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681983	0.47991	.	.	ENSG00000108702	ENST00000225842	T	0.05319	3.46	4.4	3.3	0.37823	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.954422	0.08725	N	0.902954	T	0.14399	0.0348	.	.	.	0.09310	N	1	P	0.51449	0.945	P	0.54759	0.76	T	0.19549	-1.0302	9	0.66056	D	0.02	-12.7294	7.0965	0.25313	0.2273:0.0:0.0:0.7727	.	53	P22362	CCL1_HUMAN	A	53	ENSP00000225842:T53A	ENSP00000225842:T53A	T	-	1	0	CCL1	29712948	0.623000	0.27094	0.000000	0.03702	0.001000	0.01503	1.016000	0.29976	0.967000	0.38186	0.528000	0.53228	ACC		0.493	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981		93	136	0	0	0	1	0	93	136				
PIP5K1B	8395	broad.mit.edu	37	9	71606169	71606169	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:71606169A>G	ENST00000265382.3	+	15	1921	c.1616A>G	c.(1615-1617)tAt>tGt	p.Y539C	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	539					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTTGACGTCTATTTAGTAAGT	0.438																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1615-1617)tAt>tGt		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							126.0	109.0	115.0					9																	71606169		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71606169A>G	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1616A>G	9.37:g.71606169A>G	ENSP00000265382:p.Tyr539Cys					PIP5K1B_ENST00000541509.1_Intron	p.539_539insC	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	15	1921	+			0					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.1616A>G	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.976974	0.53720	.	.	ENSG00000107242	ENST00000377290;ENST00000265382	T	0.32753	1.44	6.17	6.17	0.99709	.	.	.	.	.	T	0.30262	0.0759	L	0.61218	1.895	0.80722	D	1	P	0.46277	0.875	B	0.34824	0.19	T	0.21827	-1.0234	9	0.72032	D	0.01	.	14.3454	0.66658	1.0:0.0:0.0:0.0	.	539	O14986	PI51B_HUMAN	C	539	ENSP00000265382:Y539C	ENSP00000265382:Y539C	Y	+	2	0	PIP5K1B	70795989	1.000000	0.71417	0.998000	0.56505	0.299000	0.27559	5.763000	0.68818	2.371000	0.80710	0.533000	0.62120	TAT		0.438	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		9	35	0	0	0	1	0	9	35				
LSM1	27257	broad.mit.edu	37	8	38021207	38021207	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:38021207T>C	ENST00000311351.4	-	4	778	c.383A>G	c.(382-384)gAt>gGt	p.D128G	RP11-90P5.7_ENST00000521915.1_RNA|LSM1_ENST00000520755.1_3'UTR|LSM1_ENST00000522515.1_5'UTR|RP11-90P5.2_ENST00000520598.1_RNA	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	128					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					ATCAAGAGTATCTGCTCGAGG	0.498																																						ENST00000311351.4																			0				kidney(2)|large_intestine(3)|lung(2)	7						c.(382-384)gAt>gGt		LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)							109.0	92.0	98.0					8																	38021207		2203	4300	6503	SO:0001583	missense	27257				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr8:38021207T>C	AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.383A>G	8.37:g.38021207T>C	ENSP00000310596:p.Asp128Gly					RP11-90P5.2_ENST00000520598.1_RNA|LSM1_ENST00000520755.1_3'UTR|LSM1_ENST00000522515.1_5'UTR	p.D128G	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN			4	778	-	Colorectal(12;0.000442)		128					B2R5E6	Missense_Mutation	SNP	ENST00000311351.4	37	c.383A>G	CCDS6103.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206774	0.79127	.	.	ENSG00000175324	ENST00000311351	.	.	.	5.91	5.91	0.95273	.	0.044939	0.85682	D	0.000000	T	0.49321	0.1550	L	0.51422	1.61	0.80722	D	1	P	0.35656	0.514	B	0.27170	0.077	T	0.46871	-0.9160	9	0.22706	T	0.39	-25.6833	16.3486	0.83191	0.0:0.0:0.0:1.0	.	128	O15116	LSM1_HUMAN	G	128	.	ENSP00000310596:D128G	D	-	2	0	LSM1	38140364	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	7.860000	0.86993	2.259000	0.74868	0.528000	0.53228	GAT		0.498	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1	NM_014462		15	19	0	0	0	1	0	15	19				
LRFN1	57622	broad.mit.edu	37	19	39805044	39805044	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:39805044C>A	ENST00000248668.4	-	1	932	c.933G>T	c.(931-933)gtG>gtT	p.V311V	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	311	Ig-like.					cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGCCTTCCACCACCAGGGCCC	0.706																																						ENST00000248668.4																			0				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(931-933)gtG>gtT		leucine rich repeat and fibronectin type III domain containing 1							11.0	14.0	13.0					19																	39805044		2083	4197	6280	SO:0001819	synonymous_variant	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39805044C>A	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.933G>T	19.37:g.39805044C>A							p.V311V	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		1	932	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		311			Ig-like.		Q8TBS9	Silent	SNP	ENST00000248668.4	37	c.933G>T	CCDS46071.1																																																																																				0.706	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		7	12	1	0	0.00198382	1	0.00204836	7	12				
GLDC	2731	broad.mit.edu	37	9	6587274	6587274	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:6587274A>G	ENST00000321612.6	-	15	1867	c.1717T>C	c.(1717-1719)Tgg>Cgg	p.W573R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	573					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	AATTCTTTCCATGTGATAGGC	0.353																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1717-1719)Tgg>Cgg		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						75.0	70.0	72.0					9																	6587274		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6587274A>G	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1717T>C	9.37:g.6587274A>G	ENSP00000370737:p.Trp573Arg						p.W573R	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	15	1867	-		Acute lymphoblastic leukemia(23;0.161)	573					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1717T>C	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843869	0.71488	.	.	ENSG00000178445	ENST00000321612	D	0.98060	-4.69	5.26	5.26	0.73747	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98024	0.9349	M	0.81802	2.56	0.80722	D	1	P	0.51057	0.941	P	0.52424	0.698	D	0.98710	1.0704	10	0.87932	D	0	-10.0592	15.1815	0.72962	1.0:0.0:0.0:0.0	.	573	P23378	GCSP_HUMAN	R	573	ENSP00000370737:W573R	ENSP00000370737:W573R	W	-	1	0	GLDC	6577274	1.000000	0.71417	0.994000	0.49952	0.850000	0.48378	8.962000	0.93254	1.980000	0.57719	0.455000	0.32223	TGG		0.353	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		40	16	0	0	0	1	0	40	16				
AVPR1A	552	broad.mit.edu	37	12	63544027	63544027	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:63544027A>G	ENST00000299178.2	-	1	695	c.590T>C	c.(589-591)gTc>gCc	p.V197A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	197					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GGCCTTGGTGACATTGTTCAC	0.652																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(589-591)gTc>gCc		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						59.0	59.0	59.0					12																	63544027		2203	4299	6502	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63544027A>G	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.590T>C	12.37:g.63544027A>G	ENSP00000299178:p.Val197Ala						p.V197A	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	695	-			197						Missense_Mutation	SNP	ENST00000299178.2	37	c.590T>C	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028498	0.35797	.	.	ENSG00000166148	ENST00000299178	T	0.71103	-0.54	5.19	-0.454	0.12197	GPCR, rhodopsin-like superfamily (1);	0.410850	0.25894	N	0.027620	T	0.44498	0.1296	N	0.16478	0.41	0.30841	N	0.735633	B	0.06786	0.001	B	0.15052	0.012	T	0.17561	-1.0365	9	.	.	.	-22.6768	3.8711	0.09036	0.3144:0.4841:0.0851:0.1164	.	197	P37288	V1AR_HUMAN	A	197	ENSP00000299178:V197A	.	V	-	2	0	AVPR1A	61830294	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.286000	0.43496	-0.017000	0.14103	0.374000	0.22700	GTC		0.652	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			41	98	0	0	0	1	0	41	98				
CLINT1	9685	broad.mit.edu	37	5	157218920	157218920	+	Nonsense_Mutation	SNP	C	C	A	rs1803856	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:157218920C>A	ENST00000411809.2	-	10	1375	c.1171G>T	c.(1171-1173)Gag>Tag	p.E391*	CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E373*|CLINT1_ENST00000523094.1_Nonsense_Mutation_p.E373*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E373*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E391*	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	391					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAAAGAACTCGCCACTGGAA	0.512																																					Colon(22;427 587 2170 6147 14291)	ENST00000523094.1																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21						c.(1117-1119)Gag>Tag		clathrin interactor 1							75.0	81.0	79.0					5																	157218920		2079	4237	6316	SO:0001587	stop_gained	9685				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding	g.chr5:157218920C>A	AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1171G>T	5.37:g.157218920C>A	ENSP00000388340:p.Glu391*					CLINT1_ENST00000411809.2_Nonsense_Mutation_p.E391*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E373*|CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E373*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E391*	p.E373*	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		10	1322	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	391					B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Nonsense_Mutation	SNP	ENST00000411809.2	37	c.1117G>T	CCDS47330.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.998699|4.998699	0.93227|0.93227	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908|ENST00000521615	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.243394|.	0.44097|.	D|.	0.000485|.	.|T	.|0.81113	.|0.4755	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78534	.|-0.2167	.|3	0.08599|.	T|.	0.76|.	-21.3999|-21.3999	20.5373|20.5373	0.99239|0.99239	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	373;373;391;373;391|82	.|.	ENSP00000296951:E373X|.	E|R	-|-	1|2	0|0	CLINT1|CLINT1	157151498|157151498	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	4.064000|4.064000	0.57506|0.57506	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.512	CLINT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000374001.1	NM_014666		35	25	1	0	1.04352e-10	1	1.23865e-10	35	25				
ZMAT4	79698	broad.mit.edu	37	8	40532344	40532344	+	Silent	SNP	G	G	T	rs141980582		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:40532344G>T	ENST00000297737.6	-	5	602	c.456C>A	c.(454-456)gcC>gcA	p.A152A	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	152						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TATTAAACCAGGCTGCACAGA	0.507																																						ENST00000297737.6																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(454-456)gcC>gcA		zinc finger, matrin-type 4							200.0	197.0	198.0					8																	40532344		2203	4300	6503	SO:0001819	synonymous_variant	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40532344G>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.456C>A	8.37:g.40532344G>T						ZMAT4_ENST00000315769.7_Intron	p.A152A	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		5	602	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	152					Q8WUT8	Silent	SNP	ENST00000297737.6	37	c.456C>A	CCDS34885.1																																																																																				0.507	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		64	207	1	0	7.75977e-34	1	1.13293e-33	64	207				
MUC17	140453	broad.mit.edu	37	7	100681213	100681213	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:100681213G>T	ENST00000306151.4	+	3	6580	c.6516G>T	c.(6514-6516)gtG>gtT	p.V2172V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2172	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCACAGTGGTGGCCAGTT	0.468																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(6514-6516)gtG>gtT		mucin 17, cell surface associated							247.0	241.0	243.0					7																	100681213		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681213G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.6516G>T	7.37:g.100681213G>T							p.V2172V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	6580	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2172			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.6516G>T	CCDS34711.1																																																																																				0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		217	285	1	0	3.89567e-114	1	5.91235e-114	217	285				
SERPINB6	5269	broad.mit.edu	37	6	2949295	2949295	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:2949295C>A	ENST00000380520.1	-	5	2576	c.582G>T	c.(580-582)gaG>gaT	p.E194D	SERPINB6_ENST00000380546.3_Missense_Mutation_p.E194D|SERPINB6_ENST00000380524.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000380529.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000380539.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000335686.5_Missense_Mutation_p.E194D			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	194					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GCACAGGTTTCTCCTCATTCT	0.408																																						ENST00000380520.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17						c.(580-582)gaG>gaT		serpin peptidase inhibitor, clade B (ovalbumin), member 6	Drotrecogin alfa(DB00055)						79.0	80.0	80.0					6																	2949295		2203	4300	6503	SO:0001583	missense	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2949295C>A	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.582G>T	6.37:g.2949295C>A	ENSP00000369891:p.Glu194Asp					SERPINB6_ENST00000335686.5_Missense_Mutation_p.E194D|SERPINB6_ENST00000380529.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000380539.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000380524.1_Missense_Mutation_p.E194D|SERPINB6_ENST00000380546.3_Missense_Mutation_p.E194D	p.E194D			P35237	SPB6_HUMAN			5	2576	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	194					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	c.582G>T	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	C	7.568	0.666066	0.14710	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546	D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	4.88	2.04	0.26737	Serpin domain (3);	2.132850	0.02051	N	0.050081	T	0.69378	0.3104	L	0.52759	1.655	0.23421	N	0.997713	B	0.22800	0.075	B	0.36186	0.219	T	0.53816	-0.8385	10	0.27082	T	0.32	.	1.6876	0.02845	0.1581:0.3573:0.3069:0.1777	.	194	P35237	SPB6_HUMAN	D	194	ENSP00000369896:E194D;ENSP00000369891:E194D;ENSP00000338358:E194D;ENSP00000369901:E194D;ENSP00000369912:E194D;ENSP00000369919:E194D	ENSP00000338358:E194D	E	-	3	2	SERPINB6	2894294	0.000000	0.05858	0.546000	0.28166	0.542000	0.35054	-0.936000	0.03946	0.704000	0.31869	0.543000	0.68304	GAG		0.408	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			13	22	1	0	0.00136819	1	0.0014248	13	22				
SYNE1	23345	broad.mit.edu	37	6	152638075	152638075	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:152638075A>T	ENST00000367255.5	-	87	17220	c.16619T>A	c.(16618-16620)tTg>tAg	p.L5540*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.L5540*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.L5152*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.L5469*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.L64*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.L5469*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5540					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AATCCACTTCAAAATTAATTC	0.353										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(16618-16620)tTg>tAg		spectrin repeat containing, nuclear envelope 1							113.0	112.0	112.0					6																	152638075		2203	4300	6503	SO:0001587	stop_gained	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152638075A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16619T>A	6.37:g.152638075A>T	ENSP00000356224:p.Leu5540*	HNSCC(10;0.0054)				SYNE1_ENST00000356820.4_Nonsense_Mutation_p.L64*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.L5469*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.L5152*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.L5540*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.L5469*	p.L5540*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	87	17220	-		Ovarian(120;0.0955)	5540					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Nonsense_Mutation	SNP	ENST00000367255.5	37	c.16619T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	36	5.898469	0.97081	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	.	.	.	5.58	3.15	0.36227	.	0.303220	0.23351	N	0.049121	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9596	0.24590	0.6031:0.1362:0.0:0.2607	.	.	.	.	X	5540;5469;5540;5469;5152;64	.	ENSP00000265368:L5540X	L	-	2	0	SYNE1	152679768	0.998000	0.40836	0.990000	0.47175	0.997000	0.91878	3.848000	0.55903	0.392000	0.25172	0.455000	0.32223	TTG		0.353	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		17	27	0	0	0	1	0	17	27				
INADL	10207	broad.mit.edu	37	1	62393502	62393502	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:62393502G>T	ENST00000371158.2	+	27	3784		c.e27+1		INADL_ENST00000316485.6_Splice_Site	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)						cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTTACCGACCGTGAGTGCCTT	0.383																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.e27+1		InaD-like (Drosophila)							102.0	93.0	96.0					1																	62393502		2203	4300	6503	SO:0001630	splice_region_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62393502G>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.3670+1G>T	1.37:g.62393502G>T						INADL_ENST00000316485.6_Splice_Site		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			27	3784	+								O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Splice_Site	SNP	ENST00000371158.2	37		CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	11.71	1.721306	0.30503	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8308	0.57744	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INADL	62166090	1.000000	0.71417	0.958000	0.39756	0.011000	0.07611	4.845000	0.62853	2.465000	0.83290	0.650000	0.86243	.		0.383	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	Intron	20	41	1	0	8.10497e-08	1	9.08853e-08	20	41				
HLX	3142	broad.mit.edu	37	1	221053746	221053746	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:221053746T>C	ENST00000366903.6	+	1	2048	c.547T>C	c.(547-549)Tct>Cct	p.S183P	HLX_ENST00000549319.1_5'Flank|HLA-AS1_ENST00000552026.1_RNA	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	183					cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CCGCATTTTATCTGCAGAATT	0.602																																						ENST00000366903.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(547-549)Tct>Cct		H2.0-like homeobox							38.0	46.0	43.0					1																	221053746		2112	4189	6301	SO:0001583	missense	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221053746T>C	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.547T>C	1.37:g.221053746T>C	ENSP00000355870:p.Ser183Pro						p.S183P	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	1	2048	+			183					B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	ENST00000366903.6	37	c.547T>C	CCDS1527.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434131	0.83776	.	.	ENSG00000136630	ENST00000366903	T	0.32272	1.46	4.66	4.66	0.58398	.	0.000000	0.56097	D	0.000028	T	0.44074	0.1276	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.39522	-0.9610	10	0.56958	D	0.05	-12.266	13.9283	0.63978	0.0:0.0:0.0:1.0	.	183	Q14774	HLX_HUMAN	P	183	ENSP00000355870:S183P	ENSP00000355870:S183P	S	+	1	0	HLX	219120369	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.833000	0.69349	1.954000	0.56735	0.533000	0.62120	TCT		0.602	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	NM_021958		76	36	0	0	0	1	0	76	36				
DPPA3P2	400206	broad.mit.edu	37	14	36841171	36841171	+	RNA	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:36841171A>G	ENST00000557188.1	+	0	802									developmental pluripotency associated 3 pseudogene 2																		CTATGCTAGTATAGACTATAC	0.323																																						ENST00000557188.1																			0																																																			400206							g.chr14:36841171A>G			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36841171A>G														0	802	+									RNA	SNP	ENST00000557188.1	37																																																																																						0.323	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			6	27	0	0	0	1	0	6	27				
CREB3L3	84699	broad.mit.edu	37	19	4154951	4154951	+	Missense_Mutation	SNP	T	T	C	rs368774801		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:4154951T>C	ENST00000078445.2	+	2	230	c.83T>C	c.(82-84)cTc>cCc	p.L28P	CREB3L3_ENST00000595923.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000252587.3_Missense_Mutation_p.L19P|CREB3L3_ENST00000602257.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L28P	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	28					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTGGATCTCCTGTTTGAC	0.627																																						ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(82-84)cTc>cCc		cAMP responsive element binding protein 3-like 3							106.0	91.0	96.0					19																	4154951		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4154951T>C		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.83T>C	19.37:g.4154951T>C	ENSP00000078445:p.Leu28Pro					CREB3L3_ENST00000595923.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000602257.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L28P|CREB3L3_ENST00000252587.3_Missense_Mutation_p.L19P	p.L28P	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	2	230	+			28					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.83T>C	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.586847	0.66105	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.88201	-2.35;-2.35	5.18	5.18	0.71444	.	0.226592	0.36854	N	0.002369	D	0.93426	0.7903	M	0.74258	2.255	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.987;0.994;0.987	D	0.93825	0.7122	10	0.72032	D	0.01	-35.999	11.461	0.50211	0.0:0.0:0.0:1.0	.	28;28;28;28	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	P	28;28;19	ENSP00000078445:L28P;ENSP00000252587:L19P	ENSP00000078445:L28P	L	+	2	0	CREB3L3	4105951	0.872000	0.30054	0.955000	0.39395	0.767000	0.43475	3.130000	0.50508	1.965000	0.57142	0.254000	0.18369	CTC		0.627	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		56	115	0	0	0	1	0	56	115				
FBN1	2200	broad.mit.edu	37	15	48703453	48703453	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:48703453G>C	ENST00000316623.5	-	66	8805	c.8350C>G	c.(8350-8352)Ctt>Gtt	p.L2784V	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2784					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.L2784I(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGAGTTGTAAGAGCTGGAAGG	0.418																																						ENST00000316623.5																			1	Substitution - Missense(1)	p.L2784I(1)	large_intestine(1)	NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(8350-8352)Ctt>Gtt		fibrillin 1							158.0	151.0	154.0					15																	48703453		2198	4297	6495	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48703453G>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8350C>G	15.37:g.48703453G>C	ENSP00000325527:p.Leu2784Val					FBN1_ENST00000561429.1_5'UTR	p.L2784V	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	66	8805	-		all_lung(180;0.00279)	2784					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.8350C>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798430	0.50208	.	.	ENSG00000166147	ENST00000316623	D	0.81821	-1.54	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.86863	0.6035	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	D	0.84158	0.0427	10	0.30078	T	0.28	.	18.2948	0.90141	0.0:0.0:1.0:0.0	.	2784	P35555	FBN1_HUMAN	V	2784	ENSP00000325527:L2784V	ENSP00000325527:L2784V	L	-	1	0	FBN1	46490745	1.000000	0.71417	0.991000	0.47740	0.992000	0.81027	6.061000	0.71148	2.727000	0.93392	0.650000	0.86243	CTT		0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			57	88	0	0	0	1	0	57	88				
ST3GAL5	8869	broad.mit.edu	37	2	86071632	86071632	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:86071632T>C	ENST00000377332.3	-	6	1003	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	ST3GAL5_ENST00000393808.3_Missense_Mutation_p.I276V|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.I271V	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	299					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TGCAGTGGGATTTTTTCTGCC	0.458																																						ENST00000377332.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(895-897)Atc>Gtc		ST3 beta-galactoside alpha-2,3-sialyltransferase 5							89.0	88.0	88.0					2																	86071632		2203	4300	6503	SO:0001583	missense	8869				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity	g.chr2:86071632T>C	AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.895A>G	2.37:g.86071632T>C	ENSP00000366549:p.Ile299Val					ST3GAL5_ENST00000393808.3_Missense_Mutation_p.I276V|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.I271V	p.I299V	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN			6	1003	-			299					B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	ENST00000377332.3	37	c.895A>G	CCDS1986.2	.	.	.	.	.	.	.	.	.	.	T	5.640	0.302791	0.10678	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332	T;T;T	0.29655	1.56;1.56;1.56	5.43	4.23	0.50019	.	0.146215	0.64402	N	0.000012	T	0.21801	0.0525	L	0.38531	1.155	0.80722	D	1	B;B	0.14805	0.011;0.005	B;B	0.20184	0.028;0.016	T	0.04268	-1.0964	10	0.09084	T	0.74	-17.1999	10.8204	0.46601	0.0:0.0755:0.0:0.9245	.	299;276	Q9UNP4;Q9UNP4-3	SIAT9_HUMAN;.	V	276;271;299	ENSP00000377397:I276V;ENSP00000377394:I271V;ENSP00000366549:I299V	ENSP00000366549:I299V	I	-	1	0	ST3GAL5	85925143	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.226000	0.51254	0.860000	0.35481	0.477000	0.44152	ATC		0.458	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252486.1	NM_003896		14	96	0	0	0	1	0	14	96				
KLHL4	56062	broad.mit.edu	37	X	86773076	86773076	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:86773076C>T	ENST00000373119.4	+	1	325	c.180C>T	c.(178-180)aaC>aaT	p.N60N	KLHL4_ENST00000373114.4_Silent_p.N60N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	60						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGGACAGAAACGGACTGAAGA	0.547																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(178-180)aaC>aaT		kelch-like family member 4							77.0	65.0	69.0					X																	86773076		2203	4300	6503	SO:0001819	synonymous_variant	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86773076C>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.180C>T	X.37:g.86773076C>T						KLHL4_ENST00000373114.4_Silent_p.N60N	p.N60N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			1	325	+			60					B2RTW2|Q9Y3J5	Silent	SNP	ENST00000373119.4	37	c.180C>T	CCDS14457.1																																																																																				0.547	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			27	12	0	0	0	1	0	27	12				
COL6A3	1293	broad.mit.edu	37	2	238287556	238287556	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:238287556A>G	ENST00000295550.4	-	6	2672	c.2220T>C	c.(2218-2220)cgT>cgC	p.R740R	COL6A3_ENST00000409809.1_Silent_p.R534R|COL6A3_ENST00000392003.2_Silent_p.R333R|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392004.3_Silent_p.R534R|COL6A3_ENST00000347401.3_Silent_p.R539R|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Silent_p.R534R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	740	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCACGTGTTCACGGATCCTGC	0.607																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(2218-2220)cgT>cgC		collagen, type VI, alpha 3							51.0	48.0	49.0					2																	238287556		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238287556A>G	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2220T>C	2.37:g.238287556A>G						COL6A3_ENST00000392004.3_Silent_p.R534R|COL6A3_ENST00000392003.2_Silent_p.R333R|COL6A3_ENST00000409809.1_Silent_p.R534R|COL6A3_ENST00000347401.3_Silent_p.R539R|COL6A3_ENST00000353578.4_Silent_p.R534R|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Intron	p.R740R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	6	2672	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	740			Nonhelical region.|VWFA 4.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.2220T>C	CCDS33412.1																																																																																				0.607	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		25	38	0	0	0	1	0	25	38				
GNA14	9630	broad.mit.edu	37	9	80046236	80046236	+	Splice_Site	SNP	C	C	A	rs140029377		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:80046236C>A	ENST00000341700.6	-	4	1107		c.e4+1		GNA14_ENST00000464095.1_Splice_Site	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GACAGACTTACCGAAAGATGA	0.478																																						ENST00000341700.6																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.e4+1		guanine nucleotide binding protein (G protein), alpha 14							151.0	138.0	142.0					9																	80046236		2203	4300	6503	SO:0001630	splice_region_variant	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80046236C>A	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.593+1G>T	9.37:g.80046236C>A						GNA14_ENST00000464095.1_Splice_Site		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			4	1107	-								B1ALW3	Splice_Site	SNP	ENST00000341700.6	37		CCDS6657.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222828	0.58668	.	.	ENSG00000156049	ENST00000341700	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1675	0.93562	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GNA14	79236056	1.000000	0.71417	0.998000	0.56505	0.437000	0.31866	7.752000	0.85141	2.705000	0.92388	0.655000	0.94253	.		0.478	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1		Intron	45	59	1	0	1.61004e-24	1	2.25591e-24	45	59				
GRM7	2917	broad.mit.edu	37	3	7348258	7348258	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:7348258T>G	ENST00000357716.4	+	4	1226	c.952T>G	c.(952-954)Tcc>Gcc	p.S318A	GRM7_ENST00000389336.4_Missense_Mutation_p.S318A|GRM7_ENST00000486284.1_Missense_Mutation_p.S318A|GRM7_ENST00000403881.1_Missense_Mutation_p.S318A|GRM7_ENST00000402647.2_Missense_Mutation_p.S318A	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	318					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CAGCTGGGGATCCAAAATAAA	0.498																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(952-954)Tcc>Gcc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						95.0	96.0	95.0					3																	7348258		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7348258T>G	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.952T>G	3.37:g.7348258T>G	ENSP00000350348:p.Ser318Ala					GRM7_ENST00000389336.4_Missense_Mutation_p.S318A|GRM7_ENST00000357716.4_Missense_Mutation_p.S318A|GRM7_ENST00000403881.1_Missense_Mutation_p.S318A|GRM7_ENST00000402647.2_Missense_Mutation_p.S318A	p.S318A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			4	1226	+			318					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.952T>G	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	T	4.220	0.039737	0.08148	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.65	4.46	0.54185	Extracellular ligand-binding receptor (1);	0.316812	0.32430	N	0.006114	T	0.61060	0.2317	N	0.04508	-0.205	0.31985	N	0.605345	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.002;0.003	T	0.55244	-0.8171	10	0.05436	T	0.98	.	12.0668	0.53592	0.0:0.0:0.1442:0.8558	.	318;318;318	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	A	110;318;318;318;318;318;318;318	ENSP00000393799:S110A;ENSP00000350348:S318A;ENSP00000417536:S318A;ENSP00000373987:S318A;ENSP00000385664:S318A;ENSP00000384585:S318A	ENSP00000350348:S318A	S	+	1	0	GRM7	7323258	0.983000	0.35010	0.998000	0.56505	0.998000	0.95712	1.604000	0.36804	1.050000	0.40346	0.477000	0.44152	TCC		0.498	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		26	33	0	0	0	1	0	26	33				
CRHR1	1394	broad.mit.edu	37	17	43893833	43893833	+	Silent	SNP	G	G	A	rs538744624		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:43893833G>A	ENST00000398285.3	+	3	126	c.126G>A	c.(124-126)ctG>ctA	p.L42L	CRHR1_ENST00000339069.5_5'UTR|CRHR1_ENST00000293493.7_5'UTR|RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000577353.1_Silent_p.L42L|CRHR1_ENST00000314537.5_Silent_p.L42L|CRHR1_ENST00000352855.5_Intron	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	42					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCCCAGGACTGCAGTGCAACG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		19469	0.001		0.0	False		,,,				2504	0.0				Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(124-126)ctG>ctA		corticotropin releasing hormone receptor 1							42.0	44.0	43.0					17																	43893833		2019	4168	6187	SO:0001819	synonymous_variant	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43893833G>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.126G>A	17.37:g.43893833G>A						CRHR1_ENST00000577353.1_Silent_p.L42L|CRHR1_ENST00000398285.3_Silent_p.L42L|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000352855.5_Intron|RP11-105N13.4_ENST00000587305.1_RNA|CRHR1_ENST00000339069.5_5'UTR	p.L42L	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	3	351	+	Colorectal(2;0.0416)		42					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Silent	SNP	ENST00000398285.3	37	c.126G>A	CCDS45712.1																																																																																				0.642	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			25	29	0	0	0	1	0	25	29				
XIRP2	129446	broad.mit.edu	37	2	168100146	168100146	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:168100146G>T	ENST00000409195.1	+	9	2333	c.2244G>T	c.(2242-2244)tcG>tcT	p.S748S	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.S526S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.S748S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	573					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGATGGTTCGGGCCAAATGC	0.383																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2242-2244)tcG>tcT		xin actin-binding repeat containing 2							64.0	59.0	61.0					2																	168100146		1853	4087	5940	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100146G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2244G>T	2.37:g.168100146G>T						XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Silent_p.S748S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S526S|XIRP2_ENST00000409756.2_Intron	p.S748S	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	2333	+			573					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.2244G>T	CCDS42769.1																																																																																				0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		24	61	1	0	1.55469e-16	1	2.03028e-16	24	61				
SYNE2	23224	broad.mit.edu	37	14	64493314	64493314	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:64493314G>T	ENST00000344113.4	+	42	6482	c.6270G>T	c.(6268-6270)aaG>aaT	p.K2090N	SYNE2_ENST00000358025.3_Missense_Mutation_p.K2090N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.K2090N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2090					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTTTGCTGAAGCCTGAAGGGG	0.418																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(6268-6270)aaG>aaT		spectrin repeat containing, nuclear envelope 2							51.0	50.0	50.0					14																	64493314		1904	4111	6015	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64493314G>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6270G>T	14.37:g.64493314G>T	ENSP00000341781:p.Lys2090Asn					SYNE2_ENST00000554584.1_Missense_Mutation_p.K2090N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.K2090N	p.K2090N	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	42	6500	+			2090					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.6270G>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.599962	0.28534	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.61980	0.36;0.37;0.06	4.66	-1.72	0.08107	.	0.000000	0.56097	D	0.000034	T	0.62563	0.2438	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.57808	-0.7747	10	0.38643	T	0.18	.	10.3982	0.44214	0.6363:0.0:0.3637:0.0	.	2090;2090	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	2090	ENSP00000350719:K2090N;ENSP00000341781:K2090N;ENSP00000452570:K2090N	ENSP00000261678:K2090N	K	+	3	2	SYNE2	63563067	1.000000	0.71417	0.706000	0.30403	0.631000	0.37964	0.548000	0.23314	-0.315000	0.08703	0.650000	0.86243	AAG		0.418	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		16	28	1	0	1.5739e-10	1	1.86215e-10	16	28				
WDR72	256764	broad.mit.edu	37	15	53992035	53992035	+	Silent	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:53992035A>C	ENST00000396328.1	-	13	1916	c.1677T>G	c.(1675-1677)ccT>ccG	p.P559P	WDR72_ENST00000559418.1_Silent_p.P569P|WDR72_ENST00000557913.1_Silent_p.P556P|WDR72_ENST00000360509.5_Silent_p.P559P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	559										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCATCCTCACAGGAAAAAGGT	0.448																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1675-1677)ccT>ccG		WD repeat domain 72							121.0	129.0	127.0					15																	53992035		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53992035A>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1677T>G	15.37:g.53992035A>C						WDR72_ENST00000360509.5_Silent_p.P559P|WDR72_ENST00000559418.1_Silent_p.P569P|WDR72_ENST00000557913.1_Silent_p.P556P	p.P559P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	13	1916	-			559					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.1677T>G	CCDS10151.1																																																																																				0.448	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		54	158	0	0	0	1	0	54	158				
SETD5	55209	broad.mit.edu	37	3	9514922	9514922	+	Silent	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:9514922A>T	ENST00000406341.1	+	19	3388	c.3198A>T	c.(3196-3198)gtA>gtT	p.V1066V	SETD5_ENST00000302463.6_Silent_p.V968V|SETD5_ENST00000402198.1_Silent_p.V1066V|SETD5_ENST00000407969.1_Silent_p.V1085V|SETD5_ENST00000402466.1_Silent_p.V968V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1066										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTTTCTAGGTATCCCTGCTGG	0.448																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2902-2904)gtA>gtT		SET domain containing 5							36.0	35.0	35.0					3																	9514922		1913	4125	6038	SO:0001819	synonymous_variant	55209							g.chr3:9514922A>T	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.3198A>T	3.37:g.9514922A>T						SETD5_ENST00000402198.1_Silent_p.V1066V|SETD5_ENST00000302463.6_Silent_p.V968V|SETD5_ENST00000407969.1_Silent_p.V1085V|SETD5_ENST00000406341.1_Silent_p.V1066V	p.V968V			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	21	3672	+	Medulloblastoma(99;0.227)		1066					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.2904A>T	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	A	9.999	1.233076	0.22626	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.9	-5.99	0.02213	.	.	.	.	.	T	0.47451	0.1446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50906	-0.8772	4	.	.	.	-11.4533	6.9157	0.24359	0.2717:0.1024:0.5254:0.1005	.	.	.	.	F	734;397	.	.	I	+	1	0	SETD5	9489922	0.000000	0.05858	0.973000	0.42090	0.992000	0.81027	-3.118000	0.00596	-0.663000	0.05331	0.528000	0.53228	ATC		0.448	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		18	15	0	0	0	1	0	18	15				
TTC7A	57217	broad.mit.edu	37	2	47205965	47205965	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:47205965G>A	ENST00000319190.5	+	5	1051	c.683G>A	c.(682-684)gGc>gAc	p.G228D	TTC7A_ENST00000394850.2_Missense_Mutation_p.G228D|TTC7A_ENST00000409245.1_Missense_Mutation_p.G194D|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_De_novo_Start_OutOfFrame	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	228					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CATCTGAAAGGCTGTCACCCG	0.517																																						ENST00000263737.6																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25								tetratricopeptide repeat domain 7A							128.0	102.0	111.0					2																	47205965		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47205965G>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.683G>A	2.37:g.47205965G>A	ENSP00000316699:p.Gly228Asp					TTC7A_ENST00000394850.2_Missense_Mutation_p.G228D|TTC7A_ENST00000409245.1_Missense_Mutation_p.G194D|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000319190.5_Missense_Mutation_p.G228D				Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		0	682	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)						Q6PIX4|Q8ND67|Q9BUS3	Translation_Start_Site	SNP	ENST00000319190.5	37		CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.057835	0.55325	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.37235	1.62;1.65;1.21	5.61	4.72	0.59763	.	0.196195	0.43747	D	0.000533	T	0.40094	0.1103	M	0.61703	1.905	0.80722	D	1	P;B;P;B;B	0.52577	0.954;0.006;0.679;0.321;0.01	B;B;B;B;B	0.43754	0.43;0.007;0.241;0.1;0.016	T	0.35773	-0.9775	10	0.41790	T	0.15	-15.8057	15.0615	0.71958	0.0:0.0:0.8565:0.1435	.	228;194;228;56;194	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	D	194;228;228;55	ENSP00000386307:G194D;ENSP00000316699:G228D;ENSP00000378320:G228D	ENSP00000316699:G228D	G	+	2	0	TTC7A	47059469	0.993000	0.37304	0.980000	0.43619	0.690000	0.40134	1.864000	0.39469	1.487000	0.48415	0.655000	0.94253	GGC		0.517	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		18	60	0	0	0	1	0	18	60				
ZNF566	84924	broad.mit.edu	37	19	36939917	36939917	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:36939917C>T	ENST00000434377.2	-	5	1300	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	ZNF566_ENST00000493391.1_Missense_Mutation_p.D303N|ZNF566_ENST00000392170.2_Missense_Mutation_p.D408N|ZNF566_ENST00000424129.2_Missense_Mutation_p.D407N|ZNF566_ENST00000454319.1_Missense_Mutation_p.D408N	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AGTTGTGGGTCATAATTAAAG	0.333																																						ENST00000454319.1																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1222-1224)Gac>Aac		zinc finger protein 566							62.0	61.0	61.0					19																	36939917		2203	4300	6503	SO:0001583	missense	84924				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36939917C>T	AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.1219G>A	19.37:g.36939917C>T	ENSP00000415520:p.Asp407Asn					ZNF566_ENST00000493391.1_Missense_Mutation_p.D303N|ZNF566_ENST00000434377.2_Missense_Mutation_p.D407N|ZNF566_ENST00000424129.2_Missense_Mutation_p.D407N|ZNF566_ENST00000392170.2_Missense_Mutation_p.D408N	p.D408N	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN			5	1356	-	Esophageal squamous(110;0.162)		407					B7ZL95|Q2M3J1	Missense_Mutation	SNP	ENST00000434377.2	37	c.1222G>A	CCDS12494.1	.	.	.	.	.	.	.	.	.	.	C	0.520	-0.862730	0.02610	.	.	ENSG00000186017	ENST00000454319;ENST00000434377;ENST00000392170;ENST00000424129	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	3.26	-2.93	0.05598	Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.856610	0.02670	N	0.108469	T	0.28400	0.0702	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13522	-1.0506	10	0.25106	T	0.35	.	6.327	0.21248	0.0:0.2898:0.1428:0.5674	.	408;407	B7ZL95;Q969W8	.;ZN566_HUMAN	N	408;407;408;407	ENSP00000394207:D408N;ENSP00000415520:D407N;ENSP00000376010:D408N;ENSP00000401259:D407N	ENSP00000376010:D408N	D	-	1	0	ZNF566	41631757	.	.	0.054000	0.19295	0.304000	0.27724	.	.	-0.478000	0.06823	-0.368000	0.07277	GAC		0.333	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000341054.1	NM_032838		6	23	0	0	0	1	0	6	23				
SESTD1	91404	broad.mit.edu	37	2	180041225	180041225	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:180041225C>A	ENST00000428443.3	-	4	521	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	SESTD1_ENST00000486468.1_5'UTR	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	69	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GATTTTCTGCCATCCACAATC	0.348																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(205-207)Ggc>Tgc		SEC14 and spectrin domains 1							169.0	143.0	152.0					2																	180041225		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180041225C>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.205G>T	2.37:g.180041225C>A	ENSP00000415332:p.Gly69Cys					SESTD1_ENST00000486468.1_5'UTR	p.G69C	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		4	521	-			69			CRAL-TRIO.		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.205G>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590357	0.86851	.	.	ENSG00000187231	ENST00000428443;ENST00000440010;ENST00000435047	D;T;T	0.83914	-1.78;0.02;0.02	5.7	5.7	0.88788	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84520	0.5490	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83386	0.0015	9	.	.	.	-8.8241	19.8381	0.96666	0.0:1.0:0.0:0.0	.	69	Q86VW0	SESD1_HUMAN	C	69	ENSP00000415332:G69C;ENSP00000416164:G69C;ENSP00000410286:G69C	.	G	-	1	0	SESTD1	179749470	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.794000	0.85869	2.695000	0.91970	0.460000	0.39030	GGC		0.348	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		10	35	1	0	2.17888e-05	1	2.34599e-05	10	35				
FAT4	79633	broad.mit.edu	37	4	126336448	126336448	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:126336448A>G	ENST00000394329.3	+	5	6343	c.6330A>G	c.(6328-6330)ggA>ggG	p.G2110G	FAT4_ENST00000335110.5_Silent_p.G408G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2110	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCTCACTGGAGAACTGGACA	0.438																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6328-6330)ggA>ggG		FAT atypical cadherin 4							118.0	119.0	119.0					4																	126336448		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336448A>G	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6330A>G	4.37:g.126336448A>G						FAT4_ENST00000335110.5_Silent_p.G408G	p.G2110G	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6343	+			2110			Cadherin 20.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6330A>G	CCDS3732.3																																																																																				0.438	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		63	115	0	0	0	1	0	63	115				
FRMD3	257019	broad.mit.edu	37	9	85905587	85905587	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:85905587T>A	ENST00000304195.3	-	13	1332	c.1126A>T	c.(1126-1128)Aac>Tac	p.N376Y	FRMD3_ENST00000376434.1_Missense_Mutation_p.N182Y|FRMD3_ENST00000376438.1_Missense_Mutation_p.N376Y	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	376						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GGTTCCATGTTAATGATGAGC	0.498																																						ENST00000304195.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1126-1128)Aac>Tac		FERM domain containing 3							121.0	124.0	123.0					9																	85905587		1956	4153	6109	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85905587T>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1126A>T	9.37:g.85905587T>A	ENSP00000303508:p.Asn376Tyr					FRMD3_ENST00000376434.1_Missense_Mutation_p.N182Y|FRMD3_ENST00000376438.1_Missense_Mutation_p.N376Y	p.N376Y	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			13	1332	-			376					A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.1126A>T	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247819	0.80024	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195	D;D;D	0.86694	-1.74;-2.16;-1.75	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.86539	0.5957	L	0.27053	0.805	0.80722	D	1	D;D	0.63880	0.987;0.993	P;P	0.54460	0.753;0.753	D	0.87961	0.2730	10	0.59425	D	0.04	.	15.3143	0.74062	0.0:0.0:0.0:1.0	.	376;376	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	Y	376;182;376	ENSP00000365621:N376Y;ENSP00000365617:N182Y;ENSP00000303508:N376Y	ENSP00000303508:N376Y	N	-	1	0	FRMD3	85095407	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.138000	0.71717	2.264000	0.75181	0.533000	0.62120	AAC		0.498	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		47	48	0	0	0	1	0	47	48				
NIPSNAP1	8508	broad.mit.edu	37	22	29966184	29966184	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:29966184T>A	ENST00000216121.7	-	3	493	c.239A>T	c.(238-240)aAg>aTg	p.K80M		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	80					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GTATTCAGGCTTTACATTGTG	0.532																																						ENST00000216121.7																			1	Unknown(1)	p.?(1)	lung(1)	large_intestine(2)|lung(2)|skin(1)	5						c.(238-240)aAg>aTg		nipsnap homolog 1 (C. elegans)							220.0	180.0	193.0					22																	29966184		2203	4300	6503	SO:0001583	missense	8508							g.chr22:29966184T>A	AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"""4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"""	603249	"""NIPSNAP, C. elegans, homolog 1"""			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.239A>T	22.37:g.29966184T>A	ENSP00000216121:p.Lys80Met						p.K80M	NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN			3	493	-			80					B2RAY3|O43800	Missense_Mutation	SNP	ENST00000216121.7	37	c.239A>T	CCDS13860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.37|18.37	3.610219|3.610219	0.66558|0.66558	.|.	.|.	ENSG00000184117|ENSG00000184117	ENST00000216121|ENST00000415100	T|.	0.51071|.	0.72|.	4.51|4.51	4.51|4.51	0.55191|0.55191	Dimeric alpha-beta barrel (1);|.	0.043622|0.043622	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.79435|0.79435	0.4445|0.4445	M|M	0.88310|0.88310	2.945|2.945	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.83322|0.83322	-0.0017|-0.0017	10|6	0.87932|.	D|.	0|.	-8.5666|-8.5666	13.9904|13.9904	0.64362|0.64362	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	60;80|.	B4DQI7;Q9BPW8|.	.;NIPS1_HUMAN|.	M|N	80|96	ENSP00000216121:K80M|.	ENSP00000216121:K80M|.	K|K	-|-	2|3	0|2	NIPSNAP1|NIPSNAP1	28296184|28296184	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.397000|0.397000	0.30659|0.30659	7.586000|7.586000	0.82596|0.82596	2.027000|2.027000	0.59764|0.59764	0.456000|0.456000	0.33151|0.33151	AAG|AAA		0.532	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322117.1			11	59	0	0	0	1	0	11	59				
CASP2	835	broad.mit.edu	37	7	142997027	142997027	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:142997027G>C	ENST00000310447.5	+	7	1000	c.759G>C	c.(757-759)gaG>gaC	p.E253D	RN7SL481P_ENST00000477764.2_RNA|CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	253					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AAATGCAAGAGAAACTGCAGA	0.463											OREG0018400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310447.5																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21						c.(757-759)gaG>gaC		caspase 2, apoptosis-related cysteine peptidase							82.0	76.0	78.0					7																	142997027		2203	4300	6503	SO:0001583	missense	835				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	g.chr7:142997027G>C	AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.759G>C	7.37:g.142997027G>C	ENSP00000312664:p.Glu253Asp		OREG0018400	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1675	CASP2_ENST00000493642.1_3'UTR	p.E253D	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN			7	1000	+	Melanoma(164;0.059)		253					A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	c.759G>C	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756088	0.31137	.	.	ENSG00000106144	ENST00000310447;ENST00000392923	T	0.20069	2.1	5.43	3.62	0.41486	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.407546	0.29417	N	0.012207	T	0.12689	0.0308	L	0.28556	0.865	0.80722	D	1	B	0.19200	0.034	B	0.20767	0.031	T	0.13791	-1.0496	10	0.24483	T	0.36	.	4.356	0.11178	0.2489:0.0:0.5811:0.17	.	253	P42575	CASP2_HUMAN	D	253;222	ENSP00000312664:E253D	ENSP00000312664:E253D	E	+	3	2	CASP2	142707149	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	1.040000	0.30278	0.675000	0.31264	0.650000	0.86243	GAG		0.463	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3	NM_032982		16	64	0	0	0	1	0	16	64				
MMP20	9313	broad.mit.edu	37	11	102477335	102477335	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:102477335A>C	ENST00000260228.2	-	6	896	c.884T>G	c.(883-885)cTc>cGc	p.L295R	RP11-817J15.2_ENST00000544115.1_RNA|RP11-817J15.2_ENST00000542119.1_RNA|MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	316					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GGAGTCACAGAGGTCAGGGAT	0.542																																						ENST00000260228.2																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(883-885)cTc>cGc		matrix metallopeptidase 20							123.0	111.0	115.0					11																	102477335		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102477335A>C	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.884T>G	11.37:g.102477335A>C	ENSP00000260228:p.Leu295Arg					MMP20_ENST00000544938.1_5'UTR	p.L295R	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	6	896	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	295					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.884T>G	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	A	4.211	0.038038	0.08148	.	.	ENSG00000137674	ENST00000260228	T	0.14266	2.52	5.45	3.13	0.36017	Hemopexin/matrixin (2);	0.760512	0.12882	N	0.431333	T	0.04815	0.0130	N	0.03608	-0.345	0.21822	N	0.999523	B	0.09022	0.002	B	0.12156	0.007	T	0.44726	-0.9309	10	0.12430	T	0.62	.	3.656	0.08221	0.4233:0.0:0.1536:0.4231	.	295	O60882	MMP20_HUMAN	R	295	ENSP00000260228:L295R	ENSP00000260228:L295R	L	-	2	0	MMP20	101982545	0.574000	0.26684	0.995000	0.50966	0.842000	0.47809	1.019000	0.30014	0.495000	0.27882	0.528000	0.53228	CTC		0.542	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			33	58	0	0	0	1	0	33	58				
PSG8	440533	broad.mit.edu	37	19	43262174	43262174	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:43262174G>T	ENST00000306511.4	-	3	786	c.689C>A	c.(688-690)cCa>cAa	p.P230Q	PSG8_ENST00000404209.4_Missense_Mutation_p.P230Q|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.P108Q	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	230	Ig-like C2-type 1.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CAGGGTGAATGGGTCACTGCG	0.527																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(688-690)cCa>cAa		pregnancy specific beta-1-glycoprotein 8							208.0	217.0	214.0					19																	43262174		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43262174G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.689C>A	19.37:g.43262174G>T	ENSP00000305005:p.Pro230Gln					PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Missense_Mutation_p.P230Q|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.P108Q	p.P230Q	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			3	785	-		Prostate(69;0.00899)	230			Ig-like C2-type 1.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.689C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	12.80	2.046858	0.36085	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	T;T;T	0.14022	2.54;2.54;2.54	1.53	1.53	0.23141	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38241	0.1033	M	0.89414	3.03	0.20563	N	0.99989	P;D;D;D	0.89917	0.573;1.0;1.0;1.0	B;D;D;D	0.97110	0.325;0.999;1.0;1.0	T	0.07046	-1.0793	9	0.87932	D	0	.	6.4485	0.21890	0.0:0.0:1.0:0.0	.	108;230;230;230	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	Q	230;105;108;42;230	ENSP00000385869:P230Q;ENSP00000385081:P108Q;ENSP00000305005:P230Q	ENSP00000292109:P105Q	P	-	2	0	PSG8	47954014	0.816000	0.29132	0.145000	0.22337	0.062000	0.15995	2.279000	0.43435	0.835000	0.34877	0.298000	0.19748	CCA		0.527	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			183	496	1	0	8.39465e-107	1	1.27139e-106	183	496				
NPAS4	266743	broad.mit.edu	37	11	66192145	66192145	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:66192145G>A	ENST00000311034.2	+	7	1960	c.1784G>A	c.(1783-1785)cGg>cAg	p.R595Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	595					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCCCAGCTCCGGGGCCCCCTC	0.592																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1783-1785)cGg>cAg		neuronal PAS domain protein 4							64.0	74.0	71.0					11																	66192145		2199	4295	6494	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192145G>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1784G>A	11.37:g.66192145G>A	ENSP00000311196:p.Arg595Gln						p.R595Q	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1960	+			595					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.1784G>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835654	0.71373	.	.	ENSG00000174576	ENST00000311034	T	0.59772	0.24	4.69	4.69	0.59074	.	0.000000	0.50627	D	0.000112	T	0.59905	0.2228	N	0.24115	0.695	0.48341	D	0.999639	D	0.69078	0.997	D	0.70227	0.968	T	0.60031	-0.7342	10	0.45353	T	0.12	-13.1114	10.9271	0.47197	0.0:0.1898:0.8102:0.0	.	595	Q8IUM7	NPAS4_HUMAN	Q	595	ENSP00000311196:R595Q	ENSP00000311196:R595Q	R	+	2	0	NPAS4	65948721	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.955000	0.63638	2.443000	0.82685	0.655000	0.94253	CGG		0.592	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		88	126	0	0	0	1	0	88	126				
SLC13A3	64849	broad.mit.edu	37	20	45188830	45188830	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:45188830G>C	ENST00000279027.4	-	13	1658	c.1640C>G	c.(1639-1641)aCa>aGa	p.T547R	SLC13A3_ENST00000495082.1_Missense_Mutation_p.T500R|SLC13A3_ENST00000472148.1_Missense_Mutation_p.T465R|SLC13A3_ENST00000290317.5_Missense_Mutation_p.T500R|SLC13A3_ENST00000396360.1_Missense_Mutation_p.T465R|SLC13A3_ENST00000435032.1_Missense_Mutation_p.T132R|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T497R	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	547					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CAGGAGGCCTGTCCGCACCTG	0.562																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1639-1641)aCa>aGa		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						119.0	103.0	108.0					20																	45188830		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45188830G>C	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1640C>G	20.37:g.45188830G>C	ENSP00000279027:p.Thr547Arg					SLC13A3_ENST00000472148.1_Missense_Mutation_p.T465R|SLC13A3_ENST00000495082.1_Missense_Mutation_p.T500R|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T497R|SLC13A3_ENST00000396360.1_Missense_Mutation_p.T465R|SLC13A3_ENST00000435032.1_Missense_Mutation_p.T132R|SLC13A3_ENST00000290317.5_Missense_Mutation_p.T500R	p.T547R	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			13	1658	-		Myeloproliferative disorder(115;0.0122)	547					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.1640C>G	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398597	0.83120	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.02944	4.1;4.1;4.1;4.1;4.1;4.1;4.1	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	M	0.88377	2.95	0.80722	D	1	D;D;D;D;D;D	0.89917	0.996;1.0;0.995;0.997;0.999;0.998	D;D;D;D;D;D	0.76575	0.988;0.988;0.948;0.977;0.987;0.977	T	0.03566	-1.1024	10	0.87932	D	0	-4.2457	17.5054	0.87743	0.0:0.0:1.0:0.0	.	497;132;465;500;449;547	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	R	500;465;132;547;465;497;500	ENSP00000290317:T500R;ENSP00000379648:T465R;ENSP00000403394:T132R;ENSP00000279027:T547R;ENSP00000420177:T465R;ENSP00000415852:T497R;ENSP00000419621:T500R	ENSP00000279027:T547R	T	-	2	0	SLC13A3	44622237	1.000000	0.71417	0.823000	0.32752	0.964000	0.63967	9.263000	0.95617	2.324000	0.78689	0.561000	0.74099	ACA		0.562	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			46	101	0	0	0	1	0	46	101				
ESRRB	2103	broad.mit.edu	37	14	76957857	76957857	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:76957857C>G	ENST00000509242.1	+	7	953	c.855C>G	c.(853-855)atC>atG	p.I285M	ESRRB_ENST00000380887.2_Missense_Mutation_p.I285M|ESRRB_ENST00000261532.7_Missense_Mutation_p.I285M|ESRRB_ENST00000556177.1_Missense_Mutation_p.I285M	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	285					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		AAATCCTCATCCTGGGCATCG	0.622																																						ENST00000380887.2																			0				endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(853-855)atC>atG		estrogen-related receptor beta							57.0	42.0	47.0					14																	76957857		2203	4300	6503	SO:0001583	missense	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76957857C>G	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.855C>G	14.37:g.76957857C>G	ENSP00000422488:p.Ile285Met					ESRRB_ENST00000556177.1_Missense_Mutation_p.I285M|ESRRB_ENST00000261532.7_Missense_Mutation_p.I285M|ESRRB_ENST00000509242.1_Missense_Mutation_p.I285M	p.I285M			A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	6	927	+			285					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Missense_Mutation	SNP	ENST00000509242.1	37	c.855C>G	CCDS9850.2	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082395	0.36758	.	.	ENSG00000119715	ENST00000512784;ENST00000509242;ENST00000556177;ENST00000380887;ENST00000261532	D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19	6.02	6.02	0.97574	.	0.104902	0.64402	D	0.000004	D	0.96241	0.8774	L	0.35341	1.055	0.54753	D	0.999989	P;P	0.49783	0.928;0.858	D;D	0.70016	0.967;0.933	D	0.93888	0.7177	10	0.18710	T	0.47	.	14.6603	0.68865	0.0:0.9312:0.0:0.0688	.	285;290	Q5F0P7;E7EWD9	.;.	M	290;285;285;285;285	ENSP00000424992:I290M;ENSP00000422488:I285M;ENSP00000451658:I285M;ENSP00000370270:I285M;ENSP00000261532:I285M	ENSP00000261532:I285M	I	+	3	3	ESRRB	76027610	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.187000	0.42602	2.865000	0.98341	0.655000	0.94253	ATC		0.622	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			7	11	0	0	0	1	0	7	11				
BBS4	585	broad.mit.edu	37	15	73023941	73023941	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:73023941T>C	ENST00000268057.4	+	12	951	c.910T>C	c.(910-912)Tgg>Cgg	p.W304R	BBS4_ENST00000395205.2_Missense_Mutation_p.W312R|BBS4_ENST00000542334.1_Missense_Mutation_p.W132R|BBS4_ENST00000539603.1_Missense_Mutation_p.W292R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	304	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ACCCTTTGATTGGAAGATTCT	0.468									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(910-912)Tgg>Cgg		Bardet-Biedl syndrome 4							126.0	121.0	122.0					15																	73023941		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73023941T>C	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.910T>C	15.37:g.73023941T>C	ENSP00000268057:p.Trp304Arg					BBS4_ENST00000395205.2_Missense_Mutation_p.W312R|BBS4_ENST00000539603.1_Missense_Mutation_p.W292R|BBS4_ENST00000542334.1_Missense_Mutation_p.W132R	p.W304R	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN			12	951	+			304			Interaction with PCM1.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.910T>C	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781582	0.70222	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.85	5.85	0.93711	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.79713	0.4493	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.997;1.0;0.998	T	0.79895	-0.1610	10	0.25106	T	0.35	-7.2997	16.2421	0.82418	0.0:0.0:0.0:1.0	.	292;304;312;304	F5H7I8;B2RB60;Q96RK4-2;Q96RK4	.;.;.;BBS4_HUMAN	R	132;304;292;312	ENSP00000445964:W132R;ENSP00000268057:W304R;ENSP00000442492:W292R;ENSP00000378631:W312R	ENSP00000268057:W304R	W	+	1	0	BBS4	70810994	1.000000	0.71417	0.954000	0.39281	0.914000	0.54420	6.051000	0.71072	2.234000	0.73211	0.533000	0.62120	TGG		0.468	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		20	110	0	0	0	1	0	20	110				
ERMAP	114625	broad.mit.edu	37	1	43308322	43308322	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:43308322C>G	ENST00000372517.2	+	12	1091	c.847C>G	c.(847-849)Cta>Gta	p.L283V	ERMAP_ENST00000487556.1_3'UTR|ERMAP_ENST00000328249.3_Missense_Mutation_p.L193V|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.L283V|RP11-342M1.3_ENST00000414798.1_RNA|RP11-342M1.3_ENST00000416809.2_RNA	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	283	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGTCAGCATCCTAGGCTCTGA	0.498																																						ENST00000328249.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(577-579)Cta>Gta		erythroblast membrane-associated protein (Scianna blood group)							161.0	144.0	150.0					1																	43308322		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43308322C>G	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.847C>G	1.37:g.43308322C>G	ENSP00000361595:p.Leu283Val					ERMAP_ENST00000372514.3_Missense_Mutation_p.L283V|ERMAP_ENST00000372517.2_Missense_Mutation_p.L283V|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.2_ENST00000416809.2_RNA|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.4_ENST00000414798.1_RNA	p.L193V			Q96PL5	ERMAP_HUMAN			9	1615	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	283		Missing (in Sc-3 allele).			D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.577C>G	CCDS475.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667394	0.47677	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.32515	1.45;1.45;1.45	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.53938	D	0.000057	T	0.61211	0.2329	M	0.89715	3.055	0.33406	D	0.578048	D	0.76494	0.999	D	0.80764	0.994	T	0.75622	-0.3254	10	0.56958	D	0.05	.	13.4735	0.61295	0.0:1.0:0.0:0.0	.	283	Q96PL5	ERMAP_HUMAN	V	283;283;193	ENSP00000361595:L283V;ENSP00000361592:L283V;ENSP00000332439:L193V	ENSP00000332439:L193V	L	+	1	2	ERMAP	43080909	0.468000	0.25839	1.000000	0.80357	0.446000	0.32137	1.116000	0.31221	2.559000	0.86315	0.563000	0.77884	CTA		0.498	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		72	74	0	0	0	1	0	72	74				
EIF3E	3646	broad.mit.edu	37	8	109260897	109260897	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:109260897T>G	ENST00000220849.5	-	1	97	c.35A>C	c.(34-36)cAc>cCc	p.H12P	EIF3E_ENST00000519030.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			ATCCAAAAAGTGCGCGATGCG	0.517																																					GBM(15;360 410 8460 34179 52246)	ENST00000220849.5																		EIF3E/RSPO2(6)	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(34-36)cAc>cCc		eukaryotic translation initiation factor 3, subunit E							98.0	89.0	92.0					8																	109260897		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109260897T>G	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.35A>C	8.37:g.109260897T>G	ENSP00000220849:p.His12Pro					EIF3E_ENST00000519030.1_5'UTR	p.H12P	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		1	97	-			12			Sufficient for interaction with EPAS1.|Sufficient for interaction with TRIM27.			Missense_Mutation	SNP	ENST00000220849.5	37	c.35A>C	CCDS6308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.99|18.99	3.739643|3.739643	0.69304|0.69304	.|.	.|.	ENSG00000104408|ENSG00000104408	ENST00000220849;ENST00000519627|ENST00000521440;ENST00000521297	T;T|.	0.39406|.	1.15;1.08|.	5.28|5.28	4.1|4.1	0.47936|0.47936	Eukaryotic translation initiation factor 3 (eIF3), subunit 6, N-terminal (1);|.	0.046925|.	0.85682|.	D|.	0.000000|.	T|T	0.16981|0.16981	0.0408|0.0408	N|N	0.01197|0.01197	-0.965|-0.965	0.80722|0.80722	D|D	1|1	B;B;B|.	0.22146|.	0.0;0.065;0.0|.	B;B;B|.	0.25405|.	0.001;0.06;0.0|.	T|T	0.04961|0.04961	-1.0915|-1.0915	10|5	0.02654|.	T|.	1|.	-16.9609|-16.9609	6.5794|6.5794	0.22585|0.22585	0.1394:0.0755:0.0:0.7851|0.1394:0.0755:0.0:0.7851	.|.	12;12;12|.	Q6IAX5;B2R806;P60228|.	.;.;EIF3E_HUMAN|.	P|P	12|11;1	ENSP00000220849:H12P;ENSP00000430839:H12P|.	ENSP00000220849:H12P|.	H|T	-|-	2|1	0|0	EIF3E|EIF3E	109330073|109330073	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	4.751000|4.751000	0.62169|0.62169	0.983000|0.983000	0.38602|0.38602	0.533000|0.533000	0.62120|0.62120	CAC|ACT		0.517	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568		62	65	0	0	0	1	0	62	65				
ABCA8	10351	broad.mit.edu	37	17	66871463	66871463	+	Silent	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:66871463T>A	ENST00000269080.2	-	35	4586	c.4449A>T	c.(4447-4449)gcA>gcT	p.A1483A	ABCA8_ENST00000586539.1_Silent_p.A1523A|ABCA8_ENST00000430352.2_Silent_p.A1523A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1483					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCTCCACTTGTGCCAGGTTCT	0.488																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(4447-4449)gcA>gcT		ATP-binding cassette, sub-family A (ABC1), member 8							99.0	87.0	91.0					17																	66871463		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66871463T>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4449A>T	17.37:g.66871463T>A						ABCA8_ENST00000430352.2_Silent_p.A1523A|ABCA8_ENST00000586539.1_Silent_p.A1523A	p.A1483A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			35	4586	-	Breast(10;4.56e-13)		1483					A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.4449A>T	CCDS11680.1																																																																																				0.488	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		33	67	0	0	0	1	0	33	67				
OR52E6	390078	broad.mit.edu	37	11	5862348	5862348	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:5862348G>A	ENST00000329322.5	-	1	779	c.780C>T	c.(778-780)ttC>ttT	p.F260F	OR52E6_ENST00000379946.2_Silent_p.F264F|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGTGTAAAGAAAGAGAAAA	0.443																																						ENST00000329322.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(778-780)ttC>ttT		olfactory receptor, family 52, subfamily E, member 6							76.0	78.0	77.0					11																	5862348		2174	4291	6465	SO:0001819	synonymous_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862348G>A	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.780C>T	11.37:g.5862348G>A						TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.F264F	p.F260F	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	779	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	260					Q6IFF8	Silent	SNP	ENST00000329322.5	37	c.780C>T	CCDS53597.1																																																																																				0.443	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		23	20	0	0	0	1	0	23	20				
PAX1	5075	broad.mit.edu	37	20	21689289	21689289	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:21689289T>A	ENST00000398485.2	+	3	1064	c.1010T>A	c.(1009-1011)gTg>gAg	p.V337E	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.V313E	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	337					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACCCCCGCAGTGAATGGGCTA	0.602																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1009-1011)gTg>gAg		paired box 1							37.0	42.0	40.0					20																	21689289		2202	4300	6502	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689289T>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1010T>A	20.37:g.21689289T>A	ENSP00000381499:p.Val337Glu					PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.V313E	p.V337E	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			3	1064	+			337					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.1010T>A	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273633	0.59649	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.99042	-4.94;-5.36	5.41	4.31	0.51392	.	0.062159	0.64402	D	0.000005	D	0.98988	0.9655	M	0.78801	2.425	0.44042	D	0.996772	D;D;D	0.76494	0.982;0.993;0.999	P;P;D	0.66196	0.865;0.723;0.942	D	0.99198	1.0872	10	0.72032	D	0.01	.	10.666	0.45731	0.0:0.076:0.0:0.924	.	313;243;337	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	E	337;313	ENSP00000381499:V337E;ENSP00000410355:V313E	ENSP00000381499:V337E	V	+	2	0	PAX1	21637289	1.000000	0.71417	0.823000	0.32752	0.199000	0.23934	4.684000	0.61686	0.897000	0.36392	0.374000	0.22700	GTG		0.602	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			23	60	0	0	0	1	0	23	60				
LRP1B	53353	broad.mit.edu	37	2	141751612	141751612	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:141751612C>A	ENST00000389484.3	-	16	3567	c.2596G>T	c.(2596-2598)Ggc>Tgc	p.G866C	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	866	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCGTCGCCATCACATTTC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2596-2598)Ggc>Tgc		low density lipoprotein receptor-related protein 1B							134.0	126.0	129.0					2																	141751612		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141751612C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2596G>T	2.37:g.141751612C>A	ENSP00000374135:p.Gly866Cys	TSP Lung(27;0.18)					p.G866C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	16	3567	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	866			LDL-receptor class A 3.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2596G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244821	0.79912	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96992	-4.2	5.8	5.8	0.92144	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98982	0.9653	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99139	1.0855	10	0.87932	D	0	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	866	Q9NZR2	LRP1B_HUMAN	C	866;804	ENSP00000374135:G866C	ENSP00000374135:G866C	G	-	1	0	LRP1B	141468082	1.000000	0.71417	0.952000	0.39060	0.334000	0.28698	7.727000	0.84838	2.730000	0.93505	0.563000	0.77884	GGC		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		25	73	1	0	3.6726e-16	1	4.75355e-16	25	73				
GBP5	115362	broad.mit.edu	37	1	89732735	89732735	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:89732735A>G	ENST00000370459.3	-	5	657	c.530T>C	c.(529-531)gTg>gCg	p.V177A	GBP5_ENST00000343435.5_Missense_Mutation_p.V177A|RP4-620F22.2_ENST00000437128.1_RNA			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	177	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CAGAGTCCACACTAAGTCTGG	0.483																																						ENST00000343435.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24						c.(529-531)gTg>gCg		guanylate binding protein 5							131.0	132.0	132.0					1																	89732735		2203	4300	6503	SO:0001583	missense	115362					plasma membrane	GTP binding|GTPase activity	g.chr1:89732735A>G	AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.530T>C	1.37:g.89732735A>G	ENSP00000359488:p.Val177Ala					GBP5_ENST00000370459.3_Missense_Mutation_p.V177A|RP4-620F22.2_ENST00000437128.1_RNA	p.V177A	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN		all cancers(265;0.00784)|Epithelial(280;0.0286)	6	1066	-			177					B2RCE1|Q86TM5	Missense_Mutation	SNP	ENST00000370459.3	37	c.530T>C	CCDS722.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684799	0.88639	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.76448	-1.02;-1.02;-1.02	4.5	4.5	0.54988	Guanylate-binding protein, N-terminal (1);	0.159054	0.44902	D	0.000403	D	0.88299	0.6399	M	0.94142	3.5	0.33191	D	0.550866	D	0.89917	1.0	D	0.80764	0.994	D	0.89768	0.3952	10	0.59425	D	0.04	-19.853	12.1998	0.54319	1.0:0.0:0.0:0.0	.	177	Q96PP8	GBP5_HUMAN	A	177	ENSP00000340396:V177A;ENSP00000359488:V177A;ENSP00000403010:V177A	ENSP00000340396:V177A	V	-	2	0	GBP5	89505323	0.994000	0.37717	1.000000	0.80357	0.964000	0.63967	6.414000	0.73318	2.055000	0.61198	0.369000	0.22263	GTG		0.483	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027700.1	NM_052942		6	126	0	0	0	1	0	6	126				
TRIB2	28951	broad.mit.edu	37	2	12880894	12880894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:12880894G>T	ENST00000155926.4	+	3	2425	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*	TRIB2_ENST00000381465.2_Nonsense_Mutation_p.E200*	NM_021643.3	NP_067675.1			tribbles pseudokinase 2											breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAACATGGAAGAGAACTTGGA	0.522																																						ENST00000155926.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19						c.(1006-1008)Gag>Tag		tribbles pseudokinase 2							76.0	71.0	73.0					2																	12880894		2203	4300	6503	SO:0001587	stop_gained	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12880894G>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000155926.4:c.1006G>T	2.37:g.12880894G>T	ENSP00000155926:p.Glu336*					TRIB2_ENST00000381465.2_Nonsense_Mutation_p.E200*	p.E336*	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN			3	2425	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		336						Nonsense_Mutation	SNP	ENST00000155926.4	37	c.1006G>T	CCDS1683.1	.	.	.	.	.	.	.	.	.	.	G	37	6.063144	0.97246	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	.	.	.	5.94	5.94	0.96194	.	0.089067	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-27.8787	19.354	0.94404	0.0:0.0:1.0:0.0	.	.	.	.	X	336;200	.	ENSP00000155926:E336X	E	+	1	0	TRIB2	12798345	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.031000	0.88826	2.820000	0.97059	0.650000	0.86243	GAG		0.522	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207114.2	NM_021643		36	62	1	0	6.97489e-18	1	9.19074e-18	36	62				
WDR17	116966	broad.mit.edu	37	4	177098223	177098223	+	Missense_Mutation	SNP	G	G	T	rs148628975	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:177098223G>T	ENST00000280190.4	+	29	3737	c.3581G>T	c.(3580-3582)cGt>cTt	p.R1194L	WDR17_ENST00000393643.2_Missense_Mutation_p.R1170L|WDR17_ENST00000507824.2_Missense_Mutation_p.R1169L|WDR17_ENST00000508596.1_Missense_Mutation_p.R1155L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1194										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTATTAAAACGTCGGGAGGTG	0.353													G|||	3	0.000599042	0.0023	0.0	5008	,	,		16046	0.0		0.0	False		,,,				2504	0.0					ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(3508-3510)cGt>cTt		WD repeat domain 17		G	LEU/ARG,LEU/ARG	20,4386	27.2+/-55.0	0,20,2183	67.0	67.0	67.0		3581,3464	5.8	1.0	4	dbSNP_134	67	0,8600		0,0,4300	yes	missense,missense	WDR17	NM_170710.4,NM_181265.3	102,102	0,20,6483	TT,TG,GG		0.0,0.4539,0.1538	probably-damaging,probably-damaging	1194/1323,1155/1284	177098223	20,12986	2203	4300	6503	SO:0001583	missense	116966							g.chr4:177098223G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3581G>T	4.37:g.177098223G>T	ENSP00000280190:p.Arg1194Leu					WDR17_ENST00000508596.1_Missense_Mutation_p.R1155L|WDR17_ENST00000507824.2_Missense_Mutation_p.R1169L|WDR17_ENST00000280190.4_Missense_Mutation_p.R1194L	p.R1170L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	28	3761	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	1194					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.3509G>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	33	5.269695	0.95429	0.004539	0.0	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.58940	0.3;0.3;0.3	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	M	0.72118	2.19	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	P;D;D	0.80764	0.724;0.994;0.994	T	0.77635	-0.2514	10	0.72032	D	0.01	-23.5427	20.2184	0.98308	0.0:0.0:1.0:0.0	.	1170;1155;1194	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	L	1155;1170;1194;1170	ENSP00000422763:R1155L;ENSP00000377258:R1170L;ENSP00000280190:R1194L	ENSP00000280190:R1194L	R	+	2	0	WDR17	177335217	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.056000	0.76662	2.775000	0.95449	0.644000	0.83932	CGT		0.353	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			14	16	1	0	2.62699e-14	1	3.28937e-14	14	16				
TTN	7273	broad.mit.edu	37	2	179434884	179434884	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:179434884C>A	ENST00000591111.1	-	276	71276	c.71052G>T	c.(71050-71052)tgG>tgT	p.W23684C	TTN_ENST00000460472.2_Missense_Mutation_p.W16260C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W22757C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W16452C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W25325C|TTN_ENST00000359218.5_Missense_Mutation_p.W16385C			Q8WZ42	TITIN_HUMAN	titin	23684	Fibronectin type-III 72. {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)			CTGGTCTTTCCCATACAACAA	0.428																																						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.(75973-75975)tgG>tgT		titin							159.0	147.0	151.0					2																	179434884		1942	4149	6091	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434884C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71052G>T	2.37:g.179434884C>A	ENSP00000465570:p.Trp23684Cys					TTN_ENST00000591111.1_Missense_Mutation_p.W23684C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W16260C|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W22757C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W16452C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W16385C	p.W25325C	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)		326	76199	-			23684			Ig-like 124.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75975G>T		.	.	.	.	.	.	.	.	.	.	C	12.74	2.029623	0.35797	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97123	0.9060	H	0.99764	4.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.98448	1.0590	9	0.87932	D	0	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	16260;16385;16452;23684	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22757;16260;16452;16385;16258	ENSP00000343764:W22757C;ENSP00000434586:W16260C;ENSP00000340554:W16452C;ENSP00000352154:W16385C	ENSP00000340554:W16452C	W	-	3	0	TTN	179143130	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.770000	0.95276	0.650000	0.86243	TGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		40	45	1	0	4.00102e-26	1	5.61681e-26	40	45				
RNF10	9921	broad.mit.edu	37	12	120972711	120972711	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:120972711G>T	ENST00000325954.4	+	1	558	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W	RNF10_ENST00000413266.2_Missense_Mutation_p.G33W	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	33	Ser-rich.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCAGCAAAGGGCAACAGCC	0.711																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(97-99)Ggg>Tgg		ring finger protein 10							15.0	21.0	19.0					12																	120972711		2181	4268	6449	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120972711G>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.97G>T	12.37:g.120972711G>T	ENSP00000322242:p.Gly33Trp					RNF10_ENST00000413266.2_Missense_Mutation_p.G33W	p.G33W	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			1	558	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		33			Ser-rich.		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.97G>T	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161002	0.78226	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266	D;D	0.89343	-2.5;-2.5	5.08	5.08	0.68730	.	0.865651	0.10526	N	0.664385	D	0.91593	0.7344	L	0.34521	1.04	0.44439	D	0.997365	D	0.67145	0.996	P	0.62885	0.908	D	0.90263	0.4302	10	0.66056	D	0.02	.	18.2665	0.90054	0.0:0.0:1.0:0.0	.	33	Q8N5U6	RNF10_HUMAN	W	33	ENSP00000322242:G33W;ENSP00000415682:G33W	ENSP00000322242:G33W	G	+	1	0	RNF10	119457094	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	3.576000	0.53878	2.644000	0.89710	0.561000	0.74099	GGG		0.711	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			9	23	1	0	0.0692343	1	0.0698081	9	23				
NYAP2	57624	broad.mit.edu	37	2	226447444	226447444	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:226447444C>A	ENST00000272907.6	+	4	1724	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	437	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CCACCTCTCCCTCCCCCGTCA	0.642																																						ENST00000272907.6																			0											c.(1309-1311)ccC>ccA		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							33.0	38.0	37.0					2																	226447444		2017	4184	6201	SO:0001819	synonymous_variant	57624							g.chr2:226447444C>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1311C>A	2.37:g.226447444C>A						NYAP2_ENST00000409269.2_Intron	p.P437P	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1724	+			437			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.1311C>A	CCDS46529.1																																																																																				0.642	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		27	24	1	0	1.42536e-11	1	1.71137e-11	27	24				
IGSF5	150084	broad.mit.edu	37	21	41142994	41142994	+	Silent	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr21:41142994T>C	ENST00000380588.4	+	4	673	c.570T>C	c.(568-570)gtT>gtC	p.V190V	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	190	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ATTATTTTGTTCCGGAGCCCA	0.542																																						ENST00000380588.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23						c.(568-570)gtT>gtC		immunoglobulin superfamily, member 5							74.0	72.0	73.0					21																	41142994		2203	4300	6503	SO:0001819	synonymous_variant	150084					integral to membrane|tight junction		g.chr21:41142994T>C		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.570T>C	21.37:g.41142994T>C						IGSF5_ENST00000479378.1_3'UTR	p.V190V	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN			4	673	+		Prostate(19;5.35e-06)	190			Ig-like V-type 2.			Silent	SNP	ENST00000380588.4	37	c.570T>C	CCDS33562.1																																																																																				0.542	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1			33	46	0	0	0	1	0	33	46				
ATP13A4	84239	broad.mit.edu	37	3	193171890	193171890	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:193171890C>A	ENST00000342695.4	-	17	2349	c.2027G>T	c.(2026-2028)aGg>aTg	p.R676M	ATP13A4_ENST00000392443.3_Splice_Site_p.R657M	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	676						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCCCATTTACCTCGTCAAGGT	0.448																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.e17+1		ATPase type 13A4							125.0	105.0	112.0					3																	193171890		2203	4300	6503	SO:0001630	splice_region_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193171890C>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2027+1G>T	3.37:g.193171890C>A						ATP13A4_ENST00000392443.3_Splice_Site_p.R657_splice	p.R676_splice	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	17	2349	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		676					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Splice_Site	SNP	ENST00000342695.4	37	c.2027_splice	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048023	0.55110	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.57436	0.4;0.4	6.17	6.17	0.99709	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.83774	2.66	0.80722	D	1	D;D;D	0.67145	0.996;0.995;0.995	D;P;D	0.72075	0.974;0.902;0.976	T	0.75425	-0.3322	9	.	.	.	-17.0556	18.3732	0.90420	0.0:1.0:0.0:0.0	.	657;676;676	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	M	657;676	ENSP00000376238:R657M;ENSP00000339182:R676M	.	R	-	2	0	ATP13A4	194654584	1.000000	0.71417	0.998000	0.56505	0.087000	0.18053	4.858000	0.62947	2.941000	0.99782	0.655000	0.94253	AGG		0.448	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279	Missense_Mutation	36	50	1	0	3.21399e-22	1	4.44359e-22	36	50				
LOC100130331	100130331	broad.mit.edu	37	1	238090561	238090561	+	RNA	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:238090561C>T	ENST00000450451.1	+	0	2067					NR_027247.2																						CCCTCTACGCCTCTGGGCGCA	0.592																																						ENST00000450451.1																			0																																																			100130331							g.chr1:238090561C>T																													1.37:g.238090561C>T								NR_027247.2						0	2067	+									RNA	SNP	ENST00000450451.1	37																																																																																						0.592	RP11-193H5.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095477.1			58	42	0	0	0	1	0	58	42				
HIST1H3D	8351	broad.mit.edu	37	6	26197415	26197415	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:26197415C>A	ENST00000356476.2	-	1	63	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	HIST1H3D_ENST00000377831.5_Missense_Mutation_p.A22S|HIST1H2BF_ENST00000359985.1_5'Flank			P68431	H31_HUMAN	histone cluster 1, H3d	22					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCCTTGGTGGCCAGCTGCTTG	0.622																																					GBM(108;3816 4467)	ENST00000377831.5																			0				NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14						c.(64-66)Gcc>Tcc		histone cluster 1, H3d							47.0	52.0	50.0					6																	26197415		2202	4300	6502	SO:0001583	missense	8351				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26197415C>A	Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"""Histones / Replication-dependent"""	4767	protein-coding gene	gene with protein product		602811	"""H3 histone family, member B"", ""histone 1, H3d"""	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.64G>T	6.37:g.26197415C>A	ENSP00000366999:p.Ala22Ser					HIST1H3D_ENST00000356476.2_Missense_Mutation_p.A22S	p.A22S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN			2	517	-		all_hematologic(11;0.196)	22					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000356476.2	37	c.64G>T	CCDS4590.1	.	.	.	.	.	.	.	.	.	.	.	11.31	1.600369	0.28534	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.46451	0.87;0.87	4.14	4.14	0.48551	.	.	.	.	.	T	0.49847	0.1581	.	.	.	0.39435	D	0.967158	.	.	.	.	.	.	T	0.56896	-0.7903	6	0.62326	D	0.03	.	15.7622	0.78091	0.0:1.0:0.0:0.0	.	.	.	.	S	22	ENSP00000366999:A22S;ENSP00000367062:A22S	ENSP00000366999:A22S	A	-	1	0	HIST1H3D	26305394	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	5.655000	0.67981	2.013000	0.59113	0.655000	0.94253	GCC		0.622	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040096.1	NM_003530		53	90	1	0	9.57592e-29	1	1.36266e-28	53	90				
FER1L6	654463	broad.mit.edu	37	8	125052131	125052131	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:125052131G>A	ENST00000522917.1	+	20	2679	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	FER1L6_ENST00000399018.1_Missense_Mutation_p.V825I|FER1L6-AS1_ENST00000518567.1_RNA|RP11-959I15.4_ENST00000522005.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	825	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAACAGCATGTTTTTCAGCT	0.498																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2473-2475)Gtt>Att		fer-1-like 6 (C. elegans)							113.0	120.0	118.0					8																	125052131		2030	4198	6228	SO:0001583	missense	654463					integral to membrane		g.chr8:125052131G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2473G>A	8.37:g.125052131G>A	ENSP00000428280:p.Val825Ile					FER1L6_ENST00000399018.1_Missense_Mutation_p.V825I|RP11-959I15.4_ENST00000522005.1_RNA|FER1L6-AS1_ENST00000518567.1_RNA	p.V825I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		20	2679	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		825			C2 3.			Missense_Mutation	SNP	ENST00000522917.1	37	c.2473G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	9.732	1.162505	0.21538	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.66099	-0.19;-0.19	5.64	-8.07	0.01098	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.813096	0.11095	U	0.600326	T	0.35364	0.0929	N	0.16266	0.395	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20806	-1.0264	10	0.22109	T	0.4	.	9.2519	0.37560	0.5687:0.1741:0.2573:0.0	.	825	Q2WGJ9	FR1L6_HUMAN	I	825	ENSP00000428280:V825I;ENSP00000381982:V825I	ENSP00000381982:V825I	V	+	1	0	FER1L6	125121312	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.676000	0.00840	-1.188000	0.02705	-0.440000	0.05779	GTT		0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		23	134	0	0	0	1	0	23	134				
AFF1	4299	broad.mit.edu	37	4	88026817	88026817	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:88026817G>T	ENST00000307808.6	+	8	1720	c.1300G>T	c.(1300-1302)Gac>Tac	p.D434Y	AFF1_ENST00000395146.4_Missense_Mutation_p.D441Y|AFF1_ENST00000544085.1_Missense_Mutation_p.D72Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	434					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TGACAGTGAGGACAGTGACAG	0.423																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(1300-1302)Gac>Tac		AF4/FMR2 family, member 1							200.0	190.0	194.0					4																	88026817		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88026817G>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1300G>T	4.37:g.88026817G>T	ENSP00000305689:p.Asp434Tyr					AFF1_ENST00000544085.1_Missense_Mutation_p.D72Y|AFF1_ENST00000395146.4_Missense_Mutation_p.D441Y	p.D434Y	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	8	1720	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	434					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1300G>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304842	0.60305	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000541943;ENST00000503477;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.91	5.91	0.95273	.	0.150479	0.47093	D	0.000242	D	0.83321	0.5229	M	0.78456	2.415	0.43863	D	0.996463	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.72338	0.977;0.977;0.977;0.977	D	0.84776	0.0770	10	0.87932	D	0	-22.7192	13.4829	0.61348	0.0708:0.0:0.9291:0.0	.	441;412;434;434	E9PBM3;B4DXZ8;Q14C88;P51825	.;.;.;AFF1_HUMAN	Y	441;412;95;412;434;72;72;125	ENSP00000378578:D441Y;ENSP00000424483:D412Y;ENSP00000305689:D434Y;ENSP00000424766:D72Y;ENSP00000440843:D72Y;ENSP00000424881:D125Y	ENSP00000305689:D434Y	D	+	1	0	AFF1	88245841	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.943000	0.63554	2.793000	0.96121	0.655000	0.94253	GAC		0.423	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		42	60	1	0	1.00776e-21	1	1.38282e-21	42	60				
TTBK1	84630	broad.mit.edu	37	6	43220480	43220480	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:43220480A>T	ENST00000259750.4	+	3	195	c.112A>T	c.(112-114)Aaa>Taa	p.K38*	TTBK1_ENST00000304139.5_5'UTR	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	38	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTCATAGCTGAAAAAGATCGG	0.587																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(112-114)Aaa>Taa		tau tubulin kinase 1							34.0	37.0	36.0					6																	43220480		2203	4300	6503	SO:0001587	stop_gained	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43220480A>T	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.112A>T	6.37:g.43220480A>T	ENSP00000259750:p.Lys38*					TTBK1_ENST00000304139.5_5'UTR	p.K38*	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		3	195	+			38			Protein kinase.		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Nonsense_Mutation	SNP	ENST00000259750.4	37	c.112A>T	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	33	5.264110	0.95399	.	.	ENSG00000146216	ENST00000259750	.	.	.	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9129	0.58190	1.0:0.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000259750:K38X	K	+	1	0	TTBK1	43328458	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.963000	0.76055	1.702000	0.51228	0.260000	0.18958	AAA		0.587	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			32	38	0	0	0	1	0	32	38				
RASL10B	91608	broad.mit.edu	37	17	34068216	34068216	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:34068216G>A	ENST00000268864.3	+	4	881	c.504G>A	c.(502-504)ctG>ctA	p.L168L		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	168	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATCCTGCTGCTCTTCAGCG	0.662																																						ENST00000268864.3																			0				breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(502-504)ctG>ctA		RAS-like, family 10, member B							74.0	51.0	59.0					17																	34068216		2203	4300	6503	SO:0001819	synonymous_variant	91608				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr17:34068216G>A	BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.504G>A	17.37:g.34068216G>A							p.L168L	NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	881	+			168			Small GTPase-like.		B3KV31	Silent	SNP	ENST00000268864.3	37	c.504G>A	CCDS11297.1																																																																																				0.662	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	NM_033315		21	59	0	0	0	1	0	21	59				
ABCA8	10351	broad.mit.edu	37	17	66877284	66877284	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:66877284C>T	ENST00000269080.2	-	30	4032	c.3895G>A	c.(3895-3897)Gac>Aac	p.D1299N	ABCA8_ENST00000586539.1_Missense_Mutation_p.D1339N|ABCA8_ENST00000430352.2_Missense_Mutation_p.D1339N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1299	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTTTTGTGTCTCCAGTTATC	0.328																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(3895-3897)Gac>Aac		ATP-binding cassette, sub-family A (ABC1), member 8							137.0	122.0	127.0					17																	66877284		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66877284C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3895G>A	17.37:g.66877284C>T	ENSP00000269080:p.Asp1299Asn					ABCA8_ENST00000430352.2_Missense_Mutation_p.D1339N|ABCA8_ENST00000586539.1_Missense_Mutation_p.D1339N	p.D1299N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			30	4032	-	Breast(10;4.56e-13)		1299			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.3895G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555220	0.86231	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	T;T	0.13538	2.58;2.58	4.3	4.3	0.51218	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.126137	0.35235	N	0.003357	T	0.19327	0.0464	N	0.12182	0.205	0.50813	D	0.999896	D;P;D	0.57571	0.958;0.896;0.98	P;P;P	0.62740	0.875;0.802;0.906	T	0.15723	-1.0427	10	0.72032	D	0.01	.	16.2756	0.82642	0.0:1.0:0.0:0.0	.	1339;1339;1299	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	N	1299;1339	ENSP00000269080:D1299N;ENSP00000402814:D1339N	ENSP00000269080:D1299N	D	-	1	0	ABCA8	64388879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.122000	0.64697	2.398000	0.81561	0.655000	0.94253	GAC		0.328	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		25	32	0	0	0	1	0	25	32				
CCDC102B	79839	broad.mit.edu	37	18	66504330	66504330	+	Silent	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:66504330A>T	ENST00000360242.5	+	2	447	c.330A>T	c.(328-330)cgA>cgT	p.R110R	CCDC102B_ENST00000584156.1_Silent_p.R110R|CCDC102B_ENST00000358653.5_Silent_p.R110R|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000319445.6_Silent_p.R110R	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	110										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTAAAGTTCGAGCTGAAAGGA	0.463																																						ENST00000360242.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(328-330)cgA>cgT		coiled-coil domain containing 102B							89.0	88.0	88.0					18																	66504330		1943	4129	6072	SO:0001819	synonymous_variant	79839							g.chr18:66504330A>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.330A>T	18.37:g.66504330A>T						CCDC102B_ENST00000584156.1_Silent_p.R110R|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Silent_p.R110R|CCDC102B_ENST00000319445.6_Silent_p.R110R	p.R110R	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN			2	447	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	110					Q7Z467|Q8NDK7|Q9H5C1	Silent	SNP	ENST00000360242.5	37	c.330A>T	CCDS11996.2																																																																																				0.463	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		38	30	0	0	0	1	0	38	30				
OR1S1	219959	broad.mit.edu	37	11	57983029	57983029	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:57983029G>T	ENST00000309433.6	+	1	813	c.813G>T	c.(811-813)gtG>gtT	p.V271V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TTGTAGGCGTGTACTTTTTCC	0.483																																						ENST00000309433.6																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(811-813)gtG>gtT		olfactory receptor, family 1, subfamily S, member 1							156.0	129.0	138.0					11																	57983029		2201	4295	6496	SO:0001819	synonymous_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57983029G>T	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.813G>T	11.37:g.57983029G>T							p.V271V	NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN			1	813	+		Breast(21;0.0589)	271					Q6IFG3	Silent	SNP	ENST00000309433.6	37	c.813G>T	CCDS31546.1																																																																																				0.483	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458		30	85	1	0	1.08312e-15	1	1.38715e-15	30	85				
SLC4A11	83959	broad.mit.edu	37	20	3212001	3212001	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:3212001G>A	ENST00000380056.3	-	7	1018	c.971C>T	c.(970-972)tCc>tTc	p.S324F	SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000539553.2_Missense_Mutation_p.S308F|SLC4A11_ENST00000380059.3_Missense_Mutation_p.S351F	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	324				S -> P (in Ref. 2; BAC11536). {ECO:0000305}.	bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGCAGGGAGGGAGACTGTGCT	0.662																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(1051-1053)tCc>tTc		solute carrier family 4, sodium borate transporter, member 11							65.0	65.0	65.0					20																	3212001		2203	4300	6503	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3212001G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.971C>T	20.37:g.3212001G>A	ENSP00000369396:p.Ser324Phe					SLC4A11_ENST00000380056.3_Missense_Mutation_p.S324F|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.S308F	p.S351F	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			8	1153	-			324					B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.1052C>T	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919507	0.52653	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553;ENST00000437836	D;D;D;D	0.82711	-1.58;-1.57;-1.57;-1.64	5.3	4.33	0.51752	.	2.308170	0.01432	N	0.014794	T	0.80717	0.4676	N	0.08118	0	0.28290	N	0.9236	P;P;P	0.52061	0.95;0.947;0.917	P;B;P	0.52554	0.702;0.359;0.603	T	0.72178	-0.4369	10	0.62326	D	0.03	.	11.8986	0.52669	0.0:0.1758:0.8241:0.0	.	308;351;324	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	F	351;324;308;308	ENSP00000369399:S351F;ENSP00000369396:S324F;ENSP00000441370:S308F;ENSP00000404271:S308F	ENSP00000369396:S324F	S	-	2	0	SLC4A11	3160001	0.997000	0.39634	0.054000	0.19295	0.006000	0.05464	4.279000	0.58953	1.200000	0.43188	0.563000	0.77884	TCC		0.662	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			33	48	0	0	0	1	0	33	48				
LAMA4	3910	broad.mit.edu	37	6	112575275	112575275	+	Silent	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:112575275G>C	ENST00000230538.7	-	2	475	c.78C>G	c.(76-78)tcC>tcG	p.S26S	RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000453937.2_Silent_p.S26S|LAMA4_ENST00000424408.2_Silent_p.S26S|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000389463.4_Silent_p.S26S|RP11-506B6.6_ENST00000590584.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000590804.1_RNA|LAMA4_ENST00000431543.2_Silent_p.S26S|LAMA4_ENST00000522006.1_Silent_p.S26S|LAMA4_ENST00000368638.4_Silent_p.S26S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	26					blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGTCGTCCCCGGACGCGGCGC	0.642																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(76-78)tcC>tcG		laminin, alpha 4																																				SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112575275G>C		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.78C>G	6.37:g.112575275G>C						RP11-506B6.6_ENST00000588837.1_RNA|LAMA4_ENST00000431543.2_Silent_p.S26S|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|LAMA4_ENST00000453937.2_Silent_p.S26S|LAMA4_ENST00000368638.4_Silent_p.S26S|RP11-506B6.6_ENST00000433684.2_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000424408.2_Silent_p.S26S|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590584.1_RNA|LAMA4_ENST00000389463.4_Silent_p.S26S|LAMA4_ENST00000522006.1_Silent_p.S26S	p.S26S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	2	475	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	26					Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.78C>G	CCDS43491.1																																																																																				0.642	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		7	18	0	0	0	1	0	7	18				
OR4M2	390538	broad.mit.edu	37	15	22368694	22368694	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:22368694C>T	ENST00000332663.2	+	1	217	c.119C>T	c.(118-120)cCa>cTa	p.P40L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTCATCCTACCAGGAAATATC	0.418																																						ENST00000332663.2																			0				NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(118-120)cCa>cTa		olfactory receptor, family 4, subfamily M, member 2							404.0	355.0	372.0					15																	22368694		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368694C>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.119C>T	15.37:g.22368694C>T	ENSP00000329467:p.Pro40Leu					RP11-69H14.6_ENST00000558896.1_RNA	p.P40L	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	217	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	40					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.119C>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	0.263	-0.998405	0.02145	.	.	ENSG00000182974	ENST00000332663	T	0.01963	4.53	2.5	2.5	0.30297	.	0.000000	0.46758	D	0.000270	T	0.00875	0.0029	N	0.00034	-2.565	0.22835	N	0.998677	D	0.89917	1.0	D	0.97110	1.0	T	0.55535	-0.8126	10	0.02654	T	1	-7.2821	5.3487	0.16024	0.0:0.8342:0.0:0.1658	.	40	Q8NGB6	OR4M2_HUMAN	L	40	ENSP00000329467:P40L	ENSP00000329467:P40L	P	+	2	0	OR4M2	19870058	0.000000	0.05858	0.977000	0.42913	0.465000	0.32709	0.515000	0.22801	1.422000	0.47177	0.448000	0.29417	CCA		0.418	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			122	850	0	0	0	1	0	122	850				
RNF144A	9781	broad.mit.edu	37	2	7164499	7164499	+	Splice_Site	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:7164499G>A	ENST00000320892.6	+	7	951		c.e7-1		RNF144A_ENST00000467276.1_Splice_Site	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A						protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TTCTCCCACAGTGCTGCTTTC	0.572																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.e7-1		ring finger protein 144A							74.0	69.0	71.0					2																	7164499		2203	4300	6503	SO:0001630	splice_region_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7164499G>A	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.510-1G>A	2.37:g.7164499G>A						RNF144A_ENST00000467276.1_Splice_Site		NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	7	951	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)						D6W4Y6|Q585H5	Splice_Site	SNP	ENST00000320892.6	37		CCDS1657.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094012	0.36952	.	.	ENSG00000151692	ENST00000320892;ENST00000427092;ENST00000432850	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4186	0.60982	0.0714:0.0:0.9286:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF144A	7081950	1.000000	0.71417	0.695000	0.30226	0.066000	0.16364	9.358000	0.97109	2.785000	0.95823	0.655000	0.94253	.		0.572	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746	Intron	50	17	0	0	0	1	0	50	17				
ZNF71	58491	broad.mit.edu	37	19	57132924	57132924	+	Missense_Mutation	SNP	C	C	T	rs372176440		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:57132924C>T	ENST00000328070.6	+	3	503	c.269C>T	c.(268-270)cCa>cTa	p.P90L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	90					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTCCTGGTCCCACCACGGCTG	0.587																																						ENST00000328070.6																			0				endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26						c.(268-270)cCa>cTa		zinc finger protein 71							56.0	53.0	54.0					19																	57132924		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132924C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.269C>T	19.37:g.57132924C>T	ENSP00000328245:p.Pro90Leu						p.P90L	NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	503	+			90					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.269C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	9.146	1.015008	0.19355	.	.	ENSG00000197951	ENST00000328070	T	0.07021	3.23	3.01	-2.08	0.07254	.	.	.	.	.	T	0.03348	0.0097	N	0.10664	0.02	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42413	-0.9453	9	0.87932	D	0	.	0.5663	0.00687	0.1699:0.3081:0.1866:0.3354	.	90	Q9NQZ8	ZNF71_HUMAN	L	90	ENSP00000328245:P90L	ENSP00000328245:P90L	P	+	2	0	ZNF71	61824736	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.275000	0.09219	-0.314000	0.08810	CCA		0.587	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		13	41	0	0	0	1	0	13	41				
TXNDC2	84203	broad.mit.edu	37	18	9887577	9887577	+	Silent	SNP	C	C	T	rs371765106		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:9887577C>T	ENST00000306084.6	+	2	1300	c.1101C>T	c.(1099-1101)atC>atT	p.I367I	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Silent_p.I300I	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	367	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGAAGCCATCCAGCCCAAGG	0.567																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1099-1101)atC>atT		thioredoxin domain containing 2 (spermatozoa)		C	,	1,4405	2.1+/-5.4	0,1,2202	143.0	133.0	137.0		1101,900	1.2	0.0	18		137	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TXNDC2	NM_001098529.1,NM_032243.5	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	367/554,300/487	9887577	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887577C>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1101C>T	18.37:g.9887577C>T						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.I300I	p.I367I	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1300	+			367			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1101C>T	CCDS42414.1																																																																																				0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			143	134	0	0	0	1	0	143	134				
POTEC	388468	broad.mit.edu	37	18	14542810	14542810	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:14542810G>T	ENST00000358970.5	-	1	335	c.336C>A	c.(334-336)agC>agA	p.S112R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	112										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCTTGCCGCTCCCCCTGC	0.592																																						ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(334-336)agC>agA		POTE ankyrin domain family, member C							32.0	42.0	39.0					18																	14542810		692	1590	2282	SO:0001583	missense	388468							g.chr18:14542810G>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.336C>A	18.37:g.14542810G>T	ENSP00000351856:p.Ser112Arg					POTEC_ENST00000389891.4_5'UTR	p.S112R	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	335	-			112						Missense_Mutation	SNP	ENST00000358970.5	37	c.336C>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	1.942	-0.443377	0.04604	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.31247	1.5	0.15	-0.299	0.12808	.	.	.	.	.	T	0.19127	0.0459	L	0.42245	1.32	0.09310	N	1	P	0.41929	0.765	B	0.37047	0.24	T	0.10917	-1.0609	8	0.33940	T	0.23	.	.	.	.	.	112	B2RU33	POTEC_HUMAN	R	112	ENSP00000351856:S112R	ENSP00000351856:S112R	S	-	3	2	POTEC	14532810	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.226000	0.09139	-1.047000	0.03242	-1.042000	0.02369	AGC		0.592	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		124	386	1	0	2.20786e-56	1	3.31633e-56	124	386				
TRBV7-6	28592	broad.mit.edu	37	7	142139730	142139730	+	RNA	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:142139730A>G	ENST00000390374.3	-	0	85									T cell receptor beta variable 7-6																		ACCTGTCCCTAGGAAACCCAG	0.527																																						ENST00000390374.3																			0																				122.0	120.0	120.0					7																	142139730		1941	4150	6091			28592							g.chr7:142139730A>G	L36092		7q34	2012-02-07			ENSG00000211727	ENSG00000211727		"""T cell receptors / TRB locus"""	12240	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV76, TCRBV6S3A1N1T, TCRBV7S6			OTTHUMG00000158882		7.37:g.142139730A>G														0	85	-									RNA	SNP	ENST00000390374.3	37																																																																																						0.527	TRBV7-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352490.2	NG_001333		34	57	0	0	0	1	0	34	57				
ADSS	159	broad.mit.edu	37	1	244587320	244587320	+	Silent	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:244587320G>C	ENST00000366535.3	-	6	832	c.516C>G	c.(514-516)tcC>tcG	p.S172S	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			GAGCAGCTTTGGACGAATAAA	0.418																																						ENST00000366535.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(514-516)tcC>tcG		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						70.0	66.0	68.0					1																	244587320		2203	4300	6503	SO:0001819	synonymous_variant	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244587320G>C	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.516C>G	1.37:g.244587320G>C						ADSS_ENST00000462358.1_5'UTR	p.S172S	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		6	832	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	172						Silent	SNP	ENST00000366535.3	37	c.516C>G	CCDS1624.1																																																																																				0.418	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		13	41	0	0	0	1	0	13	41				
PAK6	56924	broad.mit.edu	37	15	40565639	40565639	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:40565639A>G	ENST00000542403.2	+	6	1694	c.1583A>G	c.(1582-1584)aAg>aGg	p.K528R	PAK6_ENST00000560346.1_Missense_Mutation_p.K528R|PAK6_ENST00000441369.1_Missense_Mutation_p.K528R|PAK6_ENST00000453867.1_Missense_Mutation_p.K528R|PAK6_ENST00000455577.2_Missense_Mutation_p.K528R|PAK6_ENST00000260404.4_Missense_Mutation_p.K528R|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	528	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CGGGACATCAAGAGTGACTCC	0.607																																						ENST00000455577.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24						c.(1582-1584)aAg>aGg		p21 protein (Cdc42/Rac)-activated kinase 6							105.0	86.0	92.0					15																	40565639		2203	4300	6503	SO:0001583	missense	56924						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40565639A>G	AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1583A>G	15.37:g.40565639A>G	ENSP00000439597:p.Lys528Arg					RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.K528R|PAK6_ENST00000453867.1_Missense_Mutation_p.K528R|PAK6_ENST00000542403.2_Missense_Mutation_p.K528R|PAK6_ENST00000260404.4_Missense_Mutation_p.K528R|PAK6_ENST00000441369.1_Missense_Mutation_p.K528R	p.K528R	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)	8	2495	+		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)	528			Protein kinase.		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	ENST00000542403.2	37	c.1583A>G	CCDS10054.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.787735	0.90367	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047962	0.85682	D	0.000000	D	0.95265	0.8464	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.991	D	0.95916	0.8927	10	0.87932	D	0	.	14.5758	0.68246	1.0:0.0:0.0:0.0	.	528;528	Q9NQU5;G5E9R2	PAK6_HUMAN;.	R	528	ENSP00000406873:K528R;ENSP00000401153:K528R;ENSP00000409465:K528R;ENSP00000260404:K528R;ENSP00000439597:K528R	ENSP00000260404:K528R	K	+	2	0	PAK6	38352931	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.261000	0.95576	1.838000	0.53458	0.460000	0.39030	AAG		0.607	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000418355.1			18	40	0	0	0	1	0	18	40				
ARHGAP17	55114	broad.mit.edu	37	16	24942235	24942235	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:24942235C>T	ENST00000289968.6	-	19	2454	c.2385G>A	c.(2383-2385)ccG>ccA	p.P795P	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.P717P	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	795	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTCTCGGTCTCGGTAAGGTTC	0.622																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2383-2385)ccG>ccA		Rho GTPase activating protein 17							87.0	96.0	93.0					16																	24942235		2197	4300	6497	SO:0001819	synonymous_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942235C>T	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2385G>A	16.37:g.24942235C>T						ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Silent_p.P717P	p.P795P	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2454	-			795			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Silent	SNP	ENST00000289968.6	37	c.2385G>A	CCDS32409.1																																																																																				0.622	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		4	181	0	0	0	1	0	4	181				
OR2F2	135948	broad.mit.edu	37	7	143632975	143632975	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:143632975C>A	ENST00000408955.2	+	1	717	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GTTCTGTTGTCCTACATCCGG	0.527																																						ENST00000408955.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(649-651)tCc>tAc		olfactory receptor, family 2, subfamily F, member 2							198.0	176.0	183.0					7																	143632975		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632975C>A		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.650C>A	7.37:g.143632975C>A	ENSP00000386222:p.Ser217Tyr						p.S217Y	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	717	+	Melanoma(164;0.0903)		217					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.650C>A	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.564689	0.45694	.	.	ENSG00000221910	ENST00000408955	T	0.46063	0.88	3.49	3.49	0.39957	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000093	T	0.73305	0.3570	H	0.96239	3.79	0.36100	D	0.844076	D	0.89917	1.0	D	0.91635	0.999	D	0.85557	0.1225	10	0.87932	D	0	-33.1149	12.8566	0.57888	0.0:1.0:0.0:0.0	.	217	O95006	OR2F2_HUMAN	Y	217	ENSP00000386222:S217Y	ENSP00000386222:S217Y	S	+	2	0	OR2F2	143263908	1.000000	0.71417	0.997000	0.53966	0.512000	0.34134	5.732000	0.68563	1.937000	0.56155	0.491000	0.48974	TCC		0.527	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			23	52	1	0	3.6726e-16	1	4.75355e-16	23	52				
LRIT2	340745	broad.mit.edu	37	10	85984195	85984195	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:85984195G>T	ENST00000372113.4	-	2	791	c.786C>A	c.(784-786)atC>atA	p.I262I	LRIT2_ENST00000538192.1_Silent_p.I262I	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	262	Ig-like.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCCGGATGGTGATATTGGCAC	0.532																																						ENST00000372113.4																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						c.(784-786)atC>atA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 2							111.0	98.0	102.0					10																	85984195		2203	4300	6503	SO:0001819	synonymous_variant	340745					integral to membrane		g.chr10:85984195G>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.786C>A	10.37:g.85984195G>T						LRIT2_ENST00000538192.1_Silent_p.I262I	p.I262I	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN			2	791	-			262			Ig-like.		B7ZME6	Silent	SNP	ENST00000372113.4	37	c.786C>A	CCDS31234.1																																																																																				0.532	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		34	33	1	0	1.45844e-13	1	1.79841e-13	34	33				
ENTPD1	953	broad.mit.edu	37	10	97625949	97625949	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:97625949G>C	ENST00000371205.4	+	10	1625	c.1342G>C	c.(1342-1344)Gcc>Ccc	p.A448P	ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.A460P|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1_ENST00000371203.5_Missense_Mutation_p.A310P|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000453258.2_Missense_Mutation_p.A455P|ENTPD1_ENST00000543964.1_Missense_Mutation_p.A340P|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.A310P			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	448					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGGCAGCGACGCCGGCTGGAC	0.502																																						ENST00000371203.5																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(928-930)Gcc>Ccc		ectonucleoside triphosphate diphosphohydrolase 1							183.0	137.0	153.0					10																	97625949		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97625949G>C	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1342G>C	10.37:g.97625949G>C	ENSP00000360248:p.Ala448Pro					ENTPD1_ENST00000539125.1_Missense_Mutation_p.A310P|ENTPD1_ENST00000453258.2_Missense_Mutation_p.A455P|ENTPD1_ENST00000371205.4_Missense_Mutation_p.A448P|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.A460P|ENTPD1-AS1_ENST00000451364.1_RNA|RP11-248J23.7_ENST00000491114.1_Intron|ENTPD1_ENST00000543964.1_Missense_Mutation_p.A340P	p.A310P	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	9	1515	+		Colorectal(252;0.0821)	448					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.928G>C	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	G	37	6.285254	0.97444	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57	6.01	6.01	0.97437	.	0.094707	0.64402	D	0.000001	T	0.28732	0.0712	L	0.29908	0.895	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.373;1.0	D;D;B;D	0.85130	0.997;0.995;0.123;0.997	T	0.00679	-1.1613	10	0.87932	D	0	-13.1917	18.0121	0.89227	0.0:0.0:1.0:0.0	.	460;460;455;448	B4DWB9;G3XAF6;P49961-2;P49961	.;.;.;ENTP1_HUMAN	P	455;460;340;310;310;448	ENSP00000390955:A455P;ENSP00000360250:A460P;ENSP00000442968:A340P;ENSP00000440027:A310P;ENSP00000360246:A310P;ENSP00000360248:A448P	ENSP00000360246:A310P	A	+	1	0	ENTPD1	97615939	1.000000	0.71417	0.050000	0.19076	0.973000	0.67179	5.977000	0.70492	2.860000	0.98153	0.655000	0.94253	GCC		0.502	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		9	4	0	0	0	1	0	9	4				
DCHS2	54798	broad.mit.edu	37	4	155278469	155278469	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:155278469A>C	ENST00000357232.4	-	6	701	c.702T>G	c.(700-702)taT>taG	p.Y234*	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	234	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)		cctctggactatagagtccta	0.423																																						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.(700-702)taT>taG		dachsous cadherin-related 2							71.0	75.0	73.0					4																	155278469		2203	4300	6503	SO:0001587	stop_gained	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155278469A>C	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.702T>G	4.37:g.155278469A>C	ENSP00000349768:p.Tyr234*					DCHS2_ENST00000339452.1_Intron	p.Y234*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	6	701	-	all_hematologic(180;0.208)	Renal(120;0.0854)	234			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Nonsense_Mutation	SNP	ENST00000357232.4	37	c.702T>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.352658	0.24512	.	.	ENSG00000197410	ENST00000357232	.	.	.	0.149	-0.298	0.12814	.	11.598300	0.00738	U	0.000988	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	.	.	.	.	.	.	.	X	234	.	ENSP00000349768:Y234X	Y	-	3	2	DCHS2	155497919	0.035000	0.19736	0.014000	0.15608	0.030000	0.12068	-1.723000	0.01866	-1.120000	0.02953	-1.120000	0.02017	TAT		0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		19	29	0	0	0	1	0	19	29				
OR52N4	390072	broad.mit.edu	37	11	5776890	5776890	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:5776890T>G	ENST00000317254.3	+	1	968	c.920T>G	c.(919-921)aTa>aGa	p.I307R	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GACTGTGTCATAAGGATCCTT	0.418																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(919-921)aTa>aGa		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							78.0	71.0	73.0					11																	5776890		1889	4135	6024	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776890T>G	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.920T>G	11.37:g.5776890T>G	ENSP00000323224:p.Ile307Arg					TRIM5_ENST00000380027.1_Intron	p.I307R	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	968	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	307					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.920T>G	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	T	4.742	0.137890	0.09032	.	.	ENSG00000181074	ENST00000317254	T	0.34667	1.35	5.65	3.31	0.37934	.	1.134080	0.06797	N	0.788054	T	0.36082	0.0954	N	0.21282	0.65	0.09310	N	0.999991	B	0.28378	0.209	B	0.43386	0.418	T	0.50866	-0.8777	10	0.56958	D	0.05	.	6.0487	0.19773	0.1433:0.0776:0.0:0.779	.	307	Q8NGI2	O52N4_HUMAN	R	307	ENSP00000323224:I307R	ENSP00000323224:I307R	I	+	2	0	OR52N4	5733466	0.000000	0.05858	0.131000	0.22000	0.059000	0.15707	0.200000	0.17257	0.416000	0.25844	-0.282000	0.10007	ATA		0.418	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		40	32	0	0	0	1	0	40	32				
PEX5	5830	broad.mit.edu	37	12	7361164	7361164	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:7361164G>A	ENST00000455147.2	+	14	1873	c.1293G>A	c.(1291-1293)cgG>cgA	p.R431R	PEX5_ENST00000434354.2_Silent_p.R446R|PEX5_ENST00000266563.5_Silent_p.R394R|PEX5_ENST00000412720.2_Silent_p.R452R|PEX5_ENST00000266564.3_Silent_p.R423R|PEX5_ENST00000420616.2_Silent_p.R431R	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	431					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						ACTGGCTGCGGTACACACCAG	0.592																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(1180-1182)cgG>cgA		peroxisomal biogenesis factor 5							63.0	57.0	59.0					12																	7361164		2203	4300	6503	SO:0001819	synonymous_variant	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7361164G>A	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1293G>A	12.37:g.7361164G>A						PEX5_ENST00000434354.2_Silent_p.R446R|PEX5_ENST00000455147.2_Silent_p.R431R|PEX5_ENST00000420616.2_Silent_p.R431R|PEX5_ENST00000412720.2_Silent_p.R452R|PEX5_ENST00000266564.3_Silent_p.R423R	p.R394R	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			12	1365	+			431					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	c.1182G>A	CCDS44823.1																																																																																				0.592	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		48	78	0	0	0	1	0	48	78				
NSD1	64324	broad.mit.edu	37	5	176675185	176675185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:176675185G>T	ENST00000439151.2	+	11	4546	c.4501G>T	c.(4501-4503)Gaa>Taa	p.E1501*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1398*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1232*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1232*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1501					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTGCAAGGGAGAACTAATGCC	0.483			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4501-4503)Gaa>Taa		nuclear receptor binding SET domain protein 1							50.0	50.0	50.0					5																	176675185		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176675185G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4501G>T	5.37:g.176675185G>T	ENSP00000395929:p.Glu1501*	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Nonsense_Mutation_p.E1232*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.E1398*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E1232*	p.E1501*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	11	4546	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1501					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.4501G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	43	9.928488	0.99298	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.22	5.22	0.72569	.	0.000000	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.7766	0.91913	0.0:0.0:1.0:0.0	.	.	.	.	X	1232;1501;1232;1398	.	ENSP00000343209:E1232X	E	+	1	0	NSD1	176607791	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.271000	0.72569	2.425000	0.82216	0.655000	0.94253	GAA		0.483	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		24	15	1	0	2.44723e-14	1	3.06955e-14	24	15				
MYO7A	4647	broad.mit.edu	37	11	76890166	76890166	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:76890166C>G	ENST00000409709.3	+	20	2630	c.2358C>G	c.(2356-2358)aaC>aaG	p.N786K	MYO7A_ENST00000409893.1_Missense_Mutation_p.N786K|MYO7A_ENST00000409619.2_Missense_Mutation_p.N775K|MYO7A_ENST00000458637.2_Missense_Mutation_p.N786K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	786	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTAGGAAGAACTACGGGCTGG	0.597																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2356-2358)aaC>aaG		myosin VIIA							34.0	40.0	38.0					11																	76890166		2060	4193	6253	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76890166C>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.2358C>G	11.37:g.76890166C>G	ENSP00000386331:p.Asn786Lys					MYO7A_ENST00000458637.2_Missense_Mutation_p.N786K|MYO7A_ENST00000409893.1_Missense_Mutation_p.N786K|MYO7A_ENST00000409619.2_Missense_Mutation_p.N775K	p.N786K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			20	2630	+			786			IQ 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.2358C>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	C	0.729	-0.780726	0.02929	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.87	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	N	0.20574	0.59	0.54753	D	0.999981	B;B;B	0.20368	0.016;0.016;0.044	B;B;B	0.21360	0.034;0.013;0.026	T	0.09509	-1.0671	10	0.21540	T	0.41	.	7.3928	0.26919	0.1683:0.7477:0.0:0.084	.	786;786;786	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	786;786;786;775;785;785;662;785	ENSP00000386331:N786K;ENSP00000386689:N786K;ENSP00000392185:N786K;ENSP00000386635:N775K	ENSP00000345075:N662K	N	+	3	2	MYO7A	76567814	1.000000	0.71417	0.992000	0.48379	0.418000	0.31294	1.320000	0.33666	1.049000	0.40321	0.289000	0.19496	AAC		0.597	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		6	9	0	0	0	1	0	6	9				
ABL1	25	broad.mit.edu	37	9	133760654	133760654	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:133760654G>C	ENST00000318560.5	+	11	3358	c.2977G>C	c.(2977-2979)Gca>Cca	p.A993P		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	993	F-actin-binding.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CTCGGCCCTGGCAGGGGACCA	0.672			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																	ENST00000318560.5				Dom	yes		9	9q34.1	25	"""T, Mis"""	v-abl Abelson murine leukemia viral oncogene homolog 1			L	"""BCR, ETV6, NUP214"""		"""CML, ALL, T-ALL"""		0				breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195						c.(2977-2979)Gca>Cca		c-abl oncogene 1, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)						60.0	71.0	67.0					9																	133760654		2203	4299	6502	SO:0001583	missense	25				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr9:133760654G>C	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2977G>C	9.37:g.133760654G>C	ENSP00000323315:p.Ala993Pro						p.A993P	NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	11	3358	+		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)	993			F-actin-binding.|Pro-rich.		A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	c.2977G>C	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278742	0.23307	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.13657	2.57;2.57	5.26	4.36	0.52297	F-actin binding (1);	0.553031	0.17430	N	0.174489	T	0.08626	0.0214	N	0.16478	0.41	0.31223	N	0.697232	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.16453	-1.0402	10	0.18276	T	0.48	.	10.9226	0.47174	0.0863:0.0:0.9137:0.0	.	993;1030	P00519;Q59FK4	ABL1_HUMAN;.	P	808;1012;993	ENSP00000361423:A1012P;ENSP00000323315:A993P	ENSP00000323315:A993P	A	+	1	0	ABL1	132750475	0.992000	0.36948	0.889000	0.34880	0.408000	0.30992	1.389000	0.34453	1.218000	0.43458	0.555000	0.69702	GCA		0.672	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313		45	36	0	0	0	1	0	45	36				
ADAMTS3	9508	broad.mit.edu	37	4	73164080	73164080	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:73164080T>A	ENST00000286657.4	-	18	2540	c.2504A>T	c.(2503-2505)aAc>aTc	p.N835I		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	835	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTGTTGCTGTTGATTGTAGG	0.403																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2503-2505)aAc>aTc		ADAM metallopeptidase with thrombospondin type 1 motif, 3							172.0	150.0	158.0					4																	73164080		2203	4299	6502	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73164080T>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2504A>T	4.37:g.73164080T>A	ENSP00000286657:p.Asn835Ile						p.N835I	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		18	2540	-			835			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2504A>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.332967	0.41297	.	.	ENSG00000156140	ENST00000286657	T	0.62232	0.04	5.74	0.551	0.17225	.	0.054599	0.64402	D	0.000001	T	0.51058	0.1652	L	0.38838	1.175	0.39955	D	0.97459	B	0.22800	0.075	B	0.33121	0.158	T	0.40478	-0.9561	10	0.41790	T	0.15	.	9.3237	0.37980	0.0:0.3455:0.0:0.6545	.	835	O15072	ATS3_HUMAN	I	835	ENSP00000286657:N835I	ENSP00000286657:N835I	N	-	2	0	ADAMTS3	73382944	0.998000	0.40836	0.997000	0.53966	0.871000	0.50021	0.419000	0.21247	-0.100000	0.12241	0.533000	0.62120	AAC		0.403	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			53	86	0	0	0	1	0	53	86				
VCAN	1462	broad.mit.edu	37	5	82834903	82834903	+	Silent	SNP	C	C	T	rs377521844		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:82834903C>T	ENST00000265077.3	+	8	6646	c.6081C>T	c.(6079-6081)ccC>ccT	p.P2027P	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.P1040P|VCAN-AS1_ENST00000512090.1_RNA|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2027	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAGTGCTTCCCAGTGCTGTGC	0.488																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(6079-6081)ccC>ccT		versican							73.0	76.0	75.0					5																	82834903		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834903C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6081C>T	5.37:g.82834903C>T						VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.P1040P|VCAN_ENST00000342785.4_Intron	p.P2027P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6646	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2027			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.6081C>T	CCDS4060.1																																																																																				0.488	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		31	19	0	0	0	1	0	31	19				
PON3	5446	broad.mit.edu	37	7	94993271	94993271	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:94993271C>G	ENST00000265627.5	-	6	609	c.599G>C	c.(598-600)cGc>cCc	p.R200P	PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Missense_Mutation_p.R200P|PON3_ENST00000427422.1_Missense_Mutation_p.R200P	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	200					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	ATAAGTCCAGCGAAGATCCAA	0.443																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(598-600)cGc>cCc		paraoxonase 3							178.0	179.0	179.0					7																	94993271		2203	4300	6503	SO:0001583	missense	5446							g.chr7:94993271C>G	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.599G>C	7.37:g.94993271C>G	ENSP00000265627:p.Arg200Pro					PON3_ENST00000427422.1_Missense_Mutation_p.R200P|PON1_ENST00000542556.1_Intron	p.R200P	NM_000940.2	NP_000931.1			STAD - Stomach adenocarcinoma(171;0.0151)		6	609	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.599G>C	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	C	3.672	-0.067352	0.07273	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.42513	0.97;0.97	5.27	-10.5	0.00291	Six-bladed beta-propeller, TolB-like (1);	1.275840	0.04752	N	0.424628	T	0.15003	0.0362	N	0.03050	-0.425	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.002;0.007	T	0.20974	-1.0259	10	0.27785	T	0.31	2.6831	7.1382	0.25541	0.0803:0.5408:0.243:0.136	.	248;200	B4E2I0;Q15166	.;PON3_HUMAN	P	200	ENSP00000265627:R200P;ENSP00000413276:R200P	ENSP00000265627:R200P	R	-	2	0	PON3	94831207	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.631000	0.05496	-2.788000	0.00357	-0.175000	0.13238	CGC		0.443	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		56	175	0	0	0	1	0	56	175				
ZNF700	90592	broad.mit.edu	37	19	12060409	12060409	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:12060409C>G	ENST00000254321.5	+	4	1713	c.1570C>G	c.(1570-1572)Caa>Gaa	p.Q524E	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.Q506E|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CAAGTCATTTCAAACACATGA	0.373																																						ENST00000482090.1																		ZNF700/MAST1_ENST00000251472(2)	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						c.(1516-1518)Caa>Gaa		zinc finger protein 700							62.0	64.0	63.0					19																	12060409		2203	4300	6503	SO:0001583	missense	90592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12060409C>G	AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1570C>G	19.37:g.12060409C>G	ENSP00000254321:p.Gln524Glu					CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Q524E|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron	p.Q506E			Q9H0M5	ZN700_HUMAN			3	1934	+			524					B9EGU4	Missense_Mutation	SNP	ENST00000254321.5	37	c.1516C>G	CCDS32915.1	.	.	.	.	.	.	.	.	.	.	c	3.183	-0.167576	0.06461	.	.	ENSG00000196757	ENST00000254321	T	0.11821	2.74	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	N	0.20357	0.565	0.09310	N	1	P	0.35011	0.48	B	0.37304	0.246	T	0.37979	-0.9682	9	0.15952	T	0.53	.	4.6883	0.12769	0.5772:0.4228:0.0:0.0	.	524	Q9H0M5	ZN700_HUMAN	E	524	ENSP00000254321:Q524E	ENSP00000254321:Q524E	Q	+	1	0	ZNF700	11921409	0.000000	0.05858	0.022000	0.16811	0.051000	0.14879	-1.758000	0.01810	0.623000	0.30267	0.305000	0.20034	CAA		0.373	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344126.2	NM_144566		33	68	0	0	0	1	0	33	68				
SLITRK3	22865	broad.mit.edu	37	3	164906825	164906825	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:164906825C>T	ENST00000475390.1	-	2	2237	c.1794G>A	c.(1792-1794)acG>acA	p.T598T	SLITRK3_ENST00000241274.3_Silent_p.T598T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	598	LRRCT 2.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CATCACGGTGCGTGAGGTTCT	0.552										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(1792-1794)acG>acA		SLIT and NTRK-like family, member 3							80.0	72.0	75.0					3																	164906825		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164906825C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1794G>A	3.37:g.164906825C>T		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.T598T	p.T598T			O94933	SLIK3_HUMAN			2	2237	-			598			LRRCT 2.		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1794G>A	CCDS3197.1																																																																																				0.552	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		48	42	0	0	0	1	0	48	42				
UGT2A1	10941	broad.mit.edu	37	4	70460339	70460339	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:70460339G>T	ENST00000503640.1	-	5	1215	c.1160C>A	c.(1159-1161)cCt>cAt	p.P387H	UGT2A1_ENST00000514019.1_Missense_Mutation_p.P553H|UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.P396H|UGT2A1_ENST00000512704.1_Missense_Mutation_p.P343H|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P387H	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	387					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCCCACCATAGGGACTCCGTG	0.448																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(1159-1161)cCt>cAt		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							99.0	86.0	91.0					4																	70460339		2203	4300	6503	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70460339G>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1160C>A	4.37:g.70460339G>T	ENSP00000424478:p.Pro387His					UGT2A1_ENST00000512704.1_Missense_Mutation_p.P343H|UGT2A2_ENST00000457664.2_Missense_Mutation_p.P396H|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P553H|UGT2A1_ENST00000286604.4_Missense_Mutation_p.P387H	p.P387H	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			5	1215	-			387					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.1160C>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654743	0.67472	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	D;D;D;D;T	0.90900	-2.75;-2.75;-2.75;-2.75;-1.45	4.53	3.68	0.42216	.	0.168206	0.53938	D	0.000056	D	0.96796	0.8954	H	0.97465	4.01	.	.	.	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;0.999;1.0;1.0;1.0	D	0.98802	1.0740	9	0.87932	D	0	.	12.7796	0.57469	0.0:0.1661:0.8339:0.0	.	553;553;343;396;387	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	H	396;387;343;553;387	ENSP00000387888:P396H;ENSP00000424478:P387H;ENSP00000421432:P343H;ENSP00000425497:P553H;ENSP00000286604:P387H	ENSP00000286604:P387H	P	-	2	0	UGT2A1	70494928	1.000000	0.71417	0.855000	0.33649	0.816000	0.46133	7.449000	0.80643	1.258000	0.44101	0.644000	0.83932	CCT		0.448	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		30	54	1	0	2.12542e-12	1	2.58162e-12	30	54				
FLG2	388698	broad.mit.edu	37	1	152327245	152327245	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:152327245G>C	ENST00000388718.5	-	3	3089	c.3017C>G	c.(3016-3018)tCa>tGa	p.S1006*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1006	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGACTTGAGCCAGAACC	0.483																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3016-3018)tCa>tGa		filaggrin family member 2							301.0	296.0	297.0					1																	152327245		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152327245G>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3017C>G	1.37:g.152327245G>C	ENSP00000373370:p.Ser1006*					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S1006*	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3089	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1006			Ser-rich.		Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.3017C>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	37	6.471057	0.97594	.	.	ENSG00000143520	ENST00000388718	.	.	.	4.06	3.08	0.35506	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-3.4356	9.6461	0.39868	0.0:0.212:0.788:0.0	.	.	.	.	X	1006	.	ENSP00000373370:S1006X	S	-	2	0	FLG2	150593869	0.044000	0.20184	0.019000	0.16419	0.003000	0.03518	-0.087000	0.11215	2.085000	0.62840	0.563000	0.77884	TCA		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		203	259	0	0	0	1	0	203	259				
FAT4	79633	broad.mit.edu	37	4	126336742	126336742	+	Silent	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:126336742A>T	ENST00000394329.3	+	5	6637	c.6624A>T	c.(6622-6624)acA>acT	p.T2208T	FAT4_ENST00000335110.5_Silent_p.T506T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2208	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCTGTCACAGGTGCCATCA	0.458																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6622-6624)acA>acT		FAT atypical cadherin 4							142.0	132.0	136.0					4																	126336742		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336742A>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6624A>T	4.37:g.126336742A>T						FAT4_ENST00000335110.5_Silent_p.T506T	p.T2208T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6637	+			2208			Cadherin 21.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6624A>T	CCDS3732.3																																																																																				0.458	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		46	116	0	0	0	1	0	46	116				
VAV3	10451	broad.mit.edu	37	1	108417604	108417604	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:108417604C>A	ENST00000370056.4	-	2	514	c.240G>T	c.(238-240)acG>acT	p.T80T	VAV3_ENST00000527011.1_Silent_p.T80T|VAV3_ENST00000371846.4_Silent_p.T15T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	80	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CACAACAGGCCGTGAGAAATG	0.368																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(238-240)acG>acT		vav 3 guanine nucleotide exchange factor							84.0	80.0	81.0					1																	108417604		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108417604C>A	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.240G>T	1.37:g.108417604C>A						VAV3_ENST00000371846.4_Silent_p.T15T|VAV3_ENST00000527011.1_Silent_p.T80T	p.T80T	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	2	514	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	80			CH.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.240G>T	CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	9.208	1.030179	0.19512	.	.	ENSG00000134215	ENST00000490388	.	.	.	6.08	-3.92	0.04155	.	.	.	.	.	T	0.20373	0.0490	.	.	.	0.35869	D	0.828118	.	.	.	.	.	.	T	0.26950	-1.0088	4	.	.	.	.	2.4472	0.04509	0.1001:0.2708:0.206:0.4231	.	.	.	.	L	75	.	.	R	-	2	0	VAV3	108219127	0.000000	0.05858	0.922000	0.36590	0.994000	0.84299	-4.752000	0.00190	-0.438000	0.07232	-0.140000	0.14226	CGG		0.368	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		11	56	1	0	3.86212e-05	1	4.13394e-05	11	56				
DNMBP	23268	broad.mit.edu	37	10	101715869	101715869	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:101715869T>A	ENST00000324109.4	-	4	1453	c.1362A>T	c.(1360-1362)agA>agT	p.R454S	DNMBP_ENST00000342239.3_Missense_Mutation_p.R454S|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	454					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGGCATAGTCTCTAGTCCTTG	0.493																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(1360-1362)agA>agT		dynamin binding protein							94.0	103.0	100.0					10																	101715869		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715869T>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1362A>T	10.37:g.101715869T>A	ENSP00000315659:p.Arg454Ser					DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.R454S	p.R454S			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1453	-		Colorectal(252;0.234)	454					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.1362A>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	T	9.199	1.028089	0.19512	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.14022	2.59;2.54	5.77	0.513	0.17000	.	0.227351	0.30979	N	0.008482	T	0.07007	0.0178	L	0.29908	0.895	0.09310	N	0.99999	B	0.17465	0.022	B	0.14023	0.01	T	0.40289	-0.9571	10	0.10636	T	0.68	-5.2819	4.9484	0.14002	0.0:0.3007:0.1551:0.5442	.	454	Q6XZF7	DNMBP_HUMAN	S	454	ENSP00000344914:R454S;ENSP00000315659:R454S	ENSP00000315659:R454S	R	-	3	2	DNMBP	101705859	0.002000	0.14202	0.519000	0.27824	0.193000	0.23685	0.151000	0.16283	0.094000	0.17404	0.459000	0.35465	AGA		0.493	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		77	52	0	0	0	1	0	77	52				
SLC39A14	23516	broad.mit.edu	37	8	22273316	22273316	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:22273316C>T	ENST00000381237.1	+	6	904	c.785C>T	c.(784-786)tCg>tTg	p.S262L	SLC39A14_ENST00000289952.5_Missense_Mutation_p.S262L|SLC39A14_ENST00000359741.5_Missense_Mutation_p.S262L|SLC39A14_ENST00000240095.6_Missense_Mutation_p.S262L	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	262					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GCCTCTGAGTCGCTTCCCTCC	0.552																																						ENST00000381237.1																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12						c.(784-786)tCg>tTg		solute carrier family 39 (zinc transporter), member 14							75.0	62.0	66.0					8																	22273316		2203	4300	6503	SO:0001583	missense	23516					endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	g.chr8:22273316C>T	D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.785C>T	8.37:g.22273316C>T	ENSP00000370635:p.Ser262Leu					SLC39A14_ENST00000240095.6_Missense_Mutation_p.S262L|SLC39A14_ENST00000289952.5_Missense_Mutation_p.S262L|SLC39A14_ENST00000359741.5_Missense_Mutation_p.S262L	p.S262L	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN		Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)	6	904	+			262					A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Missense_Mutation	SNP	ENST00000381237.1	37	c.785C>T	CCDS47823.1	.	.	.	.	.	.	.	.	.	.	C	8.959	0.970197	0.18659	.	.	ENSG00000104635	ENST00000359741;ENST00000240095;ENST00000381237;ENST00000289952;ENST00000517370	T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69	5.67	4.8	0.61643	.	0.510038	0.25055	N	0.033493	T	0.41282	0.1152	L	0.42632	1.34	0.21915	N	0.999478	B;B;B	0.23249	0.082;0.007;0.033	B;B;B	0.26202	0.017;0.052;0.067	T	0.25882	-1.0119	10	0.27082	T	0.32	-4.1037	13.4241	0.61015	0.0:0.9232:0.0:0.0768	.	262;262;262	Q15043-2;Q15043;B6EU88	.;S39AE_HUMAN;.	L	262;262;262;262;85	ENSP00000352779:S262L;ENSP00000240095:S262L;ENSP00000370635:S262L;ENSP00000289952:S262L;ENSP00000427981:S85L	ENSP00000240095:S262L	S	+	2	0	SLC39A14	22329261	0.929000	0.31497	0.091000	0.20842	0.165000	0.22458	1.956000	0.40382	1.409000	0.46915	0.563000	0.77884	TCG		0.552	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215039.2	XM_046677		8	39	0	0	0	1	0	8	39				
NBEAP1	606	broad.mit.edu	37	15	20876489	20876489	+	RNA	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:20876489G>T	ENST00000556948.1	-	0	111							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		AACAAAATATGATCACAAAGC	0.328																																						ENST00000556948.1																			0																																																			606							g.chr15:20876489G>T			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20876489G>T														0	111	-									RNA	SNP	ENST00000556948.1	37																																																																																						0.328	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		20	87	1	0	3.62473e-10	1	4.22018e-10	20	87				
TRAF6	7189	broad.mit.edu	37	11	36520173	36520173	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:36520173C>T	ENST00000526995.1	-	3	560	c.314G>A	c.(313-315)tGt>tAt	p.C105Y	TRAF6_ENST00000529150.1_5'Flank|TRAF6_ENST00000348124.5_Missense_Mutation_p.C105Y	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	105	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GTCAACTGGACATTTGTGACC	0.323																																						ENST00000526995.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27						c.(313-315)tGt>tAt		TNF receptor-associated factor 6, E3 ubiquitin protein ligase							89.0	82.0	85.0					11																	36520173		2202	4298	6500	SO:0001583	missense	7189				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36520173C>T		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.314G>A	11.37:g.36520173C>T	ENSP00000433623:p.Cys105Tyr					TRAF6_ENST00000348124.5_Missense_Mutation_p.C105Y	p.C105Y	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN			3	560	-	all_lung(20;0.211)	all_hematologic(20;0.107)	105			Interaction with TAX1BP1.		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	37	c.314G>A	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575588	0.86645	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	D;D	0.99860	-7.25;-7.25	5.41	5.41	0.78517	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96083	0.9055	10	0.87932	D	0	-14.863	19.5578	0.95358	0.0:1.0:0.0:0.0	.	105	Q9Y4K3	TRAF6_HUMAN	Y	105	ENSP00000433623:C105Y;ENSP00000337853:C105Y	ENSP00000337853:C105Y	C	-	2	0	TRAF6	36476749	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.695000	0.91970	0.563000	0.77884	TGT		0.323	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803		20	16	0	0	0	1	0	20	16				
TTN	7273	broad.mit.edu	37	2	179529260	179529260	+	Intron	SNP	C	C	T	rs370960330		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:179529260C>T	ENST00000591111.1	-	153	34489				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.P12069P|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			TGAGAGCCTCCGGCACTTTGA	0.383																																						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.(36205-36207)ccG>ccA		titin		T	,,,	1,1751		0,1,875	145.0	140.0	141.0		,,,	-5.3	0.0	2		141	0,3982		0,0,1991	no	intron,intron,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,2866	TT,TC,CC		0.0,0.0571,0.0174	,,,	,,,	179529260	1,5733	876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529260C>T	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.34264+5684G>A	2.37:g.179529260C>T						TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	p.P12069P	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)		168	36431	-			10216			Ig-like 80.		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.36207G>A		.	.	.	.	.	.	.	.	.	.	c	2.358	-0.347364	0.05208	5.71E-4	0.0	ENSG00000155657	ENST00000425332	.	.	.	5.2	-5.3	0.02738	.	.	.	.	.	T	0.23806	0.0576	.	.	.	0.28490	N	0.914542	.	.	.	.	.	.	T	0.30090	-0.9990	4	.	.	.	.	3.9921	0.09541	0.2263:0.1712:0.0616:0.5409	.	.	.	.	Q	133	.	.	R	-	2	0	TTN	179237505	0.000000	0.05858	0.024000	0.17045	0.003000	0.03518	-0.665000	0.05286	-1.133000	0.02903	-2.986000	0.00079	CGG		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		75	77	0	0	0	1	0	75	77				
CYP4Z1	199974	broad.mit.edu	37	1	47548131	47548131	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:47548131C>T	ENST00000334194.3	+	4	493	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	164						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCGGATGATGCTGGTAAGAGG	0.473																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(490-492)Ctg>Ttg		cytochrome P450, family 4, subfamily Z, polypeptide 1							81.0	74.0	76.0					1																	47548131		2203	4300	6503	SO:0001819	synonymous_variant	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47548131C>T	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.490C>T	1.37:g.47548131C>T							p.L164L	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			4	493	+			164					Q5VVE4	Silent	SNP	ENST00000334194.3	37	c.490C>T	CCDS545.1																																																																																				0.473	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		38	42	0	0	0	1	0	38	42				
RBFOX1	54715	broad.mit.edu	37	16	7629799	7629799	+	Silent	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:7629799G>C	ENST00000550418.1	+	6	1279	c.291G>C	c.(289-291)ccG>ccC	p.P97P	RBFOX1_ENST00000547338.1_Silent_p.P97P|RBFOX1_ENST00000340209.4_Silent_p.P102P|RBFOX1_ENST00000552089.1_Silent_p.P132P|RBFOX1_ENST00000547372.1_Silent_p.P140P|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000355637.4_Silent_p.P117P|RBFOX1_ENST00000311745.5_Silent_p.P117P|RBFOX1_ENST00000422070.4_Silent_p.P140P|RBFOX1_ENST00000553186.1_Silent_p.P97P|RBFOX1_ENST00000436368.2_Silent_p.P117P	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	97					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ACGCAGCACCGACGGATGGCC	0.522																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(304-306)ccG>ccC		RNA binding protein, fox-1 homolog (C. elegans) 1							131.0	122.0	125.0					16																	7629799		2197	4300	6497	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7629799G>C	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.291G>C	16.37:g.7629799G>C						RBFOX1_ENST00000552089.1_Silent_p.P132P|RBFOX1_ENST00000311745.5_Silent_p.P117P|RBFOX1_ENST00000550418.1_Silent_p.P97P|RBFOX1_ENST00000422070.4_Silent_p.P140P|RBFOX1_ENST00000547338.1_Silent_p.P97P|RBFOX1_ENST00000436368.2_Silent_p.P117P|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000355637.4_Silent_p.P117P|RBFOX1_ENST00000553186.1_Silent_p.P97P|RBFOX1_ENST00000547372.1_Silent_p.P140P	p.P102P			Q9NWB1	RFOX1_HUMAN			3	603	+			97					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.306G>C	CCDS55983.1																																																																																				0.522	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		36	82	0	0	0	1	0	36	82				
TXNRD2	10587	broad.mit.edu	37	22	19868178	19868178	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:19868178G>A	ENST00000400521.1	-	13	1155	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	TXNRD2_ENST00000542719.1_Silent_p.F353F|TXNRD2_ENST00000400519.1_Silent_p.F382F|TXNRD2_ENST00000400518.1_Silent_p.F353F|TXNRD2_ENST00000535882.1_Silent_p.F382F	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	383					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGGACCCGCCGAAGAGCCGCT	0.627																																						ENST00000535882.1																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30						c.(1144-1146)ttC>ttT		thioredoxin reductase 2							38.0	47.0	44.0					22																	19868178		2067	4211	6278	SO:0001819	synonymous_variant	10587				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity	g.chr22:19868178G>A	AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1149C>T	22.37:g.19868178G>A						TXNRD2_ENST00000542719.1_Silent_p.F353F|TXNRD2_ENST00000400525.1_Silent_p.F360F|TXNRD2_ENST00000400518.1_Silent_p.F353F|TXNRD2_ENST00000400521.1_Silent_p.F383F|TXNRD2_ENST00000400519.1_Silent_p.F382F	p.F382F			Q9NNW7	TRXR2_HUMAN			13	1145	-	Colorectal(54;0.0993)		383					O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Silent	SNP	ENST00000400521.1	37	c.1146C>T	CCDS42981.1																																																																																				0.627	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000314903.3	NM_006440		3	40	0	0	0	1	0	3	40				
PSD3	23362	broad.mit.edu	37	8	18725278	18725278	+	Missense_Mutation	SNP	C	C	T	rs374109905		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:18725278C>T	ENST00000327040.8	-	4	1642	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	PSD3_ENST00000440756.2_Missense_Mutation_p.V514M|PSD3_ENST00000523619.1_Missense_Mutation_p.V449M	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	514					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TAGCCCATCACGATGCCACCA	0.517																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1540-1542)Gtg>Atg		pleckstrin and Sec7 domain containing 3		C	MET/VAL	0,4272		0,0,2136	173.0	172.0	173.0		1540	-0.2	0.2	8		173	1,8485		0,1,4242	no	missense	PSD3	NM_015310.3	21	0,1,6378	TT,TC,CC		0.0118,0.0,0.0078	possibly-damaging	514/1048	18725278	1,12757	2136	4243	6379	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725278C>T	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1540G>A	8.37:g.18725278C>T	ENSP00000324127:p.Val514Met					PSD3_ENST00000523619.1_Missense_Mutation_p.V449M|PSD3_ENST00000327040.8_Missense_Mutation_p.V514M	p.V514M			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1642	-			514					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.1540G>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376876	0.24857	0.0	1.18E-4	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.13901	2.56;2.55;2.55	5.28	-0.208	0.13185	.	1.317620	0.05033	N	0.474851	T	0.09905	0.0243	L	0.29908	0.895	0.22648	N	0.998896	B	0.34313	0.448	B	0.21546	0.035	T	0.35968	-0.9767	10	0.46703	T	0.11	.	9.4065	0.38464	0.0:0.4411:0.0:0.5589	.	514	E9KL50	.	M	514;514;449	ENSP00000324127:V514M;ENSP00000401704:V514M;ENSP00000430640:V449M	ENSP00000324127:V514M	V	-	1	0	PSD3	18769558	0.024000	0.19004	0.169000	0.22859	0.752000	0.42762	-0.595000	0.05727	-0.027000	0.13873	-0.977000	0.02584	GTG		0.517	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		65	85	0	0	0	1	0	65	85				
ZNF682	91120	broad.mit.edu	37	19	20117004	20117004	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:20117004C>G	ENST00000397165.2	-	4	1467	c.1307G>C	c.(1306-1308)cGg>cCg	p.R436P	ZNF682_ENST00000397162.1_Missense_Mutation_p.R404P|ZNF682_ENST00000597972.1_Missense_Mutation_p.R442P|ZNF682_ENST00000358523.5_Missense_Mutation_p.R404P|ZNF682_ENST00000595736.1_Missense_Mutation_p.R360P|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						GTGTGAGCACCGATTAAAGGC	0.388																																						ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(1306-1308)cGg>cCg		zinc finger protein 682							91.0	99.0	96.0					19																	20117004		2181	4293	6474	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20117004C>G	AC006539	CCDS42533.1, CCDS42534.1	19p12	2014-02-13			ENSG00000197124	ENSG00000197124		"""Zinc fingers, C2H2-type"", ""-"""	28857	protein-coding gene	gene with protein product							Standard	NM_033196		Approved	BC39498_3	uc002noq.3	O95780	OTTHUMG00000182650	ENST00000397165.2:c.1307G>C	19.37:g.20117004C>G	ENSP00000380351:p.Arg436Pro					ZNF682_ENST00000397162.1_Missense_Mutation_p.R404P|ZNF682_ENST00000358523.5_Missense_Mutation_p.R404P|ZNF682_ENST00000597972.1_Missense_Mutation_p.R442P|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.R360P	p.R436P	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			4	1467	-			436					B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.1307G>C	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	C	7.679	0.688628	0.14973	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000341262;ENST00000358523	T;T;T	0.36157	1.27;1.27;1.27	1.09	-1.17	0.09648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50548	0.1622	M	0.85041	2.73	0.09310	N	1	D	0.63880	0.993	P	0.56823	0.807	T	0.41342	-0.9514	9	0.59425	D	0.04	.	4.8142	0.13358	0.0:0.5524:0.0:0.4476	.	436	O95780	ZN682_HUMAN	P	436;404;105;404	ENSP00000380351:R436P;ENSP00000380348:R404P;ENSP00000351324:R404P	ENSP00000340236:R105P	R	-	2	0	ZNF682	19978004	0.000000	0.05858	0.020000	0.16555	0.018000	0.09664	-2.036000	0.01421	-0.344000	0.08338	-0.339000	0.08088	CGG		0.388	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		28	68	0	0	0	1	0	28	68				
TRPC4	7223	broad.mit.edu	37	13	38211308	38211308	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:38211308C>T	ENST00000379705.3	-	11	3523	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q	TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.R748Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.R805Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.R716Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.R740Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.R894Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.R716Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.R748Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	889	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGCTAATCCTCGAGATTCCAG	0.468																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(2665-2667)cGa>cAa		transient receptor potential cation channel, subfamily C, member 4							102.0	93.0	96.0					13																	38211308		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38211308C>T	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2666G>A	13.37:g.38211308C>T	ENSP00000369027:p.Arg889Gln					TRPC4_ENST00000358477.2_Missense_Mutation_p.R805Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.R748Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.R740Q|TRPC4_ENST00000338947.5_Missense_Mutation_p.R716Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.R894Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.R748Q|TRPC4_ENST00000379679.1_Missense_Mutation_p.R716Q|TRPC4_ENST00000426868.2_3'UTR	p.R889Q			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	11	3523	-			889			Binds to ITPR1, ITPR2 and ITPR3.		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.2666G>A	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499369	0.26861	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T;T	0.71103	-0.18;-0.18;0.03;0.03;0.21;-0.27;-0.54;0.21	5.3	3.52	0.40303	.	1.058560	0.07445	N	0.898071	T	0.48429	0.1499	N	0.08118	0	0.33623	D	0.605118	B;B;P;P;B;B	0.36378	0.043;0.0;0.546;0.55;0.029;0.226	B;B;B;B;B;B	0.32928	0.016;0.0;0.155;0.062;0.004;0.011	T	0.52215	-0.8605	10	0.30854	T	0.27	-3.9695	7.6023	0.28083	0.0:0.6792:0.0:0.3208	.	748;740;894;716;805;889	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;.;TRPC4_HUMAN	Q	889;894;716;716;748;805;740;748	ENSP00000369027:R889Q;ENSP00000369003:R894Q;ENSP00000342580:R716Q;ENSP00000369001:R716Q;ENSP00000348025:R748Q;ENSP00000351264:R805Q;ENSP00000368995:R740Q;ENSP00000414316:R748Q	ENSP00000342580:R716Q	R	-	2	0	TRPC4	37109308	0.203000	0.23435	0.241000	0.24154	0.951000	0.60555	0.783000	0.26802	1.323000	0.45263	0.563000	0.77884	CGA		0.468	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		4	84	0	0	0	1	0	4	84				
LPHN3	23284	broad.mit.edu	37	4	62935925	62935925	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:62935925C>T	ENST00000514591.1	+	25	4038	c.3709C>T	c.(3709-3711)Ctg>Ttg	p.L1237L	LPHN3_ENST00000512091.2_3'UTR|LPHN3_ENST00000506746.1_Silent_p.L1339L|LPHN3_ENST00000545650.1_Silent_p.L1237L|LPHN3_ENST00000509896.1_3'UTR|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000514996.1_Silent_p.L1271L|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000506720.1_Silent_p.L1348L|LPHN3_ENST00000507625.1_Silent_p.L1296L|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000508946.1_Silent_p.L1280L|LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000508693.1_3'UTR			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1215					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CGGCGAATACCTGAGCAACTG	0.463																																						ENST00000514591.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(3709-3711)Ctg>Ttg		latrophilin 3							56.0	56.0	56.0					4																	62935925		2079	4251	6330	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62935925C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3709C>T	4.37:g.62935925C>T						LPHN3_ENST00000514157.1_3'UTR|LPHN3_ENST00000506746.1_Silent_p.L1339L|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000511324.1_3'UTR|LPHN3_ENST00000506720.1_Silent_p.L1348L|LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000507625.1_Silent_p.L1296L|LPHN3_ENST00000508946.1_Silent_p.L1280L|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000514996.1_Silent_p.L1271L|LPHN3_ENST00000545650.1_Silent_p.L1237L|LPHN3_ENST00000512091.1_3'UTR	p.L1237L			Q9HAR2	LPHN3_HUMAN			25	4038	+			1215					E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.3709C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	2.803	-0.248776	0.05867	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.12	3.03	0.35002	.	.	.	.	.	T	0.60741	0.2292	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58306	-0.7659	4	.	.	.	.	11.1376	0.48383	0.0:0.8269:0.0:0.1731	.	.	.	.	L	685	.	.	P	+	2	0	LPHN3	62618520	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.801000	0.38843	1.155000	0.42497	0.460000	0.39030	CCT		0.463	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			18	23	0	0	0	1	0	18	23				
GRM3	2913	broad.mit.edu	37	7	86415962	86415962	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:86415962T>C	ENST00000361669.2	+	3	1953	c.854T>C	c.(853-855)aTt>aCt	p.I285T	GRM3_ENST00000394720.2_Missense_Mutation_p.I283T|GRM3_ENST00000536043.1_Missense_Mutation_p.I157T|GRM3_ENST00000439827.1_Missense_Mutation_p.I285T|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	285					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CGGGAGCTCATTGCAGCCGCC	0.652																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(853-855)aTt>aCt		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						31.0	37.0	35.0					7																	86415962		2203	4299	6502	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415962T>C		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.854T>C	7.37:g.86415962T>C	ENSP00000355316:p.Ile285Thr					AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.I283T|GRM3_ENST00000439827.1_Missense_Mutation_p.I285T|GRM3_ENST00000536043.1_Missense_Mutation_p.I157T|GRM3_ENST00000546348.1_Intron	p.I285T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1953	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		285					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.854T>C	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.006562	0.74932	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77	6.07	6.07	0.98685	Extracellular ligand-binding receptor (1);	0.189785	0.47852	D	0.000214	D	0.88310	0.6402	L	0.42245	1.32	0.58432	D	0.999998	B;P;B	0.41102	0.345;0.738;0.205	P;P;P	0.62740	0.901;0.542;0.906	D	0.88874	0.3335	10	0.87932	D	0	.	15.8218	0.78654	0.0:0.0:0.0:1.0	.	157;285;285	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	T	285;157;157;285;283	ENSP00000355316:I285T;ENSP00000405427:I157T;ENSP00000441407:I157T;ENSP00000398767:I285T;ENSP00000378209:I283T	ENSP00000355316:I285T	I	+	2	0	GRM3	86253898	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.952000	0.87827	2.326000	0.78906	0.533000	0.62120	ATT		0.652	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			37	43	0	0	0	1	0	37	43				
PLA2G4E	123745	broad.mit.edu	37	15	42292378	42292378	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:42292378G>T	ENST00000399518.3	-	8	1262	c.776C>A	c.(775-777)gCt>gAt	p.A259D	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A230D	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	252					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GAAGCAGGCAGCGGTTTGGAA	0.602																																						ENST00000399518.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(775-777)gCt>gAt		phospholipase A2, group IVE							44.0	51.0	49.0					15																	42292378		2051	4199	6250	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42292378G>T		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000399518.3:c.776C>A	15.37:g.42292378G>T	ENSP00000382434:p.Ala259Asp					PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A230D	p.A259D	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	8	1262	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	252					Q6ZSC0	Missense_Mutation	SNP	ENST00000399518.3	37	c.776C>A	CCDS55962.1	.	.	.	.	.	.	.	.	.	.	G	1.727	-0.495023	0.04322	.	.	ENSG00000188089	ENST00000399518;ENST00000413860	T;T	0.01495	4.93;4.83	0.158	0.158	0.14942	.	1.244260	0.06011	U	0.649500	T	0.01061	0.0035	N	0.08118	0	0.20703	N	0.999866	D	0.54964	0.969	B	0.38194	0.267	T	0.48670	-0.9015	9	0.33940	T	0.23	.	.	.	.	.	230	C9JK77	.	D	259;230	ENSP00000382434:A259D;ENSP00000413897:A230D	ENSP00000382434:A259D	A	-	2	0	PLA2G4E	40079670	0.731000	0.28111	0.844000	0.33320	0.132000	0.20833	0.251000	0.18257	0.202000	0.20498	0.205000	0.17691	GCT		0.602	PLA2G4E-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252738.2	NM_198442		6	7	1	0	0.0215528	1	0.0218218	6	7				
ZNF804B	219578	broad.mit.edu	37	7	88964093	88964093	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:88964093G>A	ENST00000333190.4	+	4	2406	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	599							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATAGTAGTGAGAACAAACTTA	0.383										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(1795-1797)gaG>gaA		zinc finger protein 804B							55.0	58.0	57.0					7																	88964093		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88964093G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1797G>A	7.37:g.88964093G>A		HNSCC(36;0.09)					p.E599E	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2406	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		599					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.1797G>A	CCDS5613.1																																																																																				0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		24	35	0	0	0	1	0	24	35				
PAGE3	139793	broad.mit.edu	37	X	55287042	55287042	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:55287042C>A	ENST00000374951.1	-	4	552	c.244G>T	c.(244-246)Ggt>Tgt	p.G82C	PAGE3_ENST00000519203.1_Missense_Mutation_p.G82C			Q5JUK9	PAGE3_HUMAN	P antigen family, member 3 (prostate associated)	82										endometrium(1)|kidney(1)|lung(1)	3						CCACGTTCACCCCCAGTCTTT	0.378																																						ENST00000374951.1																			0				endometrium(1)|kidney(1)|lung(1)	3						c.(244-246)Ggt>Tgt		P antigen family, member 3 (prostate associated)							58.0	51.0	53.0					X																	55287042		2203	4299	6502	SO:0001583	missense	139793							g.chrX:55287042C>A			Xp11	2009-06-17	2005-01-26	2005-01-27	ENSG00000204279	ENSG00000204279			4110	protein-coding gene	gene with protein product		300739	"""G antigen, family D, 1"""	GAGED1		9724777	Standard	NR_033460		Approved	PAGE-3, CT16.6	uc022bxs.2	Q5JUK9	OTTHUMG00000021654	ENST00000374951.1:c.244G>T	X.37:g.55287042C>A	ENSP00000364089:p.Gly82Cys					PAGE3_ENST00000519203.1_Missense_Mutation_p.G82C	p.G82C							4	552	-								A5D6Y1	Missense_Mutation	SNP	ENST00000374951.1	37	c.244G>T		.	.	.	.	.	.	.	.	.	.	.	7.823	0.718091	0.15372	.	.	ENSG00000204279	ENST00000374951;ENST00000519203	T;T	0.09163	3.01;3.01	1.01	1.01	0.19927	.	.	.	.	.	T	0.07503	0.0189	.	.	.	0.09310	N	1	P	0.40553	0.721	B	0.37346	0.247	T	0.29579	-1.0007	8	0.45353	T	0.12	.	5.0813	0.14659	0.0:1.0:0.0:0.0	.	82	Q5JUK9	GGED1_HUMAN	C	82	ENSP00000364089:G82C;ENSP00000429571:G82C	ENSP00000364089:G82C	G	-	1	0	PAGE3	55303767	0.005000	0.15991	0.080000	0.20451	0.151000	0.21798	-0.886000	0.04157	0.796000	0.33947	0.284000	0.19432	GGT		0.378	PAGE3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000056867.2	XM_060054		11	8	1	0	3.86212e-05	1	4.13394e-05	11	8				
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:7577610T>A	ENST00000269305.4	-	7	862		c.e7-2		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGAGCCAACCTAGGAGATAAC	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		53	Unknown(43)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	lung(16)|liver(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|breast(4)|bone(4)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e7-2	Other conserved DNA damage response genes	tumor protein p53							88.0	74.0	79.0					17																	7577610		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577610T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-2A>T	17.37:g.7577610T>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	805	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583355	0.65992	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3302	0.43818	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518335	1.000000	0.71417	0.324000	0.25361	0.557000	0.35523	7.634000	0.83273	1.750000	0.51863	0.379000	0.24179	.		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	86	19	0	0	0	1	0	86	19				
ARHGAP15	55843	broad.mit.edu	37	2	143913225	143913225	+	Splice_Site	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:143913225G>C	ENST00000295095.6	+	2	332		c.e2+1		ARHGAP15_ENST00000409869.1_Splice_Site	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15						positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CACTGAACCTGTAAGTCAAAT	0.383																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.e3+1		Rho GTPase activating protein 15							94.0	88.0	90.0					2																	143913225		2203	4300	6503	SO:0001630	splice_region_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143913225G>C	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.165+1G>C	2.37:g.143913225G>C						ARHGAP15_ENST00000295095.6_Splice_Site				Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	3	342	+								Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Splice_Site	SNP	ENST00000295095.6	37		CCDS2184.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389933	0.82902	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP15	143629695	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	7.159000	0.77483	2.884000	0.98904	0.655000	0.94253	.		0.383	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460	Intron	19	43	0	0	0	1	0	19	43				
ZIC4	84107	broad.mit.edu	37	3	147113786	147113786	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:147113786G>T	ENST00000383075.3	-	3	1053	c.541C>A	c.(541-543)Cag>Aag	p.Q181K	ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.Q181K|ZIC4_ENST00000525172.2_Missense_Mutation_p.Q231K|ZIC4_ENST00000425731.3_Missense_Mutation_p.Q219K|ZIC4_ENST00000473123.1_Missense_Mutation_p.Q181K	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	181						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGCTTTCCCTGGCGCGGACAC	0.592																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(541-543)Cag>Aag		Zic family member 4							117.0	128.0	124.0					3																	147113786		2203	4300	6503	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147113786G>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.541C>A	3.37:g.147113786G>T	ENSP00000372553:p.Gln181Lys					ZIC4_ENST00000525172.2_Missense_Mutation_p.Q231K|ZIC4_ENST00000484399.1_Missense_Mutation_p.Q181K|ZIC4_ENST00000473123.1_Missense_Mutation_p.Q181K|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.Q219K	p.Q181K	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			3	1053	-			181					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.541C>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441909	0.63067	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000462748	D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	5.2	3.31	0.37934	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.163835	0.28790	N	0.014137	D	0.82513	0.5053	N	0.02011	-0.69	0.80722	D	1	B;B	0.16603	0.018;0.0	B;B	0.12156	0.007;0.001	T	0.78360	-0.2234	10	0.62326	D	0.03	.	13.9379	0.64036	0.0:0.6154:0.3846:0.0	.	231;181	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	K	181;219;231;181;181;181	ENSP00000372553:Q181K;ENSP00000397695:Q219K;ENSP00000435509:Q231K;ENSP00000417855:Q181K;ENSP00000420775:Q181K;ENSP00000420627:Q181K	ENSP00000372553:Q181K	Q	-	1	0	ZIC4	148596476	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.639000	0.46570	1.152000	0.42452	0.511000	0.50034	CAG		0.592	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			101	155	1	0	1.2656e-43	1	1.88165e-43	101	155				
SHPRH	257218	broad.mit.edu	37	6	146268684	146268684	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:146268684A>G	ENST00000367505.2	-	6	1421	c.1157T>C	c.(1156-1158)cTg>cCg	p.L386P	SHPRH_ENST00000438092.2_Missense_Mutation_p.L386P|SHPRH_ENST00000367503.3_Missense_Mutation_p.L386P|SHPRH_ENST00000275233.7_Missense_Mutation_p.L386P			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	386	Helicase ATP-binding; first part. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTCAGAATCAGAGCCAAAAC	0.483																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1156-1158)cTg>cCg		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							138.0	134.0	135.0					6																	146268684		1943	4142	6085	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146268684A>G	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1157T>C	6.37:g.146268684A>G	ENSP00000356475:p.Leu386Pro					SHPRH_ENST00000367505.2_Missense_Mutation_p.L386P|SHPRH_ENST00000275233.7_Missense_Mutation_p.L386P|SHPRH_ENST00000438092.2_Missense_Mutation_p.L386P	p.L386P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	6	1555	-		Ovarian(120;0.0365)	386			Helicase ATP-binding; first part.		Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.1157T>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753105	0.89753	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	D;D;D;D	0.95656	-3.77;-3.77;-3.77;-3.77	5.62	5.62	0.85841	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.56097	D	0.000032	D	0.96793	0.8953	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.97558	1.0096	10	0.72032	D	0.01	-11.5571	16.1251	0.81386	1.0:0.0:0.0:0.0	.	275;386;386;275	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	P	386;386;386;386;275	ENSP00000356475:L386P;ENSP00000356473:L386P;ENSP00000412797:L386P;ENSP00000275233:L386P	ENSP00000275233:L386P	L	-	2	0	SHPRH	146310377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.267000	0.75376	0.477000	0.44152	CTG		0.483	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		41	64	0	0	0	1	0	41	64				
ESPL1	9700	broad.mit.edu	37	12	53663740	53663740	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:53663740G>A	ENST00000257934.4	+	3	1105	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	ESPL1_ENST00000552462.1_Silent_p.E338E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	338					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATTGTATGAGAGCTGCCAGT	0.537																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1012-1014)gaG>gaA		extra spindle pole bodies homolog 1 (S. cerevisiae)							76.0	80.0	79.0					12																	53663740		2203	4300	6503	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663740G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1014G>A	12.37:g.53663740G>A						ESPL1_ENST00000552462.1_Silent_p.E338E	p.E338E	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	1105	+			338						Silent	SNP	ENST00000257934.4	37	c.1014G>A	CCDS8852.1																																																																																				0.537	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		15	49	0	0	0	1	0	15	49				
AHDC1	27245	broad.mit.edu	37	1	27875113	27875113	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:27875113G>C	ENST00000247087.5	-	5	4110	c.3514C>G	c.(3514-3516)Cag>Gag	p.Q1172E	AHDC1_ENST00000374011.2_Missense_Mutation_p.Q1172E			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1172							DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGATTGAACTGGGTGCTGTCG	0.597																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(3514-3516)Cag>Gag		AT hook, DNA binding motif, containing 1							62.0	59.0	60.0					1																	27875113		2203	4300	6503	SO:0001583	missense	27245						DNA binding	g.chr1:27875113G>C	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3514C>G	1.37:g.27875113G>C	ENSP00000247087:p.Gln1172Glu					AHDC1_ENST00000247087.5_Missense_Mutation_p.Q1172E|AHDC1_ENST00000482400.2_Intron	p.Q1172E	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	4482	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1172					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.3514C>G	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969875	0.53614	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.50813	0.73;0.73	5.8	5.8	0.92144	.	0.089550	0.44285	D	0.000463	T	0.50480	0.1618	N	0.24115	0.695	0.54753	D	0.999982	P	0.51933	0.949	P	0.53649	0.731	T	0.52457	-0.8573	10	0.66056	D	0.02	-11.8201	18.8259	0.92119	0.0:0.0:1.0:0.0	.	1172	Q5TGY3	AHDC1_HUMAN	E	1172	ENSP00000247087:Q1172E;ENSP00000363123:Q1172E	ENSP00000247087:Q1172E	Q	-	1	0	AHDC1	27747700	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	9.334000	0.96470	2.746000	0.94184	0.591000	0.81541	CAG		0.597	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			20	77	0	0	0	1	0	20	77				
OR13G1	441933	broad.mit.edu	37	1	247835613	247835613	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:247835613A>T	ENST00000359688.2	-	1	752	c.731T>A	c.(730-732)gTg>gAg	p.V244E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAGGGTCACCACTGTGAGATG	0.448																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(730-732)gTg>gAg		olfactory receptor, family 13, subfamily G, member 1							162.0	139.0	147.0					1																	247835613		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835613A>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.731T>A	1.37:g.247835613A>T	ENSP00000352717:p.Val244Glu					RP11-634B7.4_ENST00000449298.1_RNA	p.V244E	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	752	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		244					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.731T>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.405083	0.25378	.	.	ENSG00000197437	ENST00000359688	T	0.00285	8.3	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39615	N	0.001320	T	0.00967	0.0032	H	0.96691	3.865	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.21895	-1.0232	10	0.87932	D	0	-35.8926	7.9626	0.30081	0.7917:0.2083:0.0:0.0	.	244	Q8NGZ3	O13G1_HUMAN	E	244	ENSP00000352717:V244E	ENSP00000352717:V244E	V	-	2	0	OR13G1	245902236	0.018000	0.18449	0.028000	0.17463	0.076000	0.17211	0.824000	0.27379	1.888000	0.54679	0.460000	0.39030	GTG		0.448	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		43	81	0	0	0	1	0	43	81				
COL11A2	1302	broad.mit.edu	37	6	33156797	33156797	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:33156797G>C	ENST00000374708.4	-	3	659	c.401C>G	c.(400-402)cCc>cGc	p.P134R	COL11A2_ENST00000395197.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374713.1_Missense_Mutation_p.P134R|COL11A2_ENST00000357486.1_Missense_Mutation_p.P134R|COL11A2_ENST00000361917.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374712.1_Missense_Mutation_p.P134R|COL11A2_ENST00000395194.1_Missense_Mutation_p.P134R|COL11A2_ENST00000341947.2_Missense_Mutation_p.P134R|COL11A2_ENST00000374714.1_Missense_Mutation_p.P134R	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	134	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGGCTGAGAGGGAGGTTGAGG	0.612																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(400-402)cCc>cGc		collagen, type XI, alpha 2							89.0	100.0	96.0					6																	33156797		2203	4300	6503	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33156797G>C	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.401C>G	6.37:g.33156797G>C	ENSP00000363840:p.Pro134Arg					COL11A2_ENST00000357486.1_Missense_Mutation_p.P134R|COL11A2_ENST00000361917.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374708.4_Missense_Mutation_p.P134R|COL11A2_ENST00000374713.1_Missense_Mutation_p.P134R|COL11A2_ENST00000395197.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374714.1_Missense_Mutation_p.P134R|COL11A2_ENST00000395194.1_Missense_Mutation_p.P134R|COL11A2_ENST00000374712.1_Missense_Mutation_p.P134R	p.P134R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			3	628	-			134			TSP N-terminal.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.401C>G	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	8.953	0.968671	0.18659	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.02067	4.47;4.47;4.47;4.47;4.47;4.47;4.47;4.47;4.47;4.47	3.45	2.39	0.29439	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.251060	0.30704	N	0.009054	T	0.00608	0.0020	N	0.12182	0.205	0.09310	N	0.999999	P;B;B;P	0.40970	0.734;0.144;0.144;0.664	B;B;B;B	0.42916	0.402;0.015;0.015;0.365	T	0.48917	-0.8992	10	0.66056	D	0.02	.	3.1748	0.06565	0.1747:0.0:0.585:0.2403	.	134;134;134;134	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	R	134	ENSP00000363840:P134R;ENSP00000339915:P134R;ENSP00000350079:P134R;ENSP00000363846:P134R;ENSP00000363845:P134R;ENSP00000378623:P134R;ENSP00000363844:P134R;ENSP00000355123:P134R;ENSP00000405520:P134R;ENSP00000378620:P134R	ENSP00000339915:P134R	P	-	2	0	COL11A2	33264775	0.990000	0.36364	0.017000	0.16124	0.467000	0.32768	2.462000	0.45049	0.795000	0.33922	0.551000	0.68910	CCC		0.612	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			55	149	0	0	0	1	0	55	149				
OR8H1	219469	broad.mit.edu	37	11	56058149	56058149	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:56058149A>G	ENST00000313022.2	-	1	417	c.390T>C	c.(388-390)cgT>cgC	p.R130R		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TAACTGGGTAACGTAGAGGAC	0.443																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(388-390)cgT>cgC		olfactory receptor, family 8, subfamily H, member 1							106.0	103.0	104.0					11																	56058149		2201	4296	6497	SO:0001819	synonymous_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058149A>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.390T>C	11.37:g.56058149A>G							p.R130R	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	417	-	Esophageal squamous(21;0.00448)		130					B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	c.390T>C	CCDS31526.1																																																																																				0.443	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		8	108	0	0	0	1	0	8	108				
OR14C36	127066	broad.mit.edu	37	1	248512662	248512662	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:248512662A>G	ENST00000317861.1	+	1	586	c.586A>G	c.(586-588)Atg>Gtg	p.M196V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAATGAGGTCATGATTGTTGT	0.498																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(586-588)Atg>Gtg		olfactory receptor, family 14, subfamily C, member 36							158.0	144.0	149.0					1																	248512662		2203	4300	6503	SO:0001583	missense	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512662A>G	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.586A>G	1.37:g.248512662A>G	ENSP00000324534:p.Met196Val						p.M196V	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	586	+			196					Q6IEZ6	Missense_Mutation	SNP	ENST00000317861.1	37	c.586A>G	CCDS31112.1	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.645610	0.00792	.	.	ENSG00000177174	ENST00000317861	T	0.35789	1.29	4.05	-8.1	0.01086	GPCR, rhodopsin-like superfamily (1);	2.266520	0.02129	N	0.056248	T	0.10208	0.0250	N	0.01454	-0.855	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16867	-1.0388	10	0.11794	T	0.64	.	2.1719	0.03852	0.4682:0.2308:0.1915:0.1095	.	196	Q8NHC7	O14CZ_HUMAN	V	196	ENSP00000324534:M196V	ENSP00000324534:M196V	M	+	1	0	OR14C36	246579285	0.000000	0.05858	0.000000	0.03702	0.447000	0.32167	-2.336000	0.01105	-4.121000	0.00072	0.324000	0.21423	ATG		0.498	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		33	75	0	0	0	1	0	33	75				
WNK2	65268	broad.mit.edu	37	9	96021458	96021458	+	Silent	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:96021458T>C	ENST00000297954.4	+	11	2628	c.2628T>C	c.(2626-2628)atT>atC	p.I876I	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Silent_p.I488I|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395477.2_Silent_p.I876I|WNK2_ENST00000349097.3_Silent_p.I488I	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	876					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCCGGACCATTGTGCCAAATG	0.706																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(2626-2628)atT>atC		WNK lysine deficient protein kinase 2							23.0	24.0	24.0					9																	96021458		2203	4298	6501	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96021458T>C	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.2628T>C	9.37:g.96021458T>C						WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Silent_p.I488I|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Silent_p.I876I|WNK2_ENST00000349097.3_Silent_p.I488I	p.I876I			Q9Y3S1	WNK2_HUMAN			11	2628	+			876					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.2628T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.797|6.797	0.516162|0.516162	0.12944|0.12944	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730	.|.	.|.	.|.	5.11|5.11	-2.39|-2.39	0.06602|0.06602	.|.	.|.	.|.	.|.	.|.	T|T	0.50188|0.50188	0.1601|0.1601	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.44498|0.44498	-0.9324|-0.9324	4|4	.|.	.|.	.|.	.|.	6.3646|6.3646	0.21447|0.21447	0.1834:0.302:0.0:0.5145|0.1834:0.302:0.0:0.5145	.|.	.|.	.|.	.|.	R|S	480|872	.|.	.|.	C|L	+|+	1|2	0|0	WNK2|WNK2	95061279|95061279	0.014000|0.014000	0.17966|0.17966	0.995000|0.995000	0.50966|0.50966	0.550000|0.550000	0.35303|0.35303	-1.290000|-1.290000	0.02777|0.02777	-0.240000|-0.240000	0.09696|0.09696	-0.464000|-0.464000	0.05259|0.05259	TGT|TTG		0.706	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		25	31	0	0	0	1	0	25	31				
IFIT1	3434	broad.mit.edu	37	10	91163206	91163206	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:91163206A>G	ENST00000371804.3	+	2	1341	c.1174A>G	c.(1174-1176)Aag>Gag	p.K392E	IFIT1_ENST00000546318.1_Missense_Mutation_p.K361E|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	392					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GGAATTTCAAAAGAAATCTGA	0.308																																						ENST00000546318.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(1081-1083)Aag>Gag		interferon-induced protein with tetratricopeptide repeats 1							42.0	43.0	43.0					10																	91163206		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91163206A>G	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.1174A>G	10.37:g.91163206A>G	ENSP00000360869:p.Lys392Glu					IFIT1_ENST00000371804.3_Missense_Mutation_p.K392E|LIPA_ENST00000371837.1_Intron	p.K361E	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	2368	+			392					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.1081A>G	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447398	0.43429	.	.	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.62788	0.0;0.0	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);	0.598725	0.17504	N	0.171888	T	0.57154	0.2034	M	0.78637	2.42	0.09310	N	0.999998	P;P	0.38922	0.651;0.651	B;B	0.27887	0.084;0.084	T	0.57306	-0.7834	10	0.10636	T	0.68	.	15.2959	0.73906	1.0:0.0:0.0:0.0	.	392;392	Q5T7J1;P09914	.;IFIT1_HUMAN	E	392;361	ENSP00000360869:K392E;ENSP00000441968:K361E	ENSP00000360869:K392E	K	+	1	0	IFIT1	91153186	0.008000	0.16893	0.638000	0.29380	0.685000	0.39939	2.260000	0.43267	2.252000	0.74401	0.528000	0.53228	AAG		0.308	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		22	17	0	0	0	1	0	22	17				
OR8H1	219469	broad.mit.edu	37	11	56058167	56058167	+	Silent	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:56058167A>C	ENST00000313022.2	-	1	399	c.372T>G	c.(370-372)gcT>gcG	p.A124A		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GACTGCAGATAGCTACGTAGC	0.448																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(370-372)gcT>gcG		olfactory receptor, family 8, subfamily H, member 1							126.0	122.0	124.0					11																	56058167		2201	4296	6497	SO:0001819	synonymous_variant	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058167A>C	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.372T>G	11.37:g.56058167A>C							p.A124A	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	399	-	Esophageal squamous(21;0.00448)		124					B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	c.372T>G	CCDS31526.1																																																																																				0.448	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		8	121	0	0	0	1	0	8	121				
LRRC15	131578	broad.mit.edu	37	3	194080707	194080707	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:194080707G>C	ENST00000347624.3	-	2	1151	c.1066C>G	c.(1066-1068)Ctg>Gtg	p.L356V	LRRC15_ENST00000439944.2_Missense_Mutation_p.L362V|LRRC15_ENST00000428839.1_Missense_Mutation_p.L362V	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	356					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTCCCGTCCAGGTCCTGCAGT	0.577																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1066-1068)Ctg>Gtg		leucine rich repeat containing 15							63.0	60.0	61.0					3																	194080707		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080707G>C	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1066C>G	3.37:g.194080707G>C	ENSP00000306276:p.Leu356Val					LRRC15_ENST00000428839.1_Missense_Mutation_p.L362V|LRRC15_ENST00000439944.2_Missense_Mutation_p.L362V	p.L356V	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1151	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		356					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1066C>G	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291453	0.23564	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.32753	1.44;1.44;1.44	4.91	4.04	0.47022	.	0.000000	0.50627	D	0.000114	T	0.48409	0.1498	L	0.58101	1.795	0.40044	D	0.975699	D;D	0.89917	0.999;1.0	D;D	0.83275	0.987;0.996	T	0.49826	-0.8898	10	0.66056	D	0.02	.	9.7986	0.40751	0.1582:0.0:0.8418:0.0	.	356;362	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	V	356;362;362	ENSP00000306276:L356V;ENSP00000389128:L362V;ENSP00000413707:L362V	ENSP00000306276:L356V	L	-	1	2	LRRC15	195562002	0.975000	0.34042	1.000000	0.80357	0.089000	0.18198	0.950000	0.29122	1.207000	0.43291	0.655000	0.94253	CTG		0.577	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			37	55	0	0	0	1	0	37	55				
AEBP1	165	broad.mit.edu	37	7	44147650	44147650	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:44147650G>T	ENST00000223357.3	+	6	1212	c.907G>T	c.(907-909)Ggt>Tgt	p.G303C	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_5'Flank	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	303	Pro-rich.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCTGACTATGGTGATGGTTA	0.652																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(907-909)Ggt>Tgt		AE binding protein 1							24.0	21.0	22.0					7																	44147650		2199	4289	6488	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44147650G>T	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.907G>T	7.37:g.44147650G>T	ENSP00000223357:p.Gly303Cys						p.G303C	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			6	1212	+			303			Pro-rich.		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.907G>T	CCDS5476.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.70|13.70	2.314429|2.314429	0.40996|0.40996	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000223357|ENST00000455443	D|.	0.95447|.	-3.71|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	1.000500|.	0.08066|.	N|.	0.999122|.	T|T	0.49115|0.49115	0.1538|0.1538	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	D|.	0.59767|.	0.986|.	P|.	0.51453|.	0.67|.	T|T	0.43782|0.43782	-0.9370|-0.9370	10|5	0.72032|.	D|.	0.01|.	-16.922|-16.922	13.2925|13.2925	0.60278|0.60278	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	303|.	Q8IUX7|.	AEBP1_HUMAN|.	C|L	303|195	ENSP00000223357:G303C|.	ENSP00000223357:G303C|.	G|W	+|+	1|2	0|0	AEBP1|AEBP1	44114175|44114175	0.003000|0.003000	0.15002|0.15002	0.815000|0.815000	0.32552|0.32552	0.713000|0.713000	0.41058|0.41058	1.239000|1.239000	0.32719|0.32719	2.201000|2.201000	0.70794|0.70794	0.491000|0.491000	0.48974|0.48974	GGT|TGG		0.652	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		8	3	1	0	1.12685e-05	1	1.22593e-05	8	3				
NALCN	259232	broad.mit.edu	37	13	101997662	101997662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:101997662C>A	ENST00000251127.6	-	7	835	c.754G>T	c.(754-756)Gga>Tga	p.G252*	NALCN_ENST00000376196.3_Nonsense_Mutation_p.G252*|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	252					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTGCTAAGTCCCAGATCTTCA	0.428																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(754-756)Gga>Tga		sodium leak channel, non-selective							177.0	164.0	168.0					13																	101997662		2203	4300	6503	SO:0001587	stop_gained	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101997662C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.754G>T	13.37:g.101997662C>A	ENSP00000251127:p.Gly252*					NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Nonsense_Mutation_p.G252*	p.G252*	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			7	835	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		252					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.754G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	39	7.825439	0.98510	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	.	.	.	X	252	.	ENSP00000251127:G252X	G	-	1	0	NALCN	100795663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.788000	0.95919	0.650000	0.86243	GGA		0.428	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		39	81	1	0	1.30091e-30	1	1.87681e-30	39	81				
ROS1	6098	broad.mit.edu	37	6	117718215	117718215	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:117718215G>T	ENST00000368508.3	-	7	840	c.642C>A	c.(640-642)agC>agA	p.S214R	ROS1_ENST00000368507.3_Missense_Mutation_p.S223R|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	214	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTGGATCCCAGCTGACTTCCA	0.423			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(640-642)agC>agA		c-ros oncogene 1 , receptor tyrosine kinase							111.0	110.0	110.0					6																	117718215		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117718215G>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.642C>A	6.37:g.117718215G>T	ENSP00000357494:p.Ser214Arg					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S223R	p.S214R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	7	840	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	214			Fibronectin type-III 2.		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.642C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379941	0.61845	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.60171	0.21;0.21	5.53	-0.879	0.10613	.	0.070917	0.64402	D	0.000012	T	0.32376	0.0827	L	0.39692	1.235	0.80722	D	1	P	0.43788	0.817	B	0.42882	0.401	T	0.18935	-1.0321	10	0.46703	T	0.11	.	11.5893	0.50938	0.4538:0.0:0.5462:0.0	.	214	P08922	ROS1_HUMAN	R	214;223	ENSP00000357494:S214R;ENSP00000357493:S223R	ENSP00000357493:S223R	S	-	3	2	ROS1	117824908	0.006000	0.16342	0.976000	0.42696	0.996000	0.88848	-1.508000	0.02266	-0.145000	0.11294	0.650000	0.86243	AGC		0.423	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			44	71	1	0	9.9998e-32	1	1.44552e-31	44	71				
ABHD12	26090	broad.mit.edu	37	20	25300923	25300923	+	Missense_Mutation	SNP	C	C	A	rs569637456		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:25300923C>A	ENST00000339157.5	-	4	726	c.454G>T	c.(454-456)Gcc>Tcc	p.A152S	ABHD12_ENST00000376542.3_Missense_Mutation_p.A152S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	152					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						TTGCCTTGGGCGTTCTTCCAC	0.582																																						ENST00000339157.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						c.(454-456)Gcc>Tcc		abhydrolase domain containing 12							141.0	98.0	113.0					20																	25300923		2203	4300	6503	SO:0001583	missense	26090					integral to membrane	acylglycerol lipase activity	g.chr20:25300923C>A	AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.454G>T	20.37:g.25300923C>A	ENSP00000341408:p.Ala152Ser					ABHD12_ENST00000376542.3_Missense_Mutation_p.A152S	p.A152S	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN			4	726	-			152					A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	37	c.454G>T	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803838	0.90623	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543;ENST00000450393	T;T;T	0.51574	0.7;0.7;0.7	5.57	5.57	0.84162	.	0.092536	0.85682	N	0.000000	T	0.68970	0.3059	M	0.75615	2.305	0.80722	D	1	D;D;D	0.69078	0.995;0.997;0.997	D;D;D	0.76575	0.956;0.988;0.958	T	0.64483	-0.6397	10	0.27082	T	0.32	-12.0255	19.1504	0.93485	0.0:1.0:0.0:0.0	.	107;152;152	Q5T712;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	S	152;152;114;107	ENSP00000365725:A152S;ENSP00000341408:A152S;ENSP00000413311:A107S	ENSP00000341408:A152S	A	-	1	0	ABHD12	25248923	1.000000	0.71417	0.962000	0.40283	0.969000	0.65631	6.432000	0.73400	2.618000	0.88619	0.655000	0.94253	GCC		0.582	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2	NM_015600		18	39	1	0	5.35267e-07	1	5.93837e-07	18	39				
LCA5	167691	broad.mit.edu	37	6	80198927	80198927	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:80198927G>C	ENST00000392959.1	-	8	1716	c.1105C>G	c.(1105-1107)Caa>Gaa	p.Q369E	LCA5_ENST00000369846.4_Missense_Mutation_p.Q369E|LCA5_ENST00000467898.3_Missense_Mutation_p.Q369E	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	369					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTTGAGATTGCAAGTCCTAT	0.348																																						ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(1105-1107)Caa>Gaa		Leber congenital amaurosis 5							105.0	99.0	101.0					6																	80198927		2202	4299	6501	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80198927G>C		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1105C>G	6.37:g.80198927G>C	ENSP00000376686:p.Gln369Glu					LCA5_ENST00000467898.2_Missense_Mutation_p.Q369E|LCA5_ENST00000369846.4_Missense_Mutation_p.Q369E	p.Q369E	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	8	1716	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	369					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.1105C>G	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.765791	0.00082	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.27256	1.68;1.68	4.72	-0.462	0.12168	.	0.715131	0.14201	N	0.334701	T	0.00906	0.0030	N	0.00327	-1.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41288	-0.9517	10	0.02654	T	1	-2.2956	1.7001	0.02870	0.1331:0.4078:0.1352:0.3239	.	369	Q86VQ0	LCA5_HUMAN	E	369	ENSP00000358861:Q369E;ENSP00000376686:Q369E	ENSP00000358861:Q369E	Q	-	1	0	LCA5	80255646	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.182000	0.09726	-0.002000	0.14469	-0.147000	0.13772	CAA		0.348	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		16	41	0	0	0	1	0	16	41				
ARHGEF28	64283	broad.mit.edu	37	5	73181874	73181874	+	Missense_Mutation	SNP	G	G	T	rs572905410		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:73181874G>T	ENST00000426542.2	+	24	3275	c.3255G>T	c.(3253-3255)agG>agT	p.R1085S	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R772S|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.R49S|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R1085S			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1085					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										GTGAAGAAAGGACTCTGTTAT	0.388																																						ENST00000545377.1																			0											c.(3253-3255)agG>agT		Rho guanine nucleotide exchange factor (GEF) 28							100.0	103.0	102.0					5																	73181874		1914	4140	6054	SO:0001583	missense	64283							g.chr5:73181874G>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.3255G>T	5.37:g.73181874G>T	ENSP00000412175:p.Arg1085Ser					ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.R772S|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.R49S|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R1085S|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.R1085S	p.R1085S	NM_001080479.2	NP_001073948.2					25	3431	+								B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.3255G>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666280	0.67814	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T;T	0.74421	-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84;-0.84	5.92	4.13	0.48395	Pleckstrin homology-type (1);	0.000000	0.34067	U	0.004296	D	0.83538	0.5276	M	0.72576	2.205	0.43803	D	0.996358	D;D;D;D;D	0.89917	0.999;1.0;0.993;1.0;0.996	D;D;D;D;D	0.80764	0.962;0.994;0.951;0.988;0.97	D	0.85064	0.0936	10	0.87932	D	0	.	11.1715	0.48573	0.1976:0.0:0.8024:0.0	.	772;1085;1085;49;1085	B5MDA3;Q8N1W1;E9PC75;D6RGZ3;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	S	1085;1085;1085;1085;1085;1085;772;49	ENSP00000296794:R1085S;ENSP00000441913:R1085S;ENSP00000441436:R1085S;ENSP00000287898:R1085S;ENSP00000411459:R1085S;ENSP00000412175:R1085S;ENSP00000296799:R772S;ENSP00000421081:R49S	ENSP00000287898:R1085S	R	+	3	2	RP11-428C6.1	73217630	0.998000	0.40836	0.935000	0.37517	0.721000	0.41392	1.218000	0.32467	1.509000	0.48786	0.655000	0.94253	AGG		0.388	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1			27	20	1	0	2.44723e-14	1	3.06955e-14	27	20				
SERBP1	26135	broad.mit.edu	37	1	67880980	67880980	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:67880980G>C	ENST00000370995.2	-	7	1124	c.1039C>G	c.(1039-1041)Cca>Gca	p.P347A	SERBP1_ENST00000370994.4_Missense_Mutation_p.P326A|SERBP1_ENST00000361219.6_Missense_Mutation_p.P332A|SERBP1_ENST00000370990.5_Missense_Mutation_p.P341A|RNU6-387P_ENST00000411331.1_RNA			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	347					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						TCATTTGCTGGCTTCCGGAAA	0.468																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(976-978)Cca>Gca		SERPINE1 mRNA binding protein 1							70.0	74.0	73.0					1																	67880980		2203	4300	6503	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67880980G>C	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.1039C>G	1.37:g.67880980G>C	ENSP00000360034:p.Pro347Ala					SERBP1_ENST00000361219.6_Missense_Mutation_p.P332A|SERBP1_ENST00000370990.5_Missense_Mutation_p.P341A|SERBP1_ENST00000370995.2_Missense_Mutation_p.P347A	p.P326A	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN			7	1090	-			347					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.976C>G	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995299	0.74703	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.65291	0.2677	L	0.48362	1.52	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.995;0.998	D;D;P;D	0.78314	0.991;0.937;0.879;0.917	T	0.56062	-0.8041	9	0.10111	T	0.7	-22.2468	20.1057	0.97893	0.0:0.0:1.0:0.0	.	389;404;332;347	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	A	326;347;332;341	.	ENSP00000354591:P332A	P	-	1	0	SERBP1	67653568	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.705000	0.84606	2.827000	0.97445	0.650000	0.86243	CCA		0.468	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		41	62	0	0	0	1	0	41	62				
MAGI2	9863	broad.mit.edu	37	7	78150894	78150894	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:78150894T>C	ENST00000354212.4	-	4	860	c.607A>G	c.(607-609)Ata>Gta	p.I203V	MAGI2_ENST00000535697.1_Missense_Mutation_p.I40V|MAGI2_ENST00000419488.1_Missense_Mutation_p.I203V|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000522391.1_Missense_Mutation_p.I203V|MAGI2_ENST00000536571.1_Missense_Mutation_p.I35V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	203	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTGGAAGTATCTGGTCTGTT	0.448																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(607-609)Ata>Gta		membrane associated guanylate kinase, WW and PDZ domain containing 2							230.0	234.0	233.0					7																	78150894		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78150894T>C	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.607A>G	7.37:g.78150894T>C	ENSP00000346151:p.Ile203Val					MAGI2_ENST00000535697.1_Missense_Mutation_p.I40V|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000522391.1_Missense_Mutation_p.I203V|MAGI2_ENST00000419488.1_Missense_Mutation_p.I203V|MAGI2_ENST00000536571.1_Missense_Mutation_p.I35V	p.I203V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			4	860	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	203			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.607A>G	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	T	4.160	0.028182	0.08054	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.41758	0.99;0.99;0.99;3.96;0.99	5.67	5.67	0.87782	Guanylate kinase/L-type calcium channel (1);	0.000000	0.35124	U	0.003429	T	0.19927	0.0479	N	0.03050	-0.425	0.40249	D	0.978049	B;B;B;B	0.27229	0.0;0.012;0.034;0.172	B;B;B;B	0.22753	0.001;0.005;0.028;0.041	T	0.17410	-1.0370	10	0.14252	T	0.57	.	15.1016	0.72284	0.0:0.0:0.0:1.0	.	40;35;203;203	F5GWH1;F5GWK7;Q86UL8-2;Q86UL8	.;.;.;MAGI2_HUMAN	V	203;203;203;203;35;40	ENSP00000405766:I203V;ENSP00000346151:I203V;ENSP00000428389:I203V;ENSP00000441584:I35V;ENSP00000441603:I40V	ENSP00000346151:I203V	I	-	1	0	MAGI2	77988830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.886000	0.63149	2.164000	0.68074	0.533000	0.62120	ATA		0.448	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		51	204	0	0	0	1	0	51	204				
MMP20	9313	broad.mit.edu	37	11	102464297	102464297	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:102464297G>T	ENST00000260228.2	-	8	1132	c.1120C>A	c.(1120-1122)Caa>Aaa	p.Q374K	MMP20_ENST00000544938.1_5'Flank	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	397					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	CCTTGCATTTGGAATCCTCTT	0.443																																						ENST00000260228.2																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1120-1122)Caa>Aaa		matrix metallopeptidase 20							90.0	84.0	86.0					11																	102464297		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102464297G>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.1120C>A	11.37:g.102464297G>T	ENSP00000260228:p.Gln374Lys						p.Q374K	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	8	1132	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	374			Hemopexin-like 2.		D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.1120C>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594902	0.46318	.	.	ENSG00000137674	ENST00000260228	T	0.02472	4.28	5.06	4.11	0.48088	Hemopexin/matrixin (2);	1.309190	0.04908	N	0.452639	T	0.04815	0.0130	L	0.36672	1.1	0.30528	N	0.76774	B	0.14438	0.01	B	0.09377	0.004	T	0.15925	-1.0420	10	0.66056	D	0.02	.	13.9944	0.64388	0.0:0.0:0.8486:0.1514	.	374	O60882	MMP20_HUMAN	K	374	ENSP00000260228:Q374K	ENSP00000260228:Q374K	Q	-	1	0	MMP20	101969507	1.000000	0.71417	0.995000	0.50966	0.872000	0.50106	3.866000	0.56040	2.630000	0.89119	0.650000	0.86243	CAA		0.443	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			28	57	1	0	1.32181e-22	1	1.83445e-22	28	57				
FRY	10129	broad.mit.edu	37	13	32813404	32813404	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:32813404T>A	ENST00000380250.3	+	45	6930	c.6434T>A	c.(6433-6435)gTc>gAc	p.V2145D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2145						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACTGAATGTCTTGTGTCTC	0.393																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(6433-6435)gTc>gAc		furry homolog (Drosophila)							128.0	115.0	119.0					13																	32813404		1885	4128	6013	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32813404T>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6434T>A	13.37:g.32813404T>A	ENSP00000369600:p.Val2145Asp						p.V2145D	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	45	6930	+		Lung SC(185;0.0271)	2145					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6434T>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.522800	0.85600	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.30714	1.52	5.63	5.63	0.86233	.	0.113597	0.64402	D	0.000014	T	0.54382	0.1855	M	0.69823	2.125	0.80722	D	1	P	0.49253	0.921	D	0.63192	0.912	T	0.57195	-0.7853	10	0.87932	D	0	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	2145	Q5TBA9	FRY_HUMAN	D	2145;982	ENSP00000369600:V2145D	ENSP00000369600:V2145D	V	+	2	0	FRY	31711404	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.982000	0.88131	2.281000	0.76405	0.533000	0.62120	GTC		0.393	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		38	37	0	0	0	1	0	38	37				
OR10H1	26539	broad.mit.edu	37	19	15918704	15918704	+	Silent	SNP	G	G	A	rs142314142		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:15918704G>A	ENST00000334920.2	-	1	232	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGCTCCAGACGGTGGCCATGA	0.617													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21223	0.0		0.0	False		,,,				2504	0.0					ENST00000334920.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						c.(142-144)acC>acT		olfactory receptor, family 10, subfamily H, member 1		G		7,4399	11.4+/-27.6	0,7,2196	117.0	101.0	106.0		144	-3.8	0.2	19	dbSNP_134	106	0,8594		0,0,4297	no	coding-synonymous	OR10H1	NM_013940.2		0,7,6493	AA,AG,GG		0.0,0.1589,0.0538		48/319	15918704	7,12993	2203	4297	6500	SO:0001819	synonymous_variant	26539				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15918704G>A	AC004510	CCDS12335.1	19p13.1	2012-08-09				ENSG00000186723		"""GPCR / Class A : Olfactory receptors"""	8172	protein-coding gene	gene with protein product							Standard	NM_013940		Approved		uc002nbq.2	Q9Y4A9		ENST00000334920.2:c.144C>T	19.37:g.15918704G>A							p.T48T	NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN			1	232	-			48					Q6IFQ2|Q96R59	Silent	SNP	ENST00000334920.2	37	c.144C>T	CCDS12335.1																																																																																				0.617	OR10H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460364.1			49	101	0	0	0	1	0	49	101				
CCDC178	374864	broad.mit.edu	37	18	30791878	30791878	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:30791878T>A	ENST00000383096.3	-	20	2402	c.2220A>T	c.(2218-2220)aaA>aaT	p.K740N	CCDC178_ENST00000583930.1_Missense_Mutation_p.K740N|CCDC178_ENST00000579947.1_Missense_Mutation_p.K740N|CCDC178_ENST00000402325.1_Missense_Mutation_p.K740N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.K740N|CCDC178_ENST00000300227.8_Missense_Mutation_p.K702N|CCDC178_ENST00000406524.2_Missense_Mutation_p.K740N			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	740																	CTTGAAGAGTTTTTTGTCTTA	0.323																																						ENST00000383096.3																			0											c.(2218-2220)aaA>aaT		coiled-coil domain containing 178							102.0	96.0	98.0					18																	30791878		2203	4297	6500	SO:0001583	missense	374864							g.chr18:30791878T>A	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2220A>T	18.37:g.30791878T>A	ENSP00000372576:p.Lys740Asn					CCDC178_ENST00000403303.1_Missense_Mutation_p.K740N|CCDC178_ENST00000579947.1_Missense_Mutation_p.K740N|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.K740N|CCDC178_ENST00000402325.1_Missense_Mutation_p.K740N|CCDC178_ENST00000583930.1_Missense_Mutation_p.K740N|CCDC178_ENST00000300227.8_Missense_Mutation_p.K702N	p.K740N							20	2402	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.2220A>T	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	T	4.163	0.028723	0.08054	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.17528	2.31;2.31;2.33;2.27;2.38	3.97	-7.94	0.01152	.	.	.	.	.	T	0.05868	0.0153	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.10296	0.002;0.002;0.003;0.003;0.003	B;B;B;B;B	0.11329	0.006;0.006;0.006;0.006;0.006	T	0.36407	-0.9749	9	0.20046	T	0.44	-4.7243	0.521	0.00612	0.2696:0.272:0.2582:0.2002	.	740;740;740;702;740	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	N	740;740;702;740;740	ENSP00000385591:K740N;ENSP00000372576:K740N;ENSP00000300227:K702N;ENSP00000385867:K740N;ENSP00000385234:K740N	ENSP00000300227:K702N	K	-	3	2	C18orf34	29045876	0.072000	0.21174	0.029000	0.17559	0.003000	0.03518	-1.124000	0.03260	-1.570000	0.01665	-2.334000	0.00248	AAA		0.323	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		18	14	0	0	0	1	0	18	14				
OR5AS1	219447	broad.mit.edu	37	11	55798824	55798824	+	Silent	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:55798824T>C	ENST00000313555.1	+	1	930	c.930T>C	c.(928-930)taT>taC	p.Y310Y		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	310			Y -> C (in dbSNP:rs17600939).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GAATTGGATATTCAAATGAAT	0.279																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(928-930)taT>taC		olfactory receptor, family 5, subfamily AS, member 1							45.0	53.0	50.0					11																	55798824		2197	4292	6489	SO:0001819	synonymous_variant	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798824T>C	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.930T>C	11.37:g.55798824T>C							p.Y310Y	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	930	+	Esophageal squamous(21;0.00693)		310		Y -> C (in dbSNP:rs17600939).			Q6IFB8	Silent	SNP	ENST00000313555.1	37	c.930T>C	CCDS31516.1																																																																																				0.279	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		23	37	0	0	0	1	0	23	37				
SPOCD1	90853	broad.mit.edu	37	1	32265700	32265700	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:32265700C>T	ENST00000360482.2	-	5	1774	c.1645G>A	c.(1645-1647)Ggt>Agt	p.G549S	SPOCD1_ENST00000373648.2_Missense_Mutation_p.G490S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G42S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G549S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	549				G -> D (in Ref. 1; BAC04981). {ECO:0000305}.	negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		GAGAGGCCACCAGGGTCCCCT	0.622																																						ENST00000360482.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37						c.(1645-1647)Ggt>Agt		SPOC domain containing 1							30.0	32.0	31.0					1																	32265700		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32265700C>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.1645G>A	1.37:g.32265700C>T	ENSP00000353670:p.Gly549Ser					SPOCD1_ENST00000373648.2_Missense_Mutation_p.G490S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.G42S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G549S	p.G549S	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	5	1774	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	549	G -> D (in Ref. 1; BAC04981).				Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.1645G>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	c	16.90	3.251017	0.59212	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000373648;ENST00000533231;ENST00000528791	T;T;T;T	0.59906	0.23;1.46;0.75;1.65	3.23	3.23	0.37069	.	.	.	.	.	T	0.53722	0.1814	N	0.24115	0.695	0.09310	N	1	D;D	0.67145	0.996;0.993	D;P	0.63703	0.917;0.828	T	0.38478	-0.9659	9	0.06757	T	0.87	-0.337	10.2127	0.43150	0.0:1.0:0.0:0.0	.	549;549	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	S	42;549;490;549;42	ENSP00000257100:G42S;ENSP00000353670:G549S;ENSP00000362752:G490S;ENSP00000435851:G549S	ENSP00000257100:G42S	G	-	1	0	SPOCD1	32038287	0.000000	0.05858	0.049000	0.19019	0.012000	0.07955	-0.243000	0.08915	2.130000	0.65690	0.639000	0.83563	GGT		0.622	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		11	20	0	0	0	1	0	11	20				
GRM3	2913	broad.mit.edu	37	7	86479803	86479803	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:86479803C>A	ENST00000361669.2	+	5	3608	c.2509C>A	c.(2509-2511)Cac>Aac	p.H837N	GRM3_ENST00000394720.2_Missense_Mutation_p.T479K|GRM3_ENST00000536043.1_Missense_Mutation_p.H709N|GRM3_ENST00000439827.1_Missense_Mutation_p.T481K|GRM3_ENST00000546348.1_Missense_Mutation_p.H429N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	837					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGTTGTCACACACAGACTGCA	0.478																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2509-2511)Cac>Aac		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						200.0	153.0	169.0					7																	86479803		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86479803C>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2509C>A	7.37:g.86479803C>A	ENSP00000355316:p.His837Asn					GRM3_ENST00000394720.2_Missense_Mutation_p.T479K|GRM3_ENST00000439827.1_Missense_Mutation_p.T481K|GRM3_ENST00000536043.1_Missense_Mutation_p.H709N|GRM3_ENST00000546348.1_Missense_Mutation_p.H429N	p.H837N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			5	3608	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		837					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2509C>A	CCDS5600.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.070748|5.070748	0.93950|0.93950	.|.	.|.	ENSG00000198822|ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043|ENST00000439827;ENST00000394720	D;D;D|D;D	0.88586|0.88586	-2.4;-2.3;-2.16|-2.4;-2.4	6.08|6.08	6.08|6.08	0.98989|0.98989	GPCR, family 3, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82309|0.82309	0.5009|0.5009	L|L	0.27053|0.27053	0.805|0.805	0.40123|0.40123	D|D	0.976627|0.976627	B;D;P|B	0.55800|0.26809	0.049;0.973;0.908|0.16	B;P;P|B	0.58520|0.27715	0.01;0.84;0.624|0.082	T|T	0.77273|0.77273	-0.2649|-0.2649	10|9	0.49607|0.05833	T|T	0.09|0.94	.|.	19.6516|19.6516	0.95815|0.95815	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	429;709;837|481	B7Z204;F5GYZ2;Q14832|G5E9K2	.;.;GRM3_HUMAN|.	N|K	837;429;709|481;479	ENSP00000355316:H837N;ENSP00000444064:H429N;ENSP00000441407:H709N|ENSP00000398767:T481K;ENSP00000378209:T479K	ENSP00000355316:H837N|ENSP00000378209:T479K	H|T	+|+	1|2	0|0	GRM3|GRM3	86317739|86317739	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.616000|7.616000	0.83018|0.83018	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.478	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			15	63	1	0	0.000308642	1	0.000325121	15	63				
FAM47B	170062	broad.mit.edu	37	X	34962224	34962224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:34962224G>T	ENST00000329357.5	+	1	1312	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	426										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCTCTGCCCGGAGCCTACCAA	0.547																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1276-1278)Gag>Tag		family with sequence similarity 47, member B							69.0	63.0	65.0					X																	34962224		2202	4300	6502	SO:0001587	stop_gained	170062							g.chrX:34962224G>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1276G>T	X.37:g.34962224G>T	ENSP00000328307:p.Glu426*						p.E426*	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	1312	+			426					Q5JQN5|Q6PIG3	Nonsense_Mutation	SNP	ENST00000329357.5	37	c.1276G>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811747	0.50527	.	.	ENSG00000189132	ENST00000329357	.	.	.	0.955	0.955	0.19602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	4.9062	0.13799	0.0:0.0:1.0:0.0	.	.	.	.	X	426	.	ENSP00000328307:E426X	E	+	1	0	FAM47B	34872145	0.448000	0.25681	0.002000	0.10522	0.055000	0.15305	0.718000	0.25866	0.744000	0.32741	0.190000	0.17370	GAG		0.547	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		39	20	1	0	1.58521e-26	1	2.22967e-26	39	20				
COL4A3	1285	broad.mit.edu	37	2	228104886	228104886	+	Missense_Mutation	SNP	G	G	A	rs184730597		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:228104886G>A	ENST00000396578.3	+	3	334	c.172G>A	c.(172-174)Ggt>Agt	p.G58S	AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	58	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TGGACCCCCCGGTTCTCCTGG	0.522													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17858	0.0		0.0	False		,,,				2504	0.0					ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(172-174)Ggt>Agt		collagen, type IV, alpha 3 (Goodpasture antigen)							49.0	50.0	50.0					2																	228104886		1880	4115	5995	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228104886G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.172G>A	2.37:g.228104886G>A	ENSP00000379823:p.Gly58Ser					AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA	p.G58S	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	3	334	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	58			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.172G>A	CCDS42829.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	27.5	4.840683	0.91197	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.99329	-5.75	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000011	D	0.99579	0.9848	H	0.94886	3.595	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;1.0	D	0.98160	1.0446	10	0.72032	D	0.01	.	15.7708	0.78167	0.0:0.0:1.0:0.0	.	58;58;58;58	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	S	58	ENSP00000379823:G58S	ENSP00000323334:G58S	G	+	1	0	COL4A3	227813130	0.999000	0.42202	0.974000	0.42286	0.795000	0.44927	4.998000	0.63927	2.792000	0.96026	0.650000	0.86243	GGT		0.522	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		3	10	0	0	0	1	0	3	10				
YAF2	10138	broad.mit.edu	37	12	42554626	42554626	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:42554626G>C	ENST00000534854.2	-	4	375	c.308C>G	c.(307-309)cCa>cGa	p.P103R	YAF2_ENST00000380788.3_Missense_Mutation_p.P94R|YAF2_ENST00000327791.4_Missense_Mutation_p.P79R|YAF2_ENST00000380790.4_Missense_Mutation_p.P61R|YAF2_ENST00000442791.3_Missense_Mutation_p.P127R	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	103					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TTTCAATCTTGGCCTAAACAT	0.308																																						ENST00000327791.4																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8						c.(235-237)cCa>cGa		YY1 associated factor 2							37.0	37.0	37.0					12																	42554626		2202	4299	6501	SO:0001583	missense	10138				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:42554626G>C	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.308C>G	12.37:g.42554626G>C	ENSP00000439256:p.Pro103Arg					YAF2_ENST00000380788.3_Missense_Mutation_p.P94R|YAF2_ENST00000534854.2_Missense_Mutation_p.P103R|YAF2_ENST00000380790.4_Missense_Mutation_p.P61R|YAF2_ENST00000442791.3_Missense_Mutation_p.P127R	p.P79R			Q8IY57	YAF2_HUMAN		GBM - Glioblastoma multiforme(48;0.0514)	5	303	-	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)	103					A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	ENST00000534854.2	37	c.236C>G	CCDS31775.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404638	0.62288	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.996	T	0.77742	-0.2474	9	0.54805	T	0.06	.	19.2823	0.94057	0.0:0.0:1.0:0.0	.	61;94;79;103	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	R	79;127;103;61;94	.	ENSP00000328004:P79R	P	-	2	0	YAF2	40840893	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.414000	0.97362	2.550000	0.86006	0.655000	0.94253	CCA		0.308	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1			6	24	0	0	0	1	0	6	24				
DLG2	1740	broad.mit.edu	37	11	84027932	84027932	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:84027932G>C	ENST00000398301.2	-	1	450	c.257C>G	c.(256-258)aCc>aGc	p.T86S	DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.T86S			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTTGCCCTTGGTGCTCGTCTT	0.577																																						ENST00000280241.8																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(256-258)aCc>aGc		discs, large homolog 2 (Drosophila)							63.0	62.0	62.0					11																	84027932		876	1990	2866	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84027932G>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398301.2:c.257C>G	11.37:g.84027932G>C	ENSP00000381346:p.Thr86Ser					DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.T86S|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron	p.T86S	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN			1	256	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000398301.2	37	c.257C>G		.	.	.	.	.	.	.	.	.	.	G	5.275	0.236099	0.10023	.	.	ENSG00000150672	ENST00000280241;ENST00000398301	T;T	0.40225	1.04;1.04	5.86	4.95	0.65309	.	.	.	.	.	T	0.21631	0.0521	N	0.08118	0	0.80722	D	1	B	0.14012	0.009	B	0.13407	0.009	T	0.07673	-1.0760	8	.	.	.	.	10.111	0.42563	0.0724:0.137:0.7906:0.0	.	86	Q6ZSU2	.	S	86	ENSP00000280241:T86S;ENSP00000381346:T86S	.	T	-	2	0	DLG2	83705580	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	2.395000	0.44459	1.483000	0.48342	0.585000	0.79938	ACC		0.577	DLG2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000259244.2	NM_001364		28	47	0	0	0	1	0	28	47				
KCNE4	23704	broad.mit.edu	37	2	223917882	223917882	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:223917882G>C	ENST00000281830.3	+	2	818	c.487G>C	c.(487-489)Gcg>Ccg	p.A163P	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.A112P			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	163						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTGGCGCCCGCGCTGTCCTG	0.672																																						ENST00000281830.3																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)	10						c.(487-489)Gcg>Ccg		potassium voltage-gated channel, Isk-related family, member 4							46.0	46.0	46.0					2																	223917882		2203	4300	6503	SO:0001583	missense	23704					integral to membrane	voltage-gated potassium channel activity	g.chr2:223917882G>C	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.487G>C	2.37:g.223917882G>C	ENSP00000281830:p.Ala163Pro					KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Missense_Mutation_p.A112P	p.A163P			Q8WWG9	KCNE4_HUMAN		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	818	+		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)	112					B7Z275|Q53SM4|Q96CC4	Missense_Mutation	SNP	ENST00000281830.3	37	c.487G>C		.	.	.	.	.	.	.	.	.	.	G	13.24	2.179559	0.38511	.	.	ENSG00000152049	ENST00000281830	.	.	.	6.16	5.24	0.73138	.	0.120024	0.64402	D	0.000014	T	0.26484	0.0647	N	0.02539	-0.55	0.40768	D	0.983064	B	0.15473	0.013	B	0.15484	0.013	T	0.16928	-1.0386	9	0.19590	T	0.45	-7.5564	12.892	0.58076	0.0:0.1159:0.7509:0.1332	.	112	Q8WWG9	KCNE4_HUMAN	P	112	.	ENSP00000281830:A112P	A	+	1	0	KCNE4	223626126	1.000000	0.71417	0.972000	0.41901	1.000000	0.99986	3.571000	0.53841	2.937000	0.99478	0.650000	0.86243	GCG		0.672	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		16	61	0	0	0	1	0	16	61				
TMEM176A	55365	broad.mit.edu	37	7	150501523	150501523	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:150501523T>A	ENST00000484928.1	+	6	1210	c.629T>A	c.(628-630)cTg>cAg	p.L210Q	TMEM176A_ENST00000004103.3_Missense_Mutation_p.L210Q|TMEM176A_ENST00000461345.1_Missense_Mutation_p.L151Q			Q96HP8	T176A_HUMAN	transmembrane protein 176A	210					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGACCCCTCTGTGGCTGTAC	0.552																																						ENST00000484928.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12						c.(628-630)cTg>cAg		transmembrane protein 176A							151.0	138.0	142.0					7																	150501523		2203	4300	6503	SO:0001583	missense	55365					integral to membrane		g.chr7:150501523T>A	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.629T>A	7.37:g.150501523T>A	ENSP00000417626:p.Leu210Gln					TMEM176A_ENST00000004103.3_Missense_Mutation_p.L210Q|TMEM176A_ENST00000461345.1_Missense_Mutation_p.L151Q	p.L210Q			Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	6	1210	+			210					D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	c.629T>A	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475573	0.43942	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536	T;T;T;T	0.02737	4.18;4.18;4.18;4.18	4.79	4.79	0.61399	.	0.720818	0.12401	N	0.472158	T	0.12178	0.0296	M	0.64404	1.975	0.09310	N	1	D	0.89917	1.0	D	0.70487	0.969	T	0.09422	-1.0675	10	0.87932	D	0	-27.5403	11.0182	0.47703	0.0:0.0:0.0:1.0	.	210	Q96HP8	T176A_HUMAN	Q	210;210;151;162	ENSP00000417626:L210Q;ENSP00000004103:L210Q;ENSP00000420818:L151Q;ENSP00000417834:L162Q	ENSP00000004103:L210Q	L	+	2	0	TMEM176A	150132456	0.004000	0.15560	0.155000	0.22561	0.469000	0.32828	1.521000	0.35910	1.928000	0.55862	0.533000	0.62120	CTG		0.552	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		40	54	0	0	0	1	0	40	54				
KCNA6	3742	broad.mit.edu	37	12	4919539	4919539	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:4919539A>G	ENST00000280684.3	+	1	1198	c.332A>G	c.(331-333)aAc>aGc	p.N111S	RP11-234B24.4_ENST00000542988.1_lincRNA|KCNA6_ENST00000433855.1_Missense_Mutation_p.N111S			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	111					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	AGGCCGGTCAACGTGCCCCTG	0.662										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(331-333)aAc>aGc		potassium voltage-gated channel, shaker-related subfamily, member 6							46.0	52.0	50.0					12																	4919539		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919539A>G	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.332A>G	12.37:g.4919539A>G	ENSP00000280684:p.Asn111Ser	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.N111S	p.N111S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1198	+			111						Missense_Mutation	SNP	ENST00000280684.3	37	c.332A>G	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260182	0.59321	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	T;T	0.76448	-1.02;-1.02	4.45	4.45	0.53987	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.262091	0.40469	N	0.001097	T	0.73674	0.3617	L	0.47716	1.5	0.39727	D	0.971559	P	0.39480	0.675	B	0.41036	0.346	T	0.78409	-0.2215	10	0.66056	D	0.02	.	13.0549	0.58973	1.0:0.0:0.0:0.0	.	111	P17658	KCNA6_HUMAN	S	111	ENSP00000408321:N111S;ENSP00000280684:N111S	ENSP00000280684:N111S	N	+	2	0	KCNA6	4789800	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.235000	0.78143	1.858000	0.53909	0.379000	0.24179	AAC		0.662	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		38	90	0	0	0	1	0	38	90				
CLMN	79789	broad.mit.edu	37	14	95669349	95669349	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:95669349G>T	ENST00000298912.4	-	9	2450	c.2337C>A	c.(2335-2337)agC>agA	p.S779R		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	779					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AACTGGAGCTGCTCTGAGAGC	0.587																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(2335-2337)agC>agA		calmin (calponin-like, transmembrane)							40.0	40.0	40.0					14																	95669349		2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669349G>T	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2337C>A	14.37:g.95669349G>T	ENSP00000298912:p.Ser779Arg						p.S779R	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	2450	-			779					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.2337C>A	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440850	0.25900	.	.	ENSG00000165959	ENST00000298912	D	0.93307	-3.2	4.55	2.48	0.30137	.	0.424874	0.20322	N	0.094611	D	0.94948	0.8366	M	0.68952	2.095	0.20074	N	0.999931	D	0.76494	0.999	D	0.83275	0.996	D	0.87659	0.2533	10	0.72032	D	0.01	.	6.7617	0.23544	0.3217:0.0:0.6783:0.0	.	779	Q96JQ2	CLMN_HUMAN	R	779	ENSP00000298912:S779R	ENSP00000298912:S779R	S	-	3	2	CLMN	94739102	0.153000	0.22777	0.309000	0.25155	0.029000	0.11900	1.070000	0.30653	0.415000	0.25817	0.555000	0.69702	AGC		0.587	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			24	16	1	0	1.96895e-08	1	2.22153e-08	24	16				
SCN7A	6332	broad.mit.edu	37	2	167273409	167273409	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:167273409G>T	ENST00000409855.1	-	20	3348	c.3222C>A	c.(3220-3222)atC>atA	p.I1074I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1074					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CTACTCCCATGATACTAAAAA	0.398																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(3220-3222)atC>atA		sodium channel, voltage-gated, type VII, alpha subunit							71.0	63.0	66.0					2																	167273409		1886	4115	6001	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167273409G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.3222C>A	2.37:g.167273409G>T							p.I1074I	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			20	3348	-			1074						Silent	SNP	ENST00000409855.1	37	c.3222C>A	CCDS46442.1																																																																																				0.398	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			12	17	1	0	0.00185496	1	0.0019262	12	17				
NPTX2	4885	broad.mit.edu	37	7	98256641	98256641	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:98256641C>A	ENST00000265634.3	+	4	1218	c.1053C>A	c.(1051-1053)atC>atA	p.I351I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	351	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCGTGCTGATCCTTGGACAAG	0.672																																						ENST00000265634.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(1051-1053)atC>atA		neuronal pentraxin II							49.0	40.0	43.0					7																	98256641		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256641C>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1053C>A	7.37:g.98256641C>A							p.I351I	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1218	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		351			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.1053C>A	CCDS5657.1																																																																																				0.672	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		4	41	1	0	0.00909568	1	0.00923484	4	41				
PMEPA1	56937	broad.mit.edu	37	20	56234686	56234686	+	Silent	SNP	C	C	A	rs533284164	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:56234686C>A	ENST00000341744.3	-	2	496	c.177G>T	c.(175-177)acG>acT	p.T59T	PMEPA1_ENST00000395816.3_Silent_p.T9T|PMEPA1_ENST00000395814.1_Silent_p.T9T|PMEPA1_ENST00000347215.4_Silent_p.T24T|PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000265626.4_Silent_p.T9T	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	59					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)	p.T59T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TCAGCAGGCACGTGatcacca	0.582																																						ENST00000341744.3																			1	Substitution - coding silent(1)	p.T59T(1)	endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(175-177)acG>acT		prostate transmembrane protein, androgen induced 1							98.0	67.0	78.0					20																	56234686		2203	4300	6503	SO:0001819	synonymous_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56234686C>A	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.177G>T	20.37:g.56234686C>A						PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000395814.1_Silent_p.T9T|PMEPA1_ENST00000265626.4_Silent_p.T9T|PMEPA1_ENST00000347215.4_Silent_p.T24T|PMEPA1_ENST00000395816.3_Silent_p.T9T	p.T59T	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			2	496	-			59					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	ENST00000341744.3	37	c.177G>T	CCDS13463.1																																																																																				0.582	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		11	19	1	0	4.84862e-15	1	6.17712e-15	11	19				
MFNG	4242	broad.mit.edu	37	22	37882099	37882099	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:37882099G>T	ENST00000356998.3	-	1	340	c.117C>A	c.(115-117)ccC>ccA	p.P39P	MFNG_ENST00000416983.3_Silent_p.P39P	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	39					pattern specification process (GO:0007389)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)	extracellular space (GO:0005615)|integral component of Golgi membrane (GO:0030173)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					GGCTCAGCTCGGGGGTCCCTT	0.662																																						ENST00000356998.3																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(115-117)ccC>ccA		MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							29.0	34.0	32.0					22																	37882099		2203	4300	6503	SO:0001819	synonymous_variant	4242				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr22:37882099G>T	BC094814	CCDS13947.1, CCDS54525.1	22q13.1	2013-02-19	2006-11-13		ENSG00000100060	ENSG00000100060	2.4.1.222	"""Beta 3-glycosyltransferases"""	7038	protein-coding gene	gene with protein product		602577	"""manic fringe (Drosophila) homolog"", ""manic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_002405		Approved		uc003ass.2	O00587	OTTHUMG00000150560	ENST00000356998.3:c.117C>A	22.37:g.37882099G>T						MFNG_ENST00000416983.3_Silent_p.P39P	p.P39P	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN			1	340	-	Melanoma(58;0.0574)		39					B4DLT6|O43730|Q504S9	Silent	SNP	ENST00000356998.3	37	c.117C>A	CCDS13947.1																																																																																				0.662	MFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318902.1	NM_002405		19	25	1	0	1.96292e-10	1	2.30375e-10	19	25				
COPA	1314	broad.mit.edu	37	1	160276193	160276193	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:160276193G>A	ENST00000241704.7	-	15	1622	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	COPA_ENST00000368069.3_Silent_p.L465L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	465					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTCGAAGCAGGAGATTGCCT	0.488																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1393-1395)Ctg>Ttg		coatomer protein complex, subunit alpha							203.0	184.0	190.0					1																	160276193		2203	4300	6503	SO:0001819	synonymous_variant	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160276193G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1393C>T	1.37:g.160276193G>A						COPA_ENST00000368069.3_Silent_p.L465L	p.L465L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		15	1622	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		465					Q5T201|Q8IXZ9	Silent	SNP	ENST00000241704.7	37	c.1393C>T	CCDS1202.1																																																																																				0.488	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		38	126	0	0	0	1	0	38	126				
SULF1	23213	broad.mit.edu	37	8	70541742	70541742	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:70541742G>T	ENST00000260128.4	+	19	2829	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	SULF1_ENST00000419716.3_Missense_Mutation_p.E704D|SULF1_ENST00000458141.2_Missense_Mutation_p.E704D|SULF1_ENST00000402687.4_Missense_Mutation_p.E704D|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	704					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGAACAGGGAGGCTGCTCAGG	0.453																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2110-2112)gaG>gaT		sulfatase 1							64.0	60.0	62.0					8																	70541742		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70541742G>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2112G>T	8.37:g.70541742G>T	ENSP00000260128:p.Glu704Asp					SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.E704D|SULF1_ENST00000419716.3_Missense_Mutation_p.E704D|SULF1_ENST00000458141.2_Missense_Mutation_p.E704D	p.E704D	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		19	2829	+	Breast(64;0.0654)		704					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2112G>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548984	0.27652	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.55	0.317	0.15861	Alkaline-phosphatase-like, core domain (1);	0.333240	0.31601	N	0.007374	T	0.19805	0.0476	L	0.59436	1.845	0.37944	D	0.932435	D	0.52996	0.957	B	0.40982	0.345	T	0.07731	-1.0757	10	0.51188	T	0.08	.	4.7069	0.12855	0.5981:0.0:0.2357:0.1662	.	704	Q8IWU6	SULF1_HUMAN	D	704	ENSP00000403040:E704D;ENSP00000260128:E704D;ENSP00000385704:E704D;ENSP00000390315:E704D	ENSP00000260128:E704D	E	+	3	2	SULF1	70704296	1.000000	0.71417	0.958000	0.39756	0.005000	0.04900	1.506000	0.35747	-0.152000	0.11156	-0.890000	0.02929	GAG		0.453	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		12	43	1	0	1.5842e-08	1	1.79576e-08	12	43				
PROC	5624	broad.mit.edu	37	2	128186316	128186316	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:128186316C>A	ENST00000234071.3	+	9	1267	c.1180C>A	c.(1180-1182)Cgg>Agg	p.R394R	PROC_ENST00000422777.3_Silent_p.R394R|PROC_ENST00000453608.2_Silent_p.R449R|PROC_ENST00000409048.1_Silent_p.R428R	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	394	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> W (in patients with PROC deficiency).		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCTCGGGGACCGGCAGGATGC	0.637																																						ENST00000453608.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	GRCh37	CM941191	PROC	M		c.(1345-1347)Cgg>Agg		protein C (inactivator of coagulation factors Va and VIIIa)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						72.0	80.0	77.0					2																	128186316		2203	4300	6503	SO:0001819	synonymous_variant	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186316C>A	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1180C>A	2.37:g.128186316C>A						PROC_ENST00000422777.3_Silent_p.R394R|PROC_ENST00000234071.3_Silent_p.R394R|PROC_ENST00000409048.1_Silent_p.R428R	p.R449R			P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	8	1353	+	Colorectal(110;0.1)		394			Peptidase S1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Silent	SNP	ENST00000234071.3	37	c.1345C>A	CCDS2145.1																																																																																				0.637	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		64	127	1	0	1.20869e-33	1	1.75766e-33	64	127				
ATP9A	10079	broad.mit.edu	37	20	50244148	50244148	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:50244148C>T	ENST00000338821.5	-	17	2100	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q	ATP9A_ENST00000311637.5_Silent_p.Q476Q|ATP9A_ENST00000402822.1_Silent_p.Q491Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	612					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTCAAAGTCCTGATACTGCT	0.547																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1834-1836)caG>caA		ATPase, class II, type 9A							234.0	207.0	217.0					20																	50244148		2203	4300	6503	SO:0001819	synonymous_variant	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50244148C>T	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1836G>A	20.37:g.50244148C>T						ATP9A_ENST00000402822.1_Silent_p.Q491Q|ATP9A_ENST00000311637.5_Silent_p.Q476Q	p.Q612Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			17	2100	-			612					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Silent	SNP	ENST00000338821.5	37	c.1836G>A	CCDS33489.1																																																																																				0.547	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		149	249	0	0	0	1	0	149	249				
CFAP54	144535	broad.mit.edu	37	12	97133811	97133811	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:97133811C>T	ENST00000524981.4	+	51	7066	c.7043C>T	c.(7042-7044)aCa>aTa	p.T2348I				Q96N23	CL055_HUMAN		0																	CAGGATGACACAGAGAATCCT	0.323																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(2395-2397)aCa>aTa									58.0	60.0	59.0					12																	97133811		2203	4297	6500	SO:0001583	missense	144535							g.chr12:97133811C>T																												ENST00000524981.4:c.7043C>T	12.37:g.97133811C>T	ENSP00000431759:p.Thr2348Ile						p.T799I			Q6ZTY8	CL063_HUMAN			18	2396	+			773						Missense_Mutation	SNP	ENST00000524981.4	37	c.2396C>T		.	.	.	.	.	.	.	.	.	.	C	11.47	1.648976	0.29336	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	4.64	0.391	0.16282	.	1.261780	0.05328	N	0.527879	T	0.32526	0.0832	L	0.44542	1.39	0.09310	N	1	B	0.28636	0.218	B	0.21708	0.036	T	0.22836	-1.0205	9	0.45353	T	0.12	-0.8505	4.6212	0.12450	0.4525:0.3689:0.0:0.1786	.	773	Q6ZTY8	CL063_HUMAN	I	2348;773	.	ENSP00000345466:T773I	T	+	2	0	C12orf63	95657942	0.000000	0.05858	0.000000	0.03702	0.620000	0.37586	-0.251000	0.08818	-0.037000	0.13646	0.313000	0.20887	ACA		0.323	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			13	21	0	0	0	1	0	13	21				
FMN1	342184	broad.mit.edu	37	15	33218463	33218463	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:33218463C>A	ENST00000559047.1	-	7	3138		c.e7-1		FMN1_ENST00000561249.1_Splice_Site|FMN1_ENST00000334528.9_Splice_Site			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		ATTTGATGATCTAAAATTAGA	0.313																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.e6-1		formin 1							37.0	36.0	36.0					15																	33218463		1798	4052	5850	SO:0001630	splice_region_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33218463C>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3139-1G>T	15.37:g.33218463C>A						FMN1_ENST00000559047.1_Splice_Site|FMN1_ENST00000561249.1_Splice_Site		NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	6	2469	-		all_lung(180;1.14e-07)						Q3B7I6|Q3ZAR4|Q6ZSY1	Splice_Site	SNP	ENST00000559047.1	37			.	.	.	.	.	.	.	.	.	.	C	15.19	2.758867	0.49468	.	.	ENSG00000248905	ENST00000334528	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FMN1	31005755	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	6.962000	0.76048	2.826000	0.97356	0.655000	0.94253	.		0.313	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	Intron	5	12	1	0	8.12818e-05	1	8.63694e-05	5	12				
SPTSSB	165679	broad.mit.edu	37	3	161064099	161064099	+	Missense_Mutation	SNP	G	G	C	rs144350794		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:161064099G>C	ENST00000359175.4	-	3	1583	c.13C>G	c.(13-15)Cgt>Ggt	p.R5G	SPTSSB_ENST00000497137.1_Missense_Mutation_p.R5G	NM_001040100.1	NP_001035189.1	Q8NFR3	SPTSB_HUMAN	serine palmitoyltransferase, small subunit B	5					sphingolipid biosynthetic process (GO:0030148)	integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)											TCCTTCACACGCCTCAAATCC	0.408																																						ENST00000359175.4																			0											c.(13-15)Cgt>Ggt		serine palmitoyltransferase, small subunit B							71.0	70.0	70.0					3																	161064099		2203	4300	6503	SO:0001583	missense	165679				sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding	g.chr3:161064099G>C	AF458592	CCDS33887.1	3q26.1	2011-07-26	2011-07-26	2011-07-26	ENSG00000196542	ENSG00000196542			24045	protein-coding gene	gene with protein product	"""androgen down regulated in mouse prostate"", ""small subunit of serine palmitoyltransferase B"""	610412	"""chromosome 3 open reading frame 57"""	C3orf57		15777716, 19416851	Standard	NM_001040100		Approved	ADMP, ssSPTb	uc003fee.3	Q8NFR3	OTTHUMG00000159073	ENST00000359175.4:c.13C>G	3.37:g.161064099G>C	ENSP00000352097:p.Arg5Gly					SPTSSB_ENST00000497137.1_Missense_Mutation_p.R5G	p.R5G	NM_001040100.1	NP_001035189.1	Q8NFR3	SSPTB_HUMAN			3	1583	-			5					B2R5D3|D3DNM8|Q0P5S6	Missense_Mutation	SNP	ENST00000359175.4	37	c.13C>G	CCDS33887.1	.	.	.	.	.	.	.	.	.	.	G	4.093	0.015335	0.07959	.	.	ENSG00000196542	ENST00000359175;ENST00000497137	.	.	.	6.17	3.07	0.35406	.	0.413436	0.28448	N	0.015317	T	0.28764	0.0713	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.15037	-1.0451	8	0.35671	T	0.21	-0.6183	9.6618	0.39960	0.072:0.0:0.5927:0.3353	.	5	Q8NFR3	SPTSB_HUMAN	G	5	.	ENSP00000352097:R5G	R	-	1	0	SPTSSB	162546793	0.332000	0.24722	0.082000	0.20525	0.159000	0.22180	1.297000	0.33400	1.615000	0.50252	0.655000	0.94253	CGT		0.408	SPTSSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353181.1	NM_145035		35	30	0	0	0	1	0	35	30				
RNASEL	6041	broad.mit.edu	37	1	182555531	182555531	+	Silent	SNP	C	C	T	rs542521353		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:182555531C>T	ENST00000367559.3	-	2	664	c.411G>A	c.(409-411)aaG>aaA	p.K137K	RNASEL_ENST00000444138.1_Silent_p.K137K|RNASEL_ENST00000539397.1_Silent_p.K137K	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	137					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GGGCTTTGACCTTACCATACA	0.458																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(409-411)aaG>aaA		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							58.0	53.0	54.0					1																	182555531		2203	4300	6503	SO:0001819	synonymous_variant	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182555531C>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.411G>A	1.37:g.182555531C>T						RNASEL_ENST00000539397.1_Silent_p.K137K|RNASEL_ENST00000444138.1_Silent_p.K137K	p.K137K	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			2	664	-			137					Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.411G>A	CCDS1347.1																																																																																				0.458	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		34	22	0	0	0	1	0	34	22				
MOCS1	4337	broad.mit.edu	37	6	39893453	39893453	+	Silent	SNP	C	C	T	rs547995191		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:39893453C>T	ENST00000340692.5	-	3	390	c.387G>A	c.(385-387)ccG>ccA	p.P129P	MOCS1_ENST00000373175.4_Silent_p.P100P|MOCS1_ENST00000432280.2_Silent_p.P100P|MOCS1_ENST00000308559.7_Silent_p.P129P|MOCS1_ENST00000425303.2_Silent_p.P129P|MOCS1_ENST00000373195.3_Silent_p.P42P|MOCS1_ENST00000373186.4_Silent_p.P129P|MOCS1_ENST00000373188.2_Silent_p.P129P			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	129	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCCGGATAAGCGGCTCTCCAC	0.607													c|||	1	0.000199681	0.0008	0.0	5008	,	,		18411	0.0		0.0	False		,,,				2504	0.0				NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(385-387)ccG>ccA		molybdenum cofactor synthesis 1							61.0	54.0	57.0					6																	39893453		2203	4293	6496	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39893453C>T	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.387G>A	6.37:g.39893453C>T						MOCS1_ENST00000308559.7_Silent_p.P129P|MOCS1_ENST00000432280.2_Silent_p.P100P|MOCS1_ENST00000373175.4_Silent_p.P100P|MOCS1_ENST00000373195.3_Silent_p.P42P|MOCS1_ENST00000340692.5_Silent_p.P129P|MOCS1_ENST00000373188.2_Silent_p.P129P|MOCS1_ENST00000425303.2_Silent_p.P129P	p.P129P	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN			2	524	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		129			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.387G>A																																																																																					0.607	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		11	32	0	0	0	1	0	11	32				
TRBV7-4	28594	broad.mit.edu	37	7	142176768	142176768	+	RNA	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:142176768C>A	ENST00000390369.2	-	0	22									T cell receptor beta variable 7-4 (gene/pseudogene)																		CAGGACCACCCAGCAGAGGAG	0.537																																						ENST00000390369.2																			0																				92.0	94.0	94.0					7																	142176768		1934	4128	6062			28594							g.chr7:142176768C>A	L36092		7q34	2012-02-07	2008-09-12		ENSG00000253409	ENSG00000253409		"""T cell receptors / TRB locus"""	12238	other	T cell receptor gene			"""T cell receptor beta variable 7-4"""			8650574	Standard	NG_001333		Approved	TRBV74, TCRBV6S8A2T, TCRBV7S4			OTTHUMG00000158508		7.37:g.142176768C>A														0	22	-									RNA	SNP	ENST00000390369.2	37																																																																																						0.537	TRBV7-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351214.2	NG_001333		20	58	1	0	9.95505e-16	1	1.28169e-15	20	58				
MMRN1	22915	broad.mit.edu	37	4	90848950	90848950	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:90848950G>A	ENST00000394980.1	+	6	1279	c.960G>A	c.(958-960)gtG>gtA	p.V320V	MMRN1_ENST00000394981.1_Silent_p.V286V|MMRN1_ENST00000508372.1_Silent_p.V62V|MMRN1_ENST00000264790.2_Silent_p.V320V			Q13201	MMRN1_HUMAN	multimerin 1	320					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGCAGAAGTGATGCAAAAAA	0.338																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(958-960)gtG>gtA		multimerin 1							87.0	94.0	92.0					4																	90848950		2203	4299	6502	SO:0001819	synonymous_variant	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90848950G>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.960G>A	4.37:g.90848950G>A						MMRN1_ENST00000264790.2_Silent_p.V320V|MMRN1_ENST00000394981.1_Silent_p.V286V|MMRN1_ENST00000508372.1_Silent_p.V62V	p.V320V			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	1279	+		Hepatocellular(203;0.114)	320					Q4W5L1|Q6P3T8|Q6ZUL9	Silent	SNP	ENST00000394980.1	37	c.960G>A	CCDS3635.1																																																																																				0.338	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		36	66	0	0	0	1	0	36	66				
MUC17	140453	broad.mit.edu	37	7	100696663	100696663	+	Missense_Mutation	SNP	G	G	A	rs139724548		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:100696663G>A	ENST00000306151.4	+	11	13373	c.13309G>A	c.(13309-13311)Gac>Aac	p.D4437N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4437					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAAGAAGAGGACAGTGGACC	0.463																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(13309-13311)Gac>Aac		mucin 17, cell surface associated							102.0	98.0	99.0					7																	100696663		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100696663G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.13309G>A	7.37:g.100696663G>A	ENSP00000302716:p.Asp4437Asn						p.D4437N	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			11	13373	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4437					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.13309G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	8.223	0.802881	0.16397	.	.	ENSG00000169876	ENST00000306151	T	0.01947	4.54	5.49	0.654	0.17833	.	.	.	.	.	T	0.02012	0.0063	L	0.40543	1.245	0.09310	N	1	B	0.25169	0.119	B	0.14023	0.01	T	0.48502	-0.9030	9	0.11794	T	0.64	.	8.7334	0.34514	0.353:0.0:0.647:0.0	.	4437	Q685J3	MUC17_HUMAN	N	4437	ENSP00000302716:D4437N	ENSP00000302716:D4437N	D	+	1	0	MUC17	100483383	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-0.043000	0.12043	0.044000	0.15775	-0.904000	0.02843	GAC		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		15	35	0	0	0	1	0	15	35				
PIGO	84720	broad.mit.edu	37	9	35093918	35093918	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:35093918G>C	ENST00000378617.3	-	4	1153	c.759C>G	c.(757-759)agC>agG	p.S253R	PIGO_ENST00000361778.2_Missense_Mutation_p.S253R|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000341666.3_Missense_Mutation_p.S253R|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000298004.5_Missense_Mutation_p.S253R	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	253					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGTCCATCTGGCTAAGTTTCT	0.527																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(757-759)agC>agG		phosphatidylinositol glycan anchor biosynthesis, class O							127.0	125.0	126.0					9																	35093918		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35093918G>C	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.759C>G	9.37:g.35093918G>C	ENSP00000367880:p.Ser253Arg					PIGO_ENST00000361778.2_Missense_Mutation_p.S253R|PIGO_ENST00000341666.3_Missense_Mutation_p.S253R|PIGO_ENST00000298004.5_Missense_Mutation_p.S253R	p.S253R	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		4	1153	-			253					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.759C>G	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897173	0.33535	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.84	4.02	0.46733	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.250987	0.45867	D	0.000328	T	0.43500	0.1250	N	0.02802	-0.49	0.44323	D	0.997204	P;B	0.42203	0.773;0.002	B;B	0.43274	0.414;0.017	T	0.29640	-1.0005	10	0.12766	T	0.61	-32.3572	6.5302	0.22322	0.2017:0.0:0.6714:0.1269	.	253;253	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	R	253	ENSP00000298004:S253R;ENSP00000367880:S253R;ENSP00000339382:S253R;ENSP00000354678:S253R	ENSP00000298004:S253R	S	-	3	2	PIGO	35083918	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	0.334000	0.19787	0.843000	0.35070	0.655000	0.94253	AGC		0.527	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		42	39	0	0	0	1	0	42	39				
TBCK	93627	broad.mit.edu	37	4	107154148	107154148	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:107154148C>T	ENST00000273980.5	-	18	2033	c.1586G>A	c.(1585-1587)aGg>aAg	p.R529K	TBCK_ENST00000394706.3_Missense_Mutation_p.R490K|TBCK_ENST00000361687.4_Missense_Mutation_p.R466K|TBCK_ENST00000432496.2_Missense_Mutation_p.R529K|TBCK_ENST00000394708.2_Missense_Mutation_p.R529K					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TAATACACGCCTAAATTTTGC	0.368																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1585-1587)aGg>aAg		TBC1 domain containing kinase							134.0	130.0	131.0					4																	107154148		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107154148C>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1586G>A	4.37:g.107154148C>T	ENSP00000273980:p.Arg529Lys					TBCK_ENST00000432496.2_Missense_Mutation_p.R529K|TBCK_ENST00000394708.2_Missense_Mutation_p.R529K|TBCK_ENST00000394706.3_Missense_Mutation_p.R490K|TBCK_ENST00000361687.4_Missense_Mutation_p.R466K	p.R529K			Q8TEA7	TBCK_HUMAN			18	2033	-			529			Rab-GAP TBC.			Missense_Mutation	SNP	ENST00000273980.5	37	c.1586G>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479339	0.26511	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74	5.46	5.46	0.80206	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.05823	0.0152	N	0.01431	-0.87	0.58432	D	0.999995	B;B;B	0.20550	0.015;0.046;0.013	B;B;B	0.20955	0.016;0.027;0.032	T	0.34229	-0.9837	10	0.07325	T	0.83	.	19.3032	0.94151	0.0:1.0:0.0:0.0	.	529;490;466	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	K	529;529;466;490;529	ENSP00000273980:R529K;ENSP00000405847:R529K;ENSP00000355338:R466K;ENSP00000378196:R490K;ENSP00000378198:R529K	ENSP00000273980:R529K	R	-	2	0	TBCK	107373597	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	5.936000	0.70153	2.563000	0.86464	0.655000	0.94253	AGG		0.368	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		37	61	0	0	0	1	0	37	61				
STX4	6810	broad.mit.edu	37	16	31051077	31051077	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:31051077A>G	ENST00000313843.3	+	10	1162	c.847A>G	c.(847-849)Acc>Gcc	p.T283A	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000394998.1_Missense_Mutation_p.T281A	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	283	Interaction with CENPF. {ECO:0000250}.				blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TGTGTCCATCACCGTCGTCCT	0.602																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.(841-843)Acc>Gcc		syntaxin 4							326.0	245.0	272.0					16																	31051077		2197	4300	6497	SO:0001583	missense	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31051077A>G	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.847A>G	16.37:g.31051077A>G	ENSP00000317714:p.Thr283Ala					STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.T283A	p.T281A	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			11	1184	+			283			Interaction with CENPF (By similarity).		A8MXY0|Q15525|Q6FHE8	Missense_Mutation	SNP	ENST00000313843.3	37	c.841A>G	CCDS10700.1	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519412	0.27211	.	.	ENSG00000103496	ENST00000394998;ENST00000313843	T;T	0.33654	1.4;1.57	6.08	3.49	0.39957	.	0.540984	0.19663	N	0.108922	T	0.11281	0.0275	N	0.01048	-1.04	0.24115	N	0.99583	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11446	-1.0587	10	0.51188	T	0.08	-6.487	3.9886	0.09527	0.6601:0.1332:0.078:0.1287	.	283;281	Q12846;A8MXY0	STX4_HUMAN;.	A	281;283	ENSP00000378447:T281A;ENSP00000317714:T283A	ENSP00000317714:T283A	T	+	1	0	STX4	30958578	0.997000	0.39634	0.956000	0.39512	0.386000	0.30323	2.185000	0.42584	1.089000	0.41292	0.533000	0.62120	ACC		0.602	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604		99	160	0	0	0	1	0	99	160				
KLK13	26085	broad.mit.edu	37	19	51563204	51563204	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:51563204T>C	ENST00000595793.1	-	3	428	c.386A>G	c.(385-387)gAg>gGg	p.E129G	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.E129G|KLK13_ENST00000595547.1_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	129	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGACTGCAGCTCCAGAAGCAT	0.607																																						ENST00000595793.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16						c.(385-387)gAg>gGg		kallikrein-related peptidase 13							113.0	103.0	106.0					19																	51563204		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51563204T>C		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.386A>G	19.37:g.51563204T>C	ENSP00000470555:p.Glu129Gly					KLK13_ENST00000595547.1_Intron|KLK13_ENST00000596955.1_Missense_Mutation_p.E129G|KLK13_ENST00000335422.3_Intron	p.E129G	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	3	428	-		all_neural(266;0.026)	129			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.386A>G	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	T	12.67	2.008882	0.35415	.	.	ENSG00000167759	ENST00000156476	.	.	.	3.91	3.91	0.45181	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.291885	0.24571	N	0.037387	T	0.57533	0.2060	M	0.64260	1.97	0.80722	D	1	P;P	0.37141	0.584;0.584	B;B	0.41135	0.348;0.348	T	0.63967	-0.6517	9	0.87932	D	0	.	11.0484	0.47872	0.0:0.0:0.0:1.0	.	129;129	B5BUM9;Q9UKR3	.;KLK13_HUMAN	G	129	.	ENSP00000156476:E129G	E	-	2	0	KLK13	56255016	1.000000	0.71417	0.985000	0.45067	0.196000	0.23810	2.780000	0.47742	1.780000	0.52325	0.529000	0.55759	GAG		0.607	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		13	78	0	0	0	1	0	13	78				
OCA2	4948	broad.mit.edu	37	15	28326816	28326816	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:28326816C>A	ENST00000354638.3	-	2	360	c.205G>T	c.(205-207)Gct>Tct	p.A69S	OCA2_ENST00000382996.2_Missense_Mutation_p.A69S|OCA2_ENST00000353809.5_Missense_Mutation_p.A69S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	69					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGAATGAAGCAAACTCCTGG	0.582									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(205-207)Gct>Tct		oculocutaneous albinism II							50.0	45.0	47.0					15																	28326816		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28326816C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.205G>T	15.37:g.28326816C>A	ENSP00000346659:p.Ala69Ser					OCA2_ENST00000353809.5_Missense_Mutation_p.A69S|OCA2_ENST00000382996.2_Missense_Mutation_p.A69S	p.A69S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	2	360	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	69					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.205G>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	6.867	0.529386	0.13127	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996;ENST00000445578;ENST00000431101	D;D;D;D;D	0.93307	-2.67;-2.69;-2.65;-3.2;-2.06	3.14	1.24	0.21308	.	0.665592	0.14474	N	0.317398	D	0.82595	0.5071	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.01;0.003	B;B	0.15484	0.013;0.006	T	0.67209	-0.5728	10	0.12766	T	0.61	-0.287	5.5465	0.17067	0.0:0.7403:0.0:0.2597	.	69;69	Q04671-2;Q04671	.;P_HUMAN	S	69	ENSP00000346659:A69S;ENSP00000261276:A69S;ENSP00000372457:A69S;ENSP00000414425:A69S;ENSP00000415431:A69S	ENSP00000261276:A69S	A	-	1	0	OCA2	26000411	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.266000	0.18534	0.368000	0.24481	0.591000	0.81541	GCT		0.582	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		12	6	1	0	7.03913e-09	1	8.029e-09	12	6				
MAGEC3	139081	broad.mit.edu	37	X	140984864	140984864	+	Silent	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:140984864T>C	ENST00000298296.1	+	7	1320	c.1320T>C	c.(1318-1320)gcT>gcC	p.A440A	MAGEC3_ENST00000536088.1_Silent_p.A142A|MAGEC3_ENST00000544766.1_Silent_p.A142A|MAGEC3_ENST00000443323.2_Silent_p.A62A|MAGEC3_ENST00000409007.1_Silent_p.A142A|MAGEC3_ENST00000483584.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	440										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATACAGCTACTTGGCATG	0.517																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1318-1320)gcT>gcC		melanoma antigen family C, 3							54.0	48.0	50.0					X																	140984864		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140984864T>C	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1320T>C	X.37:g.140984864T>C						MAGEC3_ENST00000443323.2_Silent_p.A62A|MAGEC3_ENST00000536088.1_Silent_p.A142A|MAGEC3_ENST00000409007.1_Silent_p.A142A|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000544766.1_Silent_p.A142A	p.A440A	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			7	1320	+	Acute lymphoblastic leukemia(192;6.56e-05)		440					Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1320T>C	CCDS14676.1																																																																																				0.517	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		20	18	0	0	0	1	0	20	18				
CAPN9	10753	broad.mit.edu	37	1	230903329	230903329	+	Missense_Mutation	SNP	C	C	G	rs372361365		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:230903329C>G	ENST00000271971.2	+	5	692	c.579C>G	c.(577-579)atC>atG	p.I193M	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.I130M|CAPN9_ENST00000354537.1_Missense_Mutation_p.I193M	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	193	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GCAGCGCCATCGAGGCCATGG	0.557																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(577-579)atC>atG		calpain 9							79.0	81.0	80.0					1																	230903329		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230903329C>G	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.579C>G	1.37:g.230903329C>G	ENSP00000271971:p.Ile193Met					RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.I130M|CAPN9_ENST00000271971.2_Missense_Mutation_p.I193M	p.I193M	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			5	661	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	193			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.579C>G	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	C	9.760	1.169922	0.21621	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.88124	-2.34;-2.34;-2.34	5.32	-10.6	0.00265	Peptidase C2, calpain, catalytic domain (3);	0.293770	0.41194	N	0.000932	T	0.71048	0.3294	L	0.42529	1.33	0.32229	N	0.574225	B;B;B	0.27117	0.168;0.02;0.008	B;B;B	0.23419	0.046;0.032;0.029	T	0.52260	-0.8599	10	0.40728	T	0.16	.	3.2065	0.06667	0.1254:0.1745:0.1933:0.5068	.	130;193;193	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	M	193;193;130	ENSP00000271971:I193M;ENSP00000346538:I193M;ENSP00000355626:I130M	ENSP00000271971:I193M	I	+	3	3	CAPN9	228969952	0.000000	0.05858	0.124000	0.21820	0.886000	0.51366	-2.594000	0.00896	-2.414000	0.00569	-1.083000	0.02208	ATC		0.557	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		20	113	0	0	0	1	0	20	113				
PPP1R9A	55607	broad.mit.edu	37	7	94540062	94540062	+	Missense_Mutation	SNP	G	G	A	rs141443113		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:94540062G>A	ENST00000433881.1	+	2	1169	c.637G>A	c.(637-639)Gat>Aat	p.D213N	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D213N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D213N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D213N|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.D213N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D213N			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	213					actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TGAGAACACTGATTCTCCCAG	0.453										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(637-639)Gat>Aat		protein phosphatase 1, regulatory subunit 9A							85.0	78.0	80.0					7																	94540062		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94540062G>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.637G>A	7.37:g.94540062G>A	ENSP00000398870:p.Asp213Asn	HNSCC(28;0.073)				PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D213N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D213N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D213N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D213N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D213N	p.D213N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	853	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		213					A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.637G>A	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888114	0.52014	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	D;D;D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35;-3.35;-3.35	5.52	5.52	0.82312	.	0.105908	0.64402	D	0.000007	D	0.95130	0.8422	M	0.72894	2.215	0.48135	D	0.999591	P;P;D;P;P	0.57257	0.457;0.947;0.979;0.457;0.457	B;P;P;B;B	0.52957	0.227;0.714;0.714;0.227;0.149	D	0.94338	0.7568	9	.	.	.	.	19.807	0.96535	0.0:0.0:1.0:0.0	.	213;213;213;213;213	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	N	213	ENSP00000405514:D213N;ENSP00000344524:D213N;ENSP00000411342:D213N;ENSP00000398870:D213N;ENSP00000289495:D213N;ENSP00000402893:D213N	.	D	+	1	0	PPP1R9A	94377998	1.000000	0.71417	0.273000	0.24645	0.002000	0.02628	9.229000	0.95273	2.751000	0.94390	0.591000	0.81541	GAT		0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		19	21	0	0	0	1	0	19	21				
SELE	6401	broad.mit.edu	37	1	169696638	169696638	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:169696638C>A	ENST00000333360.7	-	10	1636	c.1497G>T	c.(1495-1497)ccG>ccT	p.P499P	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Silent_p.P373P|SELE_ENST00000367776.1_Silent_p.P436P|SELE_ENST00000367781.4_Silent_p.P436P|SELE_ENST00000367782.4_Silent_p.P436P|SELE_ENST00000367779.4_Silent_p.P373P|SELE_ENST00000367775.1_Silent_p.P374P|SELE_ENST00000367777.1_Silent_p.P436P|SELE_ENST00000367780.4_Silent_p.P374P	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	499	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TGATCTTTCCCGGAACTGCCA	0.483																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1495-1497)ccG>ccT		selectin E							77.0	74.0	75.0					1																	169696638		2203	4300	6503	SO:0001819	synonymous_variant	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169696638C>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1497G>T	1.37:g.169696638C>A						SELE_ENST00000367780.4_Silent_p.P374P|SELE_ENST00000367774.1_Silent_p.P373P|SELE_ENST00000367776.1_Silent_p.P436P|SELE_ENST00000367777.1_Silent_p.P436P|SELE_ENST00000367782.4_Silent_p.P436P|SELE_ENST00000367781.4_Silent_p.P436P|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Silent_p.P373P|SELE_ENST00000367775.1_Silent_p.P374P	p.P499P	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			10	1636	-	all_hematologic(923;0.208)		499			Sushi 6.		A2RRD6|P16111	Silent	SNP	ENST00000333360.7	37	c.1497G>T	CCDS1283.1																																																																																				0.483	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		13	65	1	0	4.3838e-07	1	4.87089e-07	13	65				
HIST1H2BB	3018	broad.mit.edu	37	6	26043824	26043824	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:26043824T>A	ENST00000357905.2	-	1	61	c.62A>T	c.(61-63)aAg>aTg	p.K21M	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	21					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTTCTGCGCCTTAGTGATAGC	0.483																																						ENST00000357905.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(61-63)aAg>aTg		histone cluster 1, H2bb							127.0	122.0	124.0					6																	26043824		2203	4300	6503	SO:0001583	missense	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043824T>A	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.62A>T	6.37:g.26043824T>A	ENSP00000350580:p.Lys21Met						p.K21M	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN			1	61	-			21					Q4KN36	Missense_Mutation	SNP	ENST00000357905.2	37	c.62A>T	CCDS4575.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.451199	0.43531	.	.	ENSG00000196226	ENST00000357905	T	0.25912	1.77	5.34	5.34	0.76211	Histone-fold (2);	0.000000	0.64402	U	0.000012	T	0.24774	0.0601	M	0.90252	3.1	0.49130	D	0.999759	P	0.43431	0.807	B	0.34824	0.19	T	0.42361	-0.9456	10	0.87932	D	0	.	14.7798	0.69756	0.0:0.0:0.0:1.0	.	21	P33778	H2B1B_HUMAN	M	21	ENSP00000350580:K21M	ENSP00000350580:K21M	K	-	2	0	HIST1H2BB	26151803	1.000000	0.71417	0.143000	0.22291	0.004000	0.04260	7.976000	0.88070	2.126000	0.65437	0.533000	0.62120	AAG		0.483	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		71	117	0	0	0	1	0	71	117				
WIPF1	7456	broad.mit.edu	37	2	175427287	175427287	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:175427287G>A	ENST00000392547.2	-	8	1599	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Silent_p.P500P|WIPF1_ENST00000272746.5_Silent_p.P500P|WIPF1_ENST00000392546.2_Silent_p.P500P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	500					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ACCTCGGGATGGGAGGGAGTG	0.478																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(1498-1500)ccC>ccT		WAS/WASL interacting protein family, member 1							116.0	107.0	110.0					2																	175427287		2203	4300	6503	SO:0001819	synonymous_variant	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175427287G>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1500C>T	2.37:g.175427287G>A						WIPF1_ENST00000272746.5_Silent_p.P500P|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Silent_p.P500P|WIPF1_ENST00000392546.2_Silent_p.P500P	p.P500P	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			8	1599	-			500					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Silent	SNP	ENST00000392547.2	37	c.1500C>T	CCDS2260.1																																																																																				0.478	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		9	13	0	0	0	1	0	9	13				
KRTAP4-2	85291	broad.mit.edu	37	17	39334273	39334273	+	Silent	SNP	C	C	G	rs201015994	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:39334273C>G	ENST00000377726.2	-	1	187	c.144G>C	c.(142-144)ccG>ccC	p.P48P		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	48	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)		p.P165P(1)|p.P48P(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGCAGCACTGCGGTCTGCAGC	0.672													C|||	7	0.00139776	0.0045	0.0	5008	,	,		16922	0.0		0.001	False		,,,				2504	0.0					ENST00000377726.2																			2	Substitution - coding silent(2)	p.P165P(1)|p.P48P(1)	kidney(2)	kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(142-144)ccG>ccC		keratin associated protein 4-2							35.0	42.0	40.0					17																	39334273		2202	4290	6492	SO:0001819	synonymous_variant	85291					keratin filament		g.chr17:39334273C>G	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.144G>C	17.37:g.39334273C>G							p.P48P	NM_033062.3	NP_149051.1	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	187	-		Breast(137;0.000496)	48			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Silent	SNP	ENST00000377726.2	37	c.144G>C	CCDS11384.1																																																																																				0.672	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			31	97	0	0	0	1	0	31	97				
ZSCAN5B	342933	broad.mit.edu	37	19	56701420	56701420	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:56701420G>T	ENST00000586855.2	-	5	1577	c.1264C>A	c.(1264-1266)Cac>Aac	p.H422N	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.H422N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	422					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTGGACTCGTGGGCGAACCGC	0.562																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1264-1266)Cac>Aac		zinc finger and SCAN domain containing 5B							87.0	89.0	88.0					19																	56701420		2144	4265	6409	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701420G>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1264C>A	19.37:g.56701420G>T	ENSP00000466072:p.His422Asn					ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.H422N	p.H422N			A6NJL1	ZSA5B_HUMAN			5	1577	-			422						Missense_Mutation	SNP	ENST00000586855.2	37	c.1264C>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.830236	0.50845	.	.	ENSG00000197213	ENST00000358992	T	0.07444	3.19	3.15	3.15	0.36227	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06280	0.0162	L	0.31926	0.97	0.29375	N	0.863746	B	0.33777	0.425	B	0.31495	0.131	T	0.15607	-1.0431	9	0.33940	T	0.23	.	6.3629	0.21439	0.141:0.0:0.859:0.0	.	422	A6NJL1	ZSA5B_HUMAN	N	422	ENSP00000351883:H422N	ENSP00000351883:H422N	H	-	1	0	ZSCAN5B	61393232	0.000000	0.05858	0.433000	0.26760	0.178000	0.23041	-0.424000	0.07025	1.777000	0.52277	0.306000	0.20318	CAC		0.562	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		30	40	1	0	1.08312e-15	1	1.38715e-15	30	40				
TMEM2	23670	broad.mit.edu	37	9	74324291	74324291	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:74324291C>A	ENST00000377044.4	-	17	3408	c.2869G>T	c.(2869-2871)Gtg>Ttg	p.V957L	TMEM2_ENST00000377066.5_Missense_Mutation_p.V894L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	957					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		TATCCTGTCACAGAGCCATCA	0.448																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(2869-2871)Gtg>Ttg		transmembrane protein 2							234.0	197.0	210.0					9																	74324291		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74324291C>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2869G>T	9.37:g.74324291C>A	ENSP00000366243:p.Val957Leu					TMEM2_ENST00000377066.5_Missense_Mutation_p.V894L	p.V957L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	17	3408	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	957					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2869G>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403263	0.83230	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000377043	T;T;T	0.80033	-1.33;-1.33;0.76	5.67	5.67	0.87782	Pectin lyase fold/virulence factor (1);	0.055865	0.64402	D	0.000001	T	0.80633	0.4660	L	0.52905	1.665	0.80722	D	1	B;P	0.34629	0.303;0.46	B;B	0.38683	0.222;0.279	T	0.77233	-0.2663	10	0.31617	T	0.26	.	19.7721	0.96370	0.0:1.0:0.0:0.0	.	957;894	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	957;894;58	ENSP00000366243:V957L;ENSP00000366266:V894L;ENSP00000366242:V58L	ENSP00000366242:V58L	V	-	1	0	TMEM2	73514111	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.743000	0.68655	2.683000	0.91414	0.557000	0.71058	GTG		0.448	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		46	62	1	0	1.0096e-33	1	1.47107e-33	46	62				
LRP11	84918	broad.mit.edu	37	6	150157413	150157413	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:150157413C>A	ENST00000239367.2	-	5	1065	c.1060G>T	c.(1060-1062)Gta>Tta	p.V354L	LRP11_ENST00000463728.1_5'Flank|LRP11_ENST00000546019.1_Missense_Mutation_p.V99L	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	354						integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		GTGTGGGTTACCATCTTGCGG	0.512																																						ENST00000239367.2																			0				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8						c.(1060-1062)Gta>Tta		low density lipoprotein receptor-related protein 11							75.0	68.0	71.0					6																	150157413		2203	4300	6503	SO:0001583	missense	84918					integral to membrane	receptor activity	g.chr6:150157413C>A	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.1060G>T	6.37:g.150157413C>A	ENSP00000239367:p.Val354Leu					LRP11_ENST00000546019.1_Missense_Mutation_p.V99L	p.V354L	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	5	1065	-		Ovarian(120;0.0907)	354					Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	c.1060G>T	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256646	0.39896	.	.	ENSG00000120256	ENST00000239367;ENST00000546019	T;D	0.96232	3.64;-3.95	5.93	3.93	0.45458	.	0.686003	0.14079	N	0.342876	D	0.88066	0.6337	L	0.53249	1.67	0.35084	D	0.763697	P	0.41159	0.74	B	0.35859	0.212	T	0.82940	-0.0208	10	0.19590	T	0.45	-15.1657	5.1301	0.14905	0.0:0.6883:0.0:0.3117	.	354	Q86VZ4	LRP11_HUMAN	L	354;99	ENSP00000239367:V354L;ENSP00000440196:V99L	ENSP00000239367:V354L	V	-	1	0	LRP11	150199106	0.518000	0.26234	0.947000	0.38551	0.390000	0.30446	0.431000	0.21444	1.523000	0.49018	0.563000	0.77884	GTA		0.512	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		16	37	1	0	8.60227e-14	1	1.06255e-13	16	37				
MUC16	94025	broad.mit.edu	37	19	9088024	9088024	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:9088024G>A	ENST00000397910.4	-	1	3994	c.3791C>T	c.(3790-3792)aCc>aTc	p.T1264I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1264	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						AAGTTTGATGGTGCTTGGACT	0.498																																						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.(3790-3792)aCc>aTc		mucin 16, cell surface associated							411.0	407.0	408.0					19																	9088024		2122	4240	6362	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088024G>A	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.3791C>T	19.37:g.9088024G>A	ENSP00000381008:p.Thr1264Ile						p.T1264I	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3994	-			1264			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3791C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.320	-0.355808	0.05138	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	1.38	-0.252	0.12999	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.16603	0.018	B	0.11329	0.006	T	0.42849	-0.9427	8	0.87932	D	0	.	3.5089	0.07701	0.3996:0.0:0.6004:0.0	.	1264	B5ME49	.	I	1264	ENSP00000381008:T1264I	ENSP00000381008:T1264I	T	-	2	0	MUC16	8949024	0.001000	0.12720	0.000000	0.03702	0.118000	0.20060	0.332000	0.19751	-0.034000	0.13713	0.305000	0.20034	ACC		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		177	421	0	0	0	1	0	177	421				
SYNE1	23345	broad.mit.edu	37	6	152453256	152453256	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:152453256C>A	ENST00000367255.5	-	144	26696		c.e144+1		SYNE1_ENST00000539504.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000354674.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000347037.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGGAAAGTTACCGTTTTCTGT	0.532										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.e144+1		spectrin repeat containing, nuclear envelope 1							184.0	151.0	162.0					6																	152453256		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152453256C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.26094+1G>T	6.37:g.152453256C>A		HNSCC(10;0.0054)				SYNE1_ENST00000347037.5_Splice_Site|SYNE1_ENST00000354674.4_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000539504.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site		NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	144	26696	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	SNP	ENST00000367255.5	37		CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857985	0.91433	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9447	0.97177	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SYNE1	152494949	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.294000	0.78760	2.719000	0.93026	0.655000	0.94253	.		0.532	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	27	74	1	0	4.59853e-10	1	5.33692e-10	27	74				
PLCB1	23236	broad.mit.edu	37	20	8113331	8113331	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:8113331G>T	ENST00000338037.6	+	1	60	c.33G>T	c.(31-33)ttG>ttT	p.L11F	PLCB1_ENST00000378641.3_Missense_Mutation_p.L11F|PLCB1_ENST00000378637.2_Missense_Mutation_p.L11F	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	11				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). {ECO:0000305}.	activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCACGCCTTGCAACTCAAGC	0.692																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(31-33)ttG>ttT		phospholipase C, beta 1 (phosphoinositide-specific)							40.0	33.0	36.0					20																	8113331		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8113331G>T	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.33G>T	20.37:g.8113331G>T	ENSP00000338185:p.Leu11Phe					PLCB1_ENST00000378637.2_Missense_Mutation_p.L11F|PLCB1_ENST00000338037.6_Missense_Mutation_p.L11F	p.L11F	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			1	508	+			11	MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).				D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.33G>T	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.070266	0.76301	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.51817	2.09;2.08;2.09;0.69	4.82	4.82	0.62117	.	0.109416	0.37178	N	0.002203	T	0.67107	0.2858	M	0.70275	2.135	0.41839	D	0.990117	P;D;D	0.89917	0.894;1.0;0.999	P;D;D	0.91635	0.696;0.999;0.996	T	0.71272	-0.4642	10	0.72032	D	0.01	.	14.3948	0.67003	0.0:0.1488:0.8512:0.0	.	11;11;10	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	F	11;11;11;10	ENSP00000367908:L11F;ENSP00000338185:L11F;ENSP00000367904:L11F;ENSP00000384001:L10F	ENSP00000338185:L11F	L	+	3	2	PLCB1	8061331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.338000	0.52128	2.378000	0.81104	0.558000	0.71614	TTG		0.692	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			16	11	1	0	6.49762e-13	1	7.91863e-13	16	11				
MROH2B	133558	broad.mit.edu	37	5	41033142	41033142	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:41033142C>T	ENST00000399564.4	-	23	2812		c.e23+1		MROH2B_ENST00000506092.2_Splice_Site	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B																		TGCACACTCACCAGCATGTAA	0.443																																						ENST00000399564.4																			0											c.e23+1		maestro heat-like repeat family member 2B							113.0	102.0	106.0					5																	41033142		1999	4173	6172	SO:0001630	splice_region_variant	133558							g.chr5:41033142C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2361+1G>A	5.37:g.41033142C>T						MROH2B_ENST00000506092.2_Splice_Site		NM_173489.4	NP_775760.3					23	2812	-								Q68DM1|Q7Z4U4|Q8N7X3	Splice_Site	SNP	ENST00000399564.4	37		CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.958777	0.74016	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9905	0.71384	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HEATR7B2	41068899	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.837000	0.55820	2.616000	0.88540	0.655000	0.94253	.		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	Intron	43	29	0	0	0	1	0	43	29				
FZD10	11211	broad.mit.edu	37	12	130648746	130648746	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:130648746T>A	ENST00000229030.4	+	1	1743	c.1259T>A	c.(1258-1260)cTg>cAg	p.L420Q	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Silent_p.P387P			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	420					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TTCGTGGCCCTGTTCCACATC	0.617																																						ENST00000229030.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1258-1260)cTg>cAg		frizzled family receptor 10							152.0	139.0	144.0					12																	130648746		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648746T>A	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1259T>A	12.37:g.130648746T>A	ENSP00000229030:p.Leu420Gln					FZD10_ENST00000539839.1_Silent_p.P387P	p.L420Q			Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1743	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		420						Missense_Mutation	SNP	ENST00000229030.4	37	c.1259T>A	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046281	0.75846	.	.	ENSG00000111432	ENST00000229030	D	0.90069	-2.61	5.1	5.1	0.69264	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000002	D	0.96231	0.8771	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97544	1.0088	10	0.87932	D	0	.	14.8734	0.70478	0.0:0.0:0.0:1.0	.	420	Q9ULW2	FZD10_HUMAN	Q	420	ENSP00000229030:L420Q	ENSP00000229030:L420Q	L	+	2	0	FZD10	129214699	1.000000	0.71417	0.490000	0.27465	0.961000	0.63080	7.858000	0.86971	1.911000	0.55334	0.459000	0.35465	CTG		0.617	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				21	62	0	0	0	1	0	21	62				
PMS1	5378	broad.mit.edu	37	2	190719157	190719157	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:190719157G>T	ENST00000441310.2	+	9	1392	c.1159G>T	c.(1159-1161)Gtc>Ttc	p.V387F	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.V387F|PMS1_ENST00000432292.3_Missense_Mutation_p.V211F|PMS1_ENST00000409823.3_Missense_Mutation_p.V348F|PMS1_ENST00000418224.3_Missense_Mutation_p.V211F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	387					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGATACTTCAGTCATTCCATT	0.333			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1159-1161)Gtc>Ttc	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							81.0	86.0	85.0					2																	190719157		2203	4297	6500	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190719157G>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.1159G>T	2.37:g.190719157G>T	ENSP00000406490:p.Val387Phe					PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000418224.3_Missense_Mutation_p.V211F|PMS1_ENST00000432292.3_Missense_Mutation_p.V211F|PMS1_ENST00000447232.2_Missense_Mutation_p.V387F|PMS1_ENST00000409823.3_Missense_Mutation_p.V348F	p.V387F	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		9	1392	+			387					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.1159G>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	0.312	-0.967045	0.02232	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;D;D;D;D;D	0.96522	-2.36;-2.04;-2.5;-2.89;-2.04;-2.17;-4.04	5.29	-3.25	0.05079	.	1.258120	0.05015	N	0.471729	D	0.88306	0.6401	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B	0.14805	0.0;0.002;0.004;0.011;0.0;0.005;0.0	B;B;B;B;B;B;B	0.12837	0.0;0.002;0.002;0.008;0.001;0.005;0.0	T	0.81147	-0.1065	10	0.09590	T	0.72	5.785	3.3663	0.07204	0.5354:0.0861:0.2178:0.1607	.	387;348;348;172;348;387;387	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	F	211;387;211;348;387;211;326;172	ENSP00000406490:V387F;ENSP00000404492:V211F;ENSP00000387125:V348F;ENSP00000401064:V387F;ENSP00000398378:V211F;ENSP00000389938:V326F;ENSP00000387169:V172F	ENSP00000376149:V211F	V	+	1	0	PMS1	190427402	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.241000	0.08940	-0.798000	0.04444	-3.470000	0.00035	GTC		0.333	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			21	36	1	0	7.45023e-12	1	8.98953e-12	21	36				
GPC6	10082	broad.mit.edu	37	13	94197572	94197572	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:94197572G>T	ENST00000377047.4	+	2	832	c.217G>T	c.(217-219)Gac>Tac	p.D73Y		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	73					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGAAATGGAAGACAAGTTAAG	0.398																																						ENST00000377047.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38						c.(217-219)Gac>Tac		glypican 6							159.0	146.0	150.0					13																	94197572		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94197572G>T	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.217G>T	13.37:g.94197572G>T	ENSP00000366246:p.Asp73Tyr						p.D73Y	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			2	832	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	73					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.217G>T	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810747	0.90707	.	.	ENSG00000183098	ENST00000377047	T	0.50548	0.74	5.0	5.0	0.66597	.	0.069762	0.56097	D	0.000037	T	0.61702	0.2368	L	0.50333	1.59	0.49798	D	0.999823	D;P	0.55385	0.971;0.946	P;P	0.59643	0.861;0.793	T	0.65121	-0.6245	10	0.87932	D	0	.	18.7207	0.91692	0.0:0.0:1.0:0.0	.	73;73	B4E2M1;Q9Y625	.;GPC6_HUMAN	Y	73	ENSP00000366246:D73Y	ENSP00000366246:D73Y	D	+	1	0	GPC6	92995573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.173000	0.94815	2.481000	0.83766	0.644000	0.83932	GAC		0.398	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		36	102	1	0	1.36161e-19	1	1.83391e-19	36	102				
SLC12A7	10723	broad.mit.edu	37	5	1083862	1083862	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:1083862A>T	ENST00000264930.5	-	8	1170	c.1127T>A	c.(1126-1128)cTg>cAg	p.L376Q		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	376					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGCCTCACCCAGGAAGACACC	0.677																																						ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1126-1128)cTg>cAg		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						37.0	41.0	40.0					5																	1083862		2201	4299	6500	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1083862A>T	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1127T>A	5.37:g.1083862A>T	ENSP00000264930:p.Leu376Gln						p.L376Q	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	1170	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		376					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.1127T>A	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	A	3.851	-0.031895	0.07543	.	.	ENSG00000113504	ENST00000264930	T	0.63744	-0.06	3.69	2.38	0.29361	.	0.625773	0.15791	N	0.244479	T	0.49029	0.1533	L	0.41710	1.295	0.31302	N	0.68814	B	0.15141	0.012	B	0.17098	0.017	T	0.50056	-0.8872	10	0.27785	T	0.31	.	8.8891	0.35423	0.6708:0.3292:0.0:0.0	.	376	Q9Y666	S12A7_HUMAN	Q	376	ENSP00000264930:L376Q	ENSP00000264930:L376Q	L	-	2	0	SLC12A7	1136862	0.004000	0.15560	0.990000	0.47175	0.068000	0.16541	0.786000	0.26844	1.446000	0.47643	0.397000	0.26171	CTG		0.677	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		18	90	0	0	0	1	0	18	90				
MRPS35	60488	broad.mit.edu	37	12	27908240	27908240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:27908240G>T	ENST00000081029.3	+	8	900	c.829G>T	c.(829-831)Gaa>Taa	p.E277*	MRPS35_ENST00000538315.1_3'UTR|Y_RNA_ENST00000516776.1_RNA	NM_021821.3	NP_068593.2	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S35	0						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					GAAAAATATGGAAATAAATAA	0.343																																						ENST00000081029.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(829-831)Gaa>Taa		mitochondrial ribosomal protein S35							71.0	82.0	78.0					12																	27908240		2202	4296	6498	SO:0001587	stop_gained	60488				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr12:27908240G>T	AF182422	CCDS8714.1, CCDS53769.1	12p11	2012-09-13			ENSG00000061794	ENSG00000061794		"""Mitochondrial ribosomal proteins / small subunits"""	16635	protein-coding gene	gene with protein product		611995				11279123	Standard	NM_021821		Approved	MRPS28, MDS023	uc001rih.3	P82673	OTTHUMG00000169215	ENST00000081029.3:c.829G>T	12.37:g.27908240G>T	ENSP00000081029:p.Glu277*					MRPS35_ENST00000538315.1_3'UTR	p.E277*	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN			8	900	+	Lung SC(9;0.0873)		277					B2RDZ7|Q96Q21	Nonsense_Mutation	SNP	ENST00000081029.3	37	c.829G>T	CCDS8714.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702901	0.30232	.	.	ENSG00000061794	ENST00000081029;ENST00000321446	.	.	.	6.06	3.16	0.36331	.	0.984433	0.08345	N	0.960201	.	.	.	.	.	.	0.19575	N	0.999963	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-7.672	6.3141	0.21180	0.1595:0.2874:0.5531:0.0	.	.	.	.	X	277;241	.	ENSP00000081029:E277X	E	+	1	0	MRPS35	27799507	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	1.162000	0.31786	0.398000	0.25338	0.643000	0.83706	GAA		0.343	MRPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402897.1	NM_021821		41	85	1	0	4.14481e-20	1	5.624e-20	41	85				
ZNF827	152485	broad.mit.edu	37	4	146823634	146823634	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:146823634C>A	ENST00000508784.1	-	2	1004	c.777G>T	c.(775-777)aaG>aaT	p.K259N	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.K259N			Q17R98	ZN827_HUMAN	zinc finger protein 827	259					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TTTCACTGACCTTCTTGGACA	0.547																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(775-777)aaG>aaT		zinc finger protein 827							66.0	65.0	65.0					4																	146823634		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823634C>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.777G>T	4.37:g.146823634C>A	ENSP00000421863:p.Lys259Asn					ZNF827_ENST00000379448.4_Missense_Mutation_p.K259N|ZNF827_ENST00000513320.1_Intron	p.K259N			Q17R98	ZN827_HUMAN			2	1004	-	all_hematologic(180;0.151)		259					B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.777G>T		.	.	.	.	.	.	.	.	.	.	C	15.65	2.897579	0.52121	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.09073	3.02;3.06	5.69	-2.39	0.06602	.	0.000000	0.85682	D	0.000000	T	0.13329	0.0323	L	0.27053	0.805	0.41736	D	0.989589	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	T	0.00114	-1.2040	10	0.72032	D	0.01	-13.5274	11.0543	0.47909	0.0:0.3875:0.0:0.6125	.	259;259	Q17R98;Q17R98-2	ZN827_HUMAN;.	N	259;259;258	ENSP00000421863:K259N;ENSP00000368761:K259N	ENSP00000281318:K258N	K	-	3	2	ZNF827	147043084	1.000000	0.71417	0.972000	0.41901	0.976000	0.68499	1.151000	0.31651	-0.694000	0.05113	-0.378000	0.06908	AAG		0.547	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		41	22	1	0	4.90274e-10	1	5.67195e-10	41	22				
CUBN	8029	broad.mit.edu	37	10	17085921	17085921	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:17085921G>T	ENST00000377833.4	-	26	3799	c.3734C>A	c.(3733-3735)cCc>cAc	p.P1245H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1245	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATAAGAGGGGGTTTCTCATC	0.428																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(3733-3735)cCc>cAc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						115.0	103.0	107.0					10																	17085921		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17085921G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3734C>A	10.37:g.17085921G>T	ENSP00000367064:p.Pro1245His						p.P1245H	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			26	3799	-			1245			CUB 7.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3734C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781000	0.70222	.	.	ENSG00000107611	ENST00000377833	T	0.42131	0.98	5.7	4.79	0.61399	CUB (5);	0.152124	0.30911	N	0.008635	T	0.72566	0.3476	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80672	-0.1278	10	0.72032	D	0.01	.	14.2432	0.65971	0.0723:0.0:0.9277:0.0	.	1245	O60494	CUBN_HUMAN	H	1245	ENSP00000367064:P1245H	ENSP00000367064:P1245H	P	-	2	0	CUBN	17125927	1.000000	0.71417	0.046000	0.18839	0.772000	0.43724	8.253000	0.89842	1.419000	0.47118	0.484000	0.47621	CCC		0.428	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		45	64	1	0	3.54909e-21	1	4.83365e-21	45	64				
URB2	9816	broad.mit.edu	37	1	229771138	229771138	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:229771138G>T	ENST00000258243.2	+	4	914	c.778G>T	c.(778-780)Gac>Tac	p.D260Y		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	260						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GGGGCTCTTGGACCAGCAGCA	0.567																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(778-780)Gac>Tac		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							58.0	58.0	58.0					1																	229771138		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229771138G>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.778G>T	1.37:g.229771138G>T	ENSP00000258243:p.Asp260Tyr						p.D260Y	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	914	+			260					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.778G>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856091	0.51376	.	.	ENSG00000135763	ENST00000258243	T	0.11604	2.76	5.39	5.39	0.77823	.	0.834672	0.10944	N	0.616841	T	0.16557	0.0398	L	0.36672	1.1	0.33044	D	0.531809	P	0.51791	0.948	P	0.49708	0.62	T	0.04811	-1.0925	9	.	.	.	-5.7963	15.0193	0.71617	0.0:0.0:1.0:0.0	.	260	Q14146	URB2_HUMAN	Y	260	ENSP00000258243:D260Y	.	D	+	1	0	URB2	227837761	0.387000	0.25188	1.000000	0.80357	0.974000	0.67602	1.445000	0.35079	2.700000	0.92200	0.650000	0.86243	GAC		0.567	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		6	88	1	0	0.0215528	1	0.0218218	6	88				
EPHA5	2044	broad.mit.edu	37	4	66270112	66270112	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:66270112G>T	ENST00000273854.3	-	8	2370	c.1770C>A	c.(1768-1770)atC>atA	p.I590I	EPHA5_ENST00000354839.4_Silent_p.I590I|EPHA5_ENST00000511294.1_Silent_p.I591I|EPHA5_ENST00000432638.2_Silent_p.I427I	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	590					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGAGGACGCCGATAACCACTG	0.488										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(1768-1770)atC>atA		EPH receptor A5							127.0	106.0	113.0					4																	66270112		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66270112G>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1770C>A	4.37:g.66270112G>T		TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Silent_p.I591I|EPHA5_ENST00000354839.4_Silent_p.I590I|EPHA5_ENST00000432638.2_Silent_p.I427I	p.I590I	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			8	2370	-			590					Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1770C>A	CCDS3513.1																																																																																				0.488	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		20	47	1	0	7.87624e-14	1	9.76173e-14	20	47				
ADAMTS16	170690	broad.mit.edu	37	5	5303769	5303769	+	Missense_Mutation	SNP	C	C	A	rs375182504		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:5303769C>A	ENST00000274181.7	+	20	3214	c.3076C>A	c.(3076-3078)Ccc>Acc	p.P1026T		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1026	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1026S(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAGCTGCTGCCCGACGCTGT	0.637																																						ENST00000274181.7																			2	Substitution - Missense(2)	p.P1026S(2)	lung(2)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3076-3078)Ccc>Acc		ADAM metallopeptidase with thrombospondin type 1 motif, 16		C	THR/PRO	2,4308		0,2,2153	38.0	47.0	44.0		3076	4.8	1.0	5		44	0,8524		0,0,4262	no	missense	ADAMTS16	NM_139056.2	38	0,2,6415	AA,AC,CC		0.0,0.0464,0.0156	probably-damaging	1026/1225	5303769	2,12832	2155	4262	6417	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303769C>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3076C>A	5.37:g.5303769C>A	ENSP00000274181:p.Pro1026Thr						p.P1026T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			20	3214	+			1026			TSP type-1 4.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3076C>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364340	0.41902	4.64E-4	0.0	ENSG00000145536	ENST00000274181	T	0.53857	0.6	4.79	4.79	0.61399	.	0.130811	0.51477	D	0.000095	T	0.64616	0.2614	M	0.83953	2.67	0.47698	D	0.999493	B;B	0.33494	0.414;0.286	B;B	0.42282	0.168;0.382	T	0.69815	-0.5043	10	0.59425	D	0.04	.	15.7068	0.77588	0.0:1.0:0.0:0.0	.	1026;1026	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	T	1026	ENSP00000274181:P1026T	ENSP00000274181:P1026T	P	+	1	0	ADAMTS16	5356769	1.000000	0.71417	0.986000	0.45419	0.060000	0.15804	3.295000	0.51794	2.359000	0.80004	0.650000	0.86243	CCC		0.637	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		58	29	1	0	6.20943e-19	1	8.30199e-19	58	29				
CBX5	23468	broad.mit.edu	37	12	54639952	54639952	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:54639952T>A	ENST00000439541.2	-	4	497	c.372A>T	c.(370-372)gaA>gaT	p.E124D	CBX5_ENST00000209875.4_Missense_Mutation_p.E124D|CBX5_ENST00000550411.1_Missense_Mutation_p.E124D	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	124	Chromo 2; shadow subtype. {ECO:0000255|PROSITE-ProRule:PRU00053}.|Interaction with ASXL1.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CAATGATCTTTTCTGGTTCCA	0.403																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(370-372)gaA>gaT		chromobox homolog 5							206.0	185.0	192.0					12																	54639952		2203	4300	6503	SO:0001583	missense	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54639952T>A	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.372A>T	12.37:g.54639952T>A	ENSP00000401009:p.Glu124Asp					CBX5_ENST00000550411.1_Missense_Mutation_p.E124D|CBX5_ENST00000439541.2_Missense_Mutation_p.E124D	p.E124D	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			4	508	-			124			Chromo 2; shadow subtype.		B2R8T9	Missense_Mutation	SNP	ENST00000439541.2	37	c.372A>T	CCDS8875.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548443	0.86127	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411	T;T;T	0.52057	0.68;0.68;0.68	5.45	-1.85	0.07784	Chromo shadow (1);Chromo domain-like (1);Chromo domain/shadow (2);Chromo shadow, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	L	0.58302	1.8	0.51233	D	0.999914	D;P	0.56035	0.974;0.715	D;P	0.67725	0.953;0.649	T	0.57382	-0.7821	10	0.62326	D	0.03	-20.1919	10.6716	0.45762	0.0:0.4476:0.0:0.5524	.	123;124	G3V1X9;P45973	.;CBX5_HUMAN	D	124;124;123;124	ENSP00000209875:E124D;ENSP00000401009:E124D;ENSP00000449207:E124D	ENSP00000209875:E124D	E	-	3	2	CBX5	52926219	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	1.287000	0.33284	-0.231000	0.09825	0.533000	0.62120	GAA		0.403	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		48	134	0	0	0	1	0	48	134				
ZNF804B	219578	broad.mit.edu	37	7	88965519	88965519	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:88965519G>C	ENST00000333190.4	+	4	3832	c.3223G>C	c.(3223-3225)Ggt>Cgt	p.G1075R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1075							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGAATTCCCTGGTGCTTTTCC	0.353										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(3223-3225)Ggt>Cgt		zinc finger protein 804B							58.0	57.0	57.0					7																	88965519		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965519G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3223G>C	7.37:g.88965519G>C	ENSP00000329638:p.Gly1075Arg	HNSCC(36;0.09)					p.G1075R	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3832	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1075					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3223G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139638	0.56936	.	.	ENSG00000182348	ENST00000333190	T	0.06218	3.33	5.04	4.14	0.48551	.	0.084759	0.51477	N	0.000089	T	0.09069	0.0224	L	0.36672	1.1	0.36743	D	0.882334	P	0.52170	0.951	P	0.48770	0.589	T	0.15350	-1.0440	10	0.87932	D	0	-11.3176	10.7416	0.46156	0.0:0.1428:0.7089:0.1483	.	1075	A4D1E1	Z804B_HUMAN	R	1075	ENSP00000329638:G1075R	ENSP00000329638:G1075R	G	+	1	0	ZNF804B	88803455	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.957000	0.56730	1.452000	0.47756	0.655000	0.94253	GGT		0.353	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		28	38	0	0	0	1	0	28	38				
ADCYAP1	116	broad.mit.edu	37	18	908354	908354	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr18:908354C>A	ENST00000579794.1	+	3	609	c.331C>A	c.(331-333)Cgg>Agg	p.R111R	ADCYAP1_ENST00000450565.3_Silent_p.R111R|RP11-672L10.3_ENST00000582554.1_RNA|RP11-672L10.2_ENST00000577358.1_RNA|RP11-672L10.2_ENST00000581719.2_RNA	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary)	111					activation of adenylate cyclase activity (GO:0007190)|ATP metabolic process (GO:0046034)|behavioral fear response (GO:0001662)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|cellular response to glucocorticoid stimulus (GO:0071385)|female pregnancy (GO:0007565)|histamine secretion (GO:0001821)|negative regulation of acute inflammatory response to antigenic stimulus (GO:0002865)|negative regulation of acute inflammatory response to non-antigenic stimulus (GO:0002878)|negative regulation of cell cycle (GO:0045786)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of Rho GTPase activity (GO:0034259)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|pituitary gland development (GO:0021983)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of somatostatin secretion (GO:0090274)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)|regulation of postsynaptic membrane potential (GO:0060078)|regulation of protein localization (GO:0032880)|response to ethanol (GO:0045471)|response to starvation (GO:0042594)|sensory perception of pain (GO:0019233)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	neuropeptide hormone activity (GO:0005184)|peptide hormone receptor binding (GO:0051428)|pituitary adenylate cyclase activating polypeptide activity (GO:0016521)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GCTCGTGGCCCGGGGCGTGGG	0.706																																						ENST00000579794.1																			0				endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(331-333)Cgg>Agg		adenylate cyclase activating polypeptide 1 (pituitary)							22.0	25.0	24.0					18																	908354		2203	4298	6501	SO:0001819	synonymous_variant	116				activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding	g.chr18:908354C>A	S83513	CCDS11825.1	18p11	2013-02-28			ENSG00000141433	ENSG00000141433		"""Endogenous ligands"""	241	protein-coding gene	gene with protein product	"""prepro-PACAP"""	102980				1730060	Standard	NM_001099733		Approved	PACAP	uc010dkh.4	P18509	OTTHUMG00000131479	ENST00000579794.1:c.331C>A	18.37:g.908354C>A						ADCYAP1_ENST00000450565.3_Silent_p.R111R	p.R111R	NM_001117.3	NP_001108.2	P18509	PACA_HUMAN			3	609	+			111					B2R7N4|Q52LQ0	Silent	SNP	ENST00000579794.1	37	c.331C>A	CCDS11825.1																																																																																				0.706	ADCYAP1-003	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440765.3	NM_001117		28	161	1	0	3.57733e-08	1	4.03002e-08	28	161				
CCDC112	153733	broad.mit.edu	37	5	114607088	114607088	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:114607088T>C	ENST00000512261.1	-	8	1321	c.905A>G	c.(904-906)aAa>aGa	p.K302R	CCDC112_ENST00000395557.4_Missense_Mutation_p.K302R|CCDC112_ENST00000506442.1_Missense_Mutation_p.K302R|CCDC112_ENST00000379611.5_Missense_Mutation_p.K385R			Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	302										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTGATGTTTTTTCTCTTTCTC	0.348																																						ENST00000379611.5																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1153-1155)aAa>aGa		coiled-coil domain containing 112							148.0	153.0	151.0					5																	114607088		2202	4299	6501	SO:0001583	missense	153733							g.chr5:114607088T>C	BC031242	CCDS4117.1, CCDS34213.1	5q22.3	2009-04-17			ENSG00000164221	ENSG00000164221			28599	protein-coding gene	gene with protein product						12477932	Standard	NM_001040440		Approved	MGC39633	uc003kqz.2	Q8NEF3	OTTHUMG00000128894	ENST00000512261.1:c.905A>G	5.37:g.114607088T>C	ENSP00000423712:p.Lys302Arg					CCDC112_ENST00000395557.4_Missense_Mutation_p.K302R|CCDC112_ENST00000512261.1_Missense_Mutation_p.K302R|CCDC112_ENST00000506442.1_Missense_Mutation_p.K302R	p.K385R	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)	7	1441	-		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	302					Q6A334	Missense_Mutation	SNP	ENST00000512261.1	37	c.1154A>G	CCDS4117.1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.330268	0.24167	.	.	ENSG00000164221	ENST00000379611;ENST00000512261;ENST00000506442;ENST00000395557	T;T;T;T	0.23348	1.91;2.24;2.2;2.24	6.17	2.63	0.31362	.	0.226724	0.52532	N	0.000079	T	0.13756	0.0333	N	0.17474	0.49	0.22280	N	0.999232	B;B;B	0.18863	0.031;0.031;0.031	B;B;B	0.19666	0.026;0.026;0.026	T	0.26503	-1.0101	10	0.21014	T	0.42	-15.8548	8.7757	0.34760	0.0:0.2167:0.0:0.7833	.	302;385;302	D6RF76;Q8NEF3-2;Q8NEF3	.;.;CC112_HUMAN	R	385;302;302;302	ENSP00000368931:K385R;ENSP00000423712:K302R;ENSP00000424876:K302R;ENSP00000378925:K302R	ENSP00000368931:K385R	K	-	2	0	CCDC112	114634987	0.998000	0.40836	0.972000	0.41901	0.951000	0.60555	1.240000	0.32731	0.588000	0.29660	0.533000	0.62120	AAA		0.348	CCDC112-003	PUTATIVE	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370999.1	NM_152549		51	38	0	0	0	1	0	51	38				
TSHZ3	57616	broad.mit.edu	37	19	31769229	31769229	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:31769229C>T	ENST00000240587.4	-	2	1797	c.1470G>A	c.(1468-1470)aaG>aaA	p.K490K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	490					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCGCCAGGCTTGTCTTTTT	0.468																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1468-1470)aaG>aaA		teashirt zinc finger homeobox 3							186.0	189.0	188.0					19																	31769229		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769229C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1470G>A	19.37:g.31769229C>T							p.K490K	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1797	-	Esophageal squamous(110;0.226)		490					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.1470G>A	CCDS12421.2																																																																																				0.468	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		56	249	0	0	0	1	0	56	249				
CDH11	1009	broad.mit.edu	37	16	65016142	65016142	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:65016142G>A	ENST00000268603.4	-	8	1677	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	CDH11_ENST00000566827.1_Silent_p.I228I|CDH11_ENST00000394156.3_Silent_p.I354I	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	354	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACTTCGGGTCGATGTGCACGT	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1060-1062)atC>atT		cadherin 11, type 2, OB-cadherin (osteoblast)							132.0	104.0	114.0					16																	65016142		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016142G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1062C>T	16.37:g.65016142G>A		TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Silent_p.I228I|CDH11_ENST00000268603.4_Silent_p.I354I	p.I354I			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1515	-		Ovarian(137;0.0973)	354			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1062C>T	CCDS10803.1																																																																																				0.468	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		41	27	0	0	0	1	0	41	27				
CMIP	80790	broad.mit.edu	37	16	81739204	81739204	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:81739204T>G	ENST00000537098.3	+	19	2264	c.2192T>G	c.(2191-2193)cTg>cGg	p.L731R	CMIP_ENST00000398040.4_Missense_Mutation_p.L578R|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Missense_Mutation_p.L637R	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	731						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CTGCTGGCCCTGAGCTGTGAG	0.622																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(2191-2193)cTg>cGg		c-Maf inducing protein							25.0	27.0	27.0					16																	81739204		1979	4142	6121	SO:0001583	missense	80790					cytoplasm|nucleus		g.chr16:81739204T>G	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.2192T>G	16.37:g.81739204T>G	ENSP00000446100:p.Leu731Arg					CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.L578R|CMIP_ENST00000539778.2_Missense_Mutation_p.L637R	p.L731R	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			19	2264	+			697					Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	c.2192T>G	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.673275	0.88445	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T	0.65364	-0.15;-0.15	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.85089	0.5617	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	D;D;D	0.83275	0.991;0.991;0.996	D	0.89747	0.3937	10	0.87932	D	0	.	15.3528	0.74402	0.0:0.0:0.0:1.0	.	578;637;731	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	R	731;637;637;544	ENSP00000446100:L731R;ENSP00000440401:L637R	ENSP00000381120:L637R	L	+	2	0	CMIP	80296705	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.638000	0.83328	2.036000	0.60181	0.375000	0.23000	CTG		0.622	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		5	4	0	0	0	1	0	5	4				
VWA5A	4013	broad.mit.edu	37	11	124006999	124006999	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:124006999C>A	ENST00000456829.2	+	13	1774	c.1523C>A	c.(1522-1524)cCa>cAa	p.P508Q	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Splice_Site_p.P508Q	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	508										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGGAGGATGCCAGTGAGTTCC	0.483																																						ENST00000456829.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.e13+1		von Willebrand factor A domain containing 5A							74.0	71.0	72.0					11																	124006999		2201	4299	6500	SO:0001630	splice_region_variant	4013							g.chr11:124006999C>A	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1524+1C>A	11.37:g.124006999C>A						VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Splice_Site_p.P508_splice	p.P508_splice	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			13	1774	+			508					Q6UN19|Q6UN20|Q9BVF8	Splice_Site	SNP	ENST00000456829.2	37	c.1524_splice	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	C	7.085	0.570952	0.13623	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04234	3.67;3.67	5.35	-0.0246	0.13938	.	1.136000	0.06257	N	0.693233	T	0.05318	0.0141	L	0.55990	1.75	0.09310	N	1	B	0.33883	0.43	B	0.27076	0.076	T	0.40327	-0.9569	10	0.42905	T	0.14	-6.3138	4.7814	0.13204	0.1409:0.5325:0.0:0.3267	.	508	O00534	VMA5A_HUMAN	Q	508	ENSP00000407726:P508Q;ENSP00000376504:P508Q	ENSP00000376504:P508Q	P	+	2	0	VWA5A	123512209	0.379000	0.25123	0.959000	0.39883	0.278000	0.26855	0.009000	0.13219	0.012000	0.14892	0.650000	0.86243	CCA		0.483	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	Missense_Mutation	6	35	1	0	0.0293803	1	0.0296648	6	35				
LMNB2	84823	broad.mit.edu	37	19	2434809	2434809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:2434809G>A	ENST00000582871.1	-	6	984	c.898C>T	c.(898-900)Cag>Tag	p.Q300*	LMNB2_ENST00000475819.1_5'Flank|LMNB2_ENST00000325327.3_Nonsense_Mutation_p.Q320*	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	300	Coil 2.|Rod.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGAGAGCTGGTAGCTGAGG	0.687																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(958-960)Cag>Tag		lamin B2							19.0	15.0	16.0					19																	2434809		2191	4284	6475	SO:0001587	stop_gained	84823					nuclear inner membrane	structural molecule activity	g.chr19:2434809G>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.898C>T	19.37:g.2434809G>A	ENSP00000462730:p.Gln300*					LMNB2_ENST00000582871.1_Nonsense_Mutation_p.Q300*	p.Q320*			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1020	-		Hepatocellular(1079;0.137)	300			Coil 2.|Rod.		O75292|Q14734|Q96DF6	Nonsense_Mutation	SNP	ENST00000582871.1	37	c.958C>T		.	.	.	.	.	.	.	.	.	.	G	38	7.176008	0.98114	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.43	4.43	0.53597	.	0.060964	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	15.6051	0.76664	0.0:0.0:1.0:0.0	.	.	.	.	X	300	.	ENSP00000327054:Q300X	Q	-	1	0	LMNB2	2385809	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.448000	0.73469	2.008000	0.58898	0.561000	0.74099	CAG		0.687	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		10	18	0	0	0	1	0	10	18				
AGAP3	116988	broad.mit.edu	37	7	150815625	150815625	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:150815625A>T	ENST00000463381.1	+	7	687	c.191A>T	c.(190-192)cAg>cTg	p.Q64L	AGAP3_ENST00000473312.1_Missense_Mutation_p.Q292L|AGAP3_ENST00000397238.2_Missense_Mutation_p.Q292L|AGAP3_ENST00000335367.3_Missense_Mutation_p.Q472L|AGAP3_ENST00000479901.1_Missense_Mutation_p.Q292L	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	256					cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGAAAGAAGCAGCAACTGGCC	0.622																																						ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(874-876)cAg>cTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3							55.0	66.0	63.0					7																	150815625		2121	4246	6367	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150815625A>T	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.191A>T	7.37:g.150815625A>T	ENSP00000418016:p.Gln64Leu					AGAP3_ENST00000335367.3_Missense_Mutation_p.Q472L|AGAP3_ENST00000479901.1_Missense_Mutation_p.Q292L|AGAP3_ENST00000463381.1_Missense_Mutation_p.Q64L|AGAP3_ENST00000473312.1_Missense_Mutation_p.Q292L	p.Q292L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			7	875	+			256			Small GTPase-like.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.875A>T		.	.	.	.	.	.	.	.	.	.	a	15.18	2.757532	0.49468	.	.	ENSG00000133612	ENST00000463381;ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355;ENST00000335367;ENST00000468796	T;T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3;1.3	4.02	4.02	0.46733	.	0.166506	0.40385	N	0.001113	T	0.23688	0.0573	L	0.38175	1.15	0.58432	D	0.999997	B;B;P;B;B	0.36027	0.018;0.004;0.533;0.001;0.012	B;B;B;B;B	0.28784	0.004;0.004;0.094;0.001;0.034	T	0.05115	-1.0905	10	0.17369	T	0.5	.	12.3028	0.54884	1.0:0.0:0.0:0.0	.	292;472;292;292;64	C9J975;E7ESL9;Q96P47-4;E9PAL8;B3KNZ8	.;.;.;.;.	L	64;292;292;292;256;472;57	ENSP00000418016:Q64L;ENSP00000418921:Q292L;ENSP00000418125:Q292L;ENSP00000380413:Q292L;ENSP00000335589:Q472L;ENSP00000418159:Q57L	ENSP00000334157:Q256L	Q	+	2	0	AGAP3	150446558	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.877000	0.92386	1.695000	0.51148	0.255000	0.18592	CAG		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		67	74	0	0	0	1	0	67	74				
KIAA1731	85459	broad.mit.edu	37	11	93454576	93454576	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:93454576A>G	ENST00000325212.6	+	19	6010	c.5848A>G	c.(5848-5850)Aag>Gag	p.K1950E	SCARNA9_ENST00000362805.1_RNA|KIAA1731_ENST00000344196.4_Missense_Mutation_p.K130E|Y_RNA_ENST00000363005.1_RNA|SCARNA9_ENST00000530422.1_RNA|SCARNA9_ENST00000364329.1_RNA|KIAA1731_ENST00000531700.1_Missense_Mutation_p.K130E|KIAA1731_ENST00000411936.1_Missense_Mutation_p.K1950E			Q9C0D2	K1731_HUMAN	KIAA1731	1950						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCAGATGATAAGGTTAGTAA	0.353																																						ENST00000325212.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11						c.(5848-5850)Aag>Gag		KIAA1731							308.0	260.0	274.0					11																	93454576		692	1591	2283	SO:0001583	missense	85459					centrosome		g.chr11:93454576A>G	AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.5848A>G	11.37:g.93454576A>G	ENSP00000316681:p.Lys1950Glu					KIAA1731_ENST00000531700.1_Missense_Mutation_p.K130E|KIAA1731_ENST00000411936.1_Missense_Mutation_p.K1950E|KIAA1731_ENST00000344196.4_Missense_Mutation_p.K130E	p.K1950E			Q9C0D2	K1731_HUMAN			19	6010	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	1950					C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	ENST00000325212.6	37	c.5848A>G	CCDS44708.1	.	.	.	.	.	.	.	.	.	.	A	7.997	0.754488	0.15778	.	.	ENSG00000166004	ENST00000325212;ENST00000411936;ENST00000344196;ENST00000531700;ENST00000530425	T;T	0.12361	2.69;2.69	4.54	0.665	0.17896	.	0.823432	0.10018	N	0.726345	T	0.07324	0.0185	L	0.32530	0.975	0.09310	N	0.999996	B;B	0.15930	0.015;0.015	B;B	0.14578	0.011;0.011	T	0.43310	-0.9399	10	0.02654	T	1	.	3.2539	0.06824	0.5491:0.2127:0.2382:0.0	.	1950;130	Q9C0D2;Q9C0D2-2	K1731_HUMAN;.	E	1950;1950;130;130;130	ENSP00000316681:K1950E;ENSP00000406505:K1950E	ENSP00000316681:K1950E	K	+	1	0	KIAA1731	93094224	0.121000	0.22262	0.760000	0.31359	0.435000	0.31806	0.086000	0.14935	0.157000	0.19338	-0.326000	0.08463	AAG		0.353	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394640.1	NM_033395		7	23	0	0	0	1	0	7	23				
SSPO	23145	broad.mit.edu	37	7	149482236	149482236	+	RNA	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:149482236T>A	ENST00000378016.2	+	0	2910							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)			GCTGTGTGCCTCCTGACCTCT	0.637																																						ENST00000378016.2																			0													SCO-spondin							99.0	105.0	103.0					7																	149482236		2182	4281	6463			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149482236T>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.149482236T>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	2910	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.637	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				53	59	0	0	0	1	0	53	59				
COL14A1	7373	broad.mit.edu	37	8	121293232	121293232	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:121293232C>T	ENST00000297848.3	+	31	4028	c.3758C>T	c.(3757-3759)cCt>cTt	p.P1253L	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1158L|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1253L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTATGGAGCCTGGTACCTTC	0.358																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(3757-3759)cCt>cTt		collagen, type XIV, alpha 1							92.0	96.0	94.0					8																	121293232		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121293232C>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3758C>T	8.37:g.121293232C>T	ENSP00000297848:p.Pro1253Leu					COL14A1_ENST00000247781.3_Missense_Mutation_p.P1158L|COL14A1_ENST00000309791.4_Missense_Mutation_p.P1253L	p.P1253L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		31	4028	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1253			Nonhelical region (NC4).|TSP N-terminal.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3758C>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709558	0.89018	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.02446	4.29;4.29;4.29	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19446	0.0467	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00040	-1.2237	10	0.62326	D	0.03	.	20.2626	0.98452	0.0:1.0:0.0:0.0	.	1253	Q05707	COEA1_HUMAN	L	1253;1253;1158	ENSP00000311809:P1253L;ENSP00000297848:P1253L;ENSP00000247781:P1158L	ENSP00000247781:P1158L	P	+	2	0	COL14A1	121362413	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	7.794000	0.85869	2.802000	0.96397	0.650000	0.86243	CCT		0.358	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		20	32	0	0	0	1	0	20	32				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	284802							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	203	0	0	0	1	0	7	203				
CYTIP	9595	broad.mit.edu	37	2	158287446	158287446	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:158287446C>A	ENST00000264192.3	-	4	429	c.308G>T	c.(307-309)tGc>tTc	p.C103F	CYTIP_ENST00000497432.1_5'UTR|CYTIP_ENST00000540637.1_5'UTR	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	103	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TTCCGAGGAGCAGGCATTCTG	0.378																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(307-309)tGc>tTc		cytohesin 1 interacting protein							49.0	50.0	50.0					2																	158287446		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158287446C>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.308G>T	2.37:g.158287446C>A	ENSP00000264192:p.Cys103Phe					CYTIP_ENST00000540637.1_5'UTR|CYTIP_ENST00000497432.1_5'UTR	p.C103F	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			4	429	-			103			PDZ.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.308G>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	C	4.472	0.087469	0.08583	.	.	ENSG00000115165	ENST00000264192;ENST00000439355	T;T	0.30448	2.35;1.53	6.17	1.89	0.25635	PDZ/DHR/GLGF (4);	0.412070	0.32769	N	0.005662	T	0.14960	0.0361	N	0.24115	0.695	0.20926	N	0.999824	B	0.06786	0.001	B	0.12156	0.007	T	0.27191	-1.0081	10	0.10377	T	0.69	-0.3505	5.3917	0.16247	0.1456:0.6043:0.0:0.25	.	103	O60759	CYTIP_HUMAN	F	103;68	ENSP00000264192:C103F;ENSP00000402771:C68F	ENSP00000264192:C103F	C	-	2	0	CYTIP	157995692	0.019000	0.18553	0.024000	0.17045	0.482000	0.33219	0.055000	0.14229	0.485000	0.27652	0.655000	0.94253	TGC		0.378	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		7	13	1	0	0.00307968	1	0.0031709	7	13				
CENPE	1062	broad.mit.edu	37	4	104066453	104066453	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:104066453T>C	ENST00000265148.3	-	32	4700	c.4611A>G	c.(4609-4611)atA>atG	p.I1537M	CENPE_ENST00000380026.3_Missense_Mutation_p.I1512M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1537					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TAATTTGTTTTATATTAAATT	0.294																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(4609-4611)atA>atG		centromere protein E, 312kDa							53.0	51.0	52.0					4																	104066453		2201	4298	6499	SO:0001583	missense	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104066453T>C	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4611A>G	4.37:g.104066453T>C	ENSP00000265148:p.Ile1537Met					CENPE_ENST00000380026.3_Missense_Mutation_p.I1512M	p.I1537M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	32	4700	-			1537					A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	c.4611A>G	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	T	2.890	-0.229785	0.06022	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.70631	-0.44;-0.5	4.09	-1.44	0.08856	.	.	.	.	.	T	0.52821	0.1758	N	0.04508	-0.205	0.09310	N	1	D;P	0.58620	0.983;0.855	P;B	0.53861	0.736;0.215	T	0.49597	-0.8923	9	0.24483	T	0.36	.	6.4249	0.21764	0.0:0.1008:0.3404:0.5589	.	1512;1537	Q02224-3;Q02224	.;CENPE_HUMAN	M	1537;1537;1512	ENSP00000265148:I1537M;ENSP00000369365:I1512M	ENSP00000265148:I1537M	I	-	3	3	CENPE	104285902	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.437000	0.06914	-0.445000	0.07159	0.408000	0.27601	ATA		0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	21	0	0	0	1	0	18	21				
LHCGR	3973	broad.mit.edu	37	2	48914996	48914996	+	Missense_Mutation	SNP	C	C	G	rs559262616	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:48914996C>G	ENST00000294954.7	-	11	1961	c.1940G>C	c.(1939-1941)cGg>cCg	p.R647P	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R620P|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.R585P	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	647					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAGTTCAGCCCGACGTTTACA	0.383																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(1939-1941)cGg>cCg		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						101.0	105.0	104.0					2																	48914996		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48914996C>G		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1940G>C	2.37:g.48914996C>G	ENSP00000294954:p.Arg647Pro					LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.R585P|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R620P|LHCGR_ENST00000403273.1_3'UTR	p.R647P	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	1961	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	647					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.1940G>C	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894317	0.52121	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.37058	1.22;1.22;1.22	5.92	4.14	0.48551	.	0.235119	0.44097	D	0.000492	T	0.51261	0.1664	M	0.85197	2.74	0.37155	D	0.902324	D	0.54207	0.965	P	0.51615	0.675	T	0.61831	-0.6982	9	.	.	.	.	9.4447	0.38690	0.0:0.7844:0.0:0.2156	.	647	P22888	LSHR_HUMAN	P	585;647;620	ENSP00000344301:R585P;ENSP00000294954:R647P;ENSP00000386033:R620P	.	R	-	2	0	LHCGR	48768500	0.900000	0.30661	0.989000	0.46669	0.972000	0.66771	0.510000	0.22723	0.847000	0.35167	0.585000	0.79938	CGG		0.383	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		52	114	0	0	0	1	0	52	114				
KCNJ5	3762	broad.mit.edu	37	11	128782056	128782056	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:128782056G>A	ENST00000338350.4	+	3	1240	c.888G>A	c.(886-888)caG>caA	p.Q296Q	KCNJ5_ENST00000529694.1_Silent_p.Q296Q|KCNJ5_ENST00000533599.1_Silent_p.Q296Q			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	296					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	AGCTGCATCAGGAAGAGTTTG	0.542																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	ENST00000529694.1																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(886-888)caG>caA		potassium inwardly-rectifying channel, subfamily J, member 5	Glibenclamide(DB01016)						102.0	97.0	99.0					11																	128782056		2201	4297	6498	SO:0001819	synonymous_variant	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128782056G>A	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.888G>A	11.37:g.128782056G>A						KCNJ5_ENST00000533599.1_Silent_p.Q296Q|KCNJ5_ENST00000338350.4_Silent_p.Q296Q	p.Q296Q	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1264	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	296					B2R744|Q6DK13|Q6DK14|Q92807	Silent	SNP	ENST00000338350.4	37	c.888G>A	CCDS8479.1																																																																																				0.542	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1	NM_000890		61	119	0	0	0	1	0	61	119				
RASGRF1	5923	broad.mit.edu	37	15	79292142	79292142	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:79292142C>G	ENST00000419573.3	-	18	3011	c.2737G>C	c.(2737-2739)Gcc>Ccc	p.A913P	RASGRF1_ENST00000558480.2_Missense_Mutation_p.A897P|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Missense_Mutation_p.A129P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	913					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCTCGTTGGCCCCGGCGGTT	0.572																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2737-2739)Gcc>Ccc		Ras protein-specific guanine nucleotide-releasing factor 1							149.0	111.0	124.0					15																	79292142		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79292142C>G	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2737G>C	15.37:g.79292142C>G	ENSP00000405963:p.Ala913Pro					RASGRF1_ENST00000394745.3_Missense_Mutation_p.A129P|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A897P	p.A913P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			18	3011	-			915					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2737G>C	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750566	0.89753	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.66638	-0.22;0.28	4.34	4.34	0.51931	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.667620	0.14558	N	0.312249	T	0.81678	0.4873	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.89917	0.985;1.0;0.997;1.0	P;D;D;D	0.91635	0.827;0.999;0.941;0.999	T	0.82200	-0.0575	10	0.56958	D	0.05	.	14.3634	0.66789	0.0:1.0:0.0:0.0	.	309;897;915;897	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	P	913;897;129	ENSP00000405963:A913P;ENSP00000378228:A129P	ENSP00000378224:A897P	A	-	1	0	RASGRF1	77079197	1.000000	0.71417	0.933000	0.37362	0.960000	0.62799	7.063000	0.76714	2.236000	0.73375	0.591000	0.81541	GCC		0.572	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		47	98	0	0	0	1	0	47	98				
ZFHX4	79776	broad.mit.edu	37	8	77616489	77616489	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:77616489C>A	ENST00000521891.2	+	2	614	c.166C>A	c.(166-168)Cgc>Agc	p.R56S	ZFHX4_ENST00000050961.6_Missense_Mutation_p.R56S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R56S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R56S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R56C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACGGATGAGCGCAAAAGTGA	0.498										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - Missense(1)	p.R56C(1)	pancreas(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(166-168)Cgc>Agc		zinc finger homeobox 4							84.0	89.0	88.0					8																	77616489		2056	4219	6275	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616489C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.166C>A	8.37:g.77616489C>A	ENSP00000430497:p.Arg56Ser	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.R56S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R56S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R56S	p.R56S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	614	+			56					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.166C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	8.376	0.836504	0.16891	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.49720	0.77;0.82;0.78;1.5;0.92;1.5;0.92;0.77	5.53	5.53	0.82687	.	0.000000	0.45361	U	0.000366	T	0.33235	0.0856	N	0.12182	0.205	0.41650	D	0.989129	P;P;P;B	0.43578	0.713;0.811;0.811;0.001	B;B;B;B	0.39299	0.155;0.193;0.296;0.002	T	0.09465	-1.0673	10	0.25106	T	0.35	.	19.6556	0.95837	0.0:1.0:0.0:0.0	.	56;56;56;56	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	56	ENSP00000430497:R56S;ENSP00000399605:R56S;ENSP00000050961:R56S;ENSP00000428525:R56S;ENSP00000429495:R56S;ENSP00000427775:R56S;ENSP00000427739:R56S;ENSP00000430848:R56S	ENSP00000050961:R56S	R	+	1	0	ZFHX4	77779044	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.639000	0.54339	2.882000	0.98803	0.655000	0.94253	CGC		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		46	61	1	0	2.24893e-16	1	2.93164e-16	46	61				
DGKG	1608	broad.mit.edu	37	3	185882752	185882752	+	Silent	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:185882752C>G	ENST00000265022.3	-	23	2690	c.2151G>C	c.(2149-2151)ggG>ggC	p.G717G	DGKG_ENST00000344484.4_Silent_p.G692G|DGKG_ENST00000544847.1_Silent_p.G658G|DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000382164.4_Silent_p.G678G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	717					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGTAGATCTGCCCCATCTCCA	0.562																																						ENST00000265022.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42						c.(2149-2151)ggG>ggC		diacylglycerol kinase, gamma 90kDa	Phosphatidylserine(DB00144)						112.0	92.0	99.0					3																	185882752		2203	4300	6503	SO:0001819	synonymous_variant	1608				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr3:185882752C>G	AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.2151G>C	3.37:g.185882752C>G						DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000544847.1_Silent_p.G658G|DGKG_ENST00000344484.4_Silent_p.G692G|DGKG_ENST00000382164.4_Silent_p.G678G	p.G717G	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	23	2690	-	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		717					B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	ENST00000265022.3	37	c.2151G>C	CCDS3274.1																																																																																				0.562	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			54	88	0	0	0	1	0	54	88				
UGGT1	56886	broad.mit.edu	37	2	128890738	128890738	+	Silent	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:128890738T>C	ENST00000259253.6	+	14	1448	c.1401T>C	c.(1399-1401)gaT>gaC	p.D467D	UGGT1_ENST00000375990.3_Silent_p.D443D	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	467					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGAGGTTGATAGCAGATATA	0.378																																						ENST00000375990.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						c.(1327-1329)gaT>gaC		UDP-glucose glycoprotein glucosyltransferase 1							191.0	190.0	190.0					2																	128890738		2203	4300	6503	SO:0001819	synonymous_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128890738T>C	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1401T>C	2.37:g.128890738T>C						UGGT1_ENST00000259253.6_Silent_p.D467D	p.D443D			Q9NYU2	UGGG1_HUMAN			14	1732	+			467					Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	c.1329T>C	CCDS2154.1																																																																																				0.378	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120		77	128	0	0	0	1	0	77	128				
CEP70	80321	broad.mit.edu	37	3	138218970	138218970	+	Missense_Mutation	SNP	C	C	A	rs563049064		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:138218970C>A	ENST00000264982.3	-	16	1900	c.1634G>T	c.(1633-1635)gGa>gTa	p.G545V	CEP70_ENST00000542237.1_Missense_Mutation_p.G525V|CEP70_ENST00000484888.1_Missense_Mutation_p.G545V|CEP70_ENST00000489254.1_Missense_Mutation_p.G393V|CEP70_ENST00000481834.1_Missense_Mutation_p.G545V	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	545					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTCTTCAGGTCCTAATACCTG	0.443																																						ENST00000264982.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(1633-1635)gGa>gTa		centrosomal protein 70kDa							109.0	121.0	117.0					3																	138218970		2203	4300	6503	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138218970C>A	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1634G>T	3.37:g.138218970C>A	ENSP00000264982:p.Gly545Val					CEP70_ENST00000542237.1_Missense_Mutation_p.G525V|CEP70_ENST00000489254.1_Missense_Mutation_p.G393V|CEP70_ENST00000481834.1_Missense_Mutation_p.G545V|CEP70_ENST00000484888.1_Missense_Mutation_p.G545V	p.G545V	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN			16	1900	-			545					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.1634G>T	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678829	0.68042	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000459695;ENST00000481834	T;T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82;1.82	5.21	5.21	0.72293	.	0.255710	0.39274	N	0.001416	T	0.49881	0.1583	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.89917	0.998;0.998;1.0;1.0	D;D;D;D	0.97110	0.952;0.934;1.0;1.0	T	0.48969	-0.8987	10	0.66056	D	0.02	-24.0999	14.1269	0.65228	0.0:1.0:0.0:0.0	.	393;525;545;545	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	V	545;525;393;545;527;18;545	ENSP00000264982:G545V;ENSP00000444128:G525V;ENSP00000417821:G393V;ENSP00000419231:G545V;ENSP00000419833:G527V;ENSP00000418552:G18V;ENSP00000417465:G545V	ENSP00000264982:G545V	G	-	2	0	CEP70	139701660	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.428000	0.59894	2.721000	0.93114	0.655000	0.94253	GGA		0.443	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491		47	52	1	0	3.54909e-21	1	4.83365e-21	47	52				
TRIM17	51127	broad.mit.edu	37	1	228602428	228602428	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:228602428G>T	ENST00000366697.2	-	1	1302	c.346C>A	c.(346-348)Ccc>Acc	p.P116T	TRIM17_ENST00000295033.3_Missense_Mutation_p.P116T|TRIM17_ENST00000456946.2_Missense_Mutation_p.P116T|TRIM17_ENST00000366698.2_Missense_Mutation_p.P116T			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	116					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				ACACAGATGGGGCTCTGGTCC	0.657																																						ENST00000366697.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(346-348)Ccc>Acc		tripartite motif containing 17							75.0	82.0	80.0					1																	228602428		2203	4300	6503	SO:0001583	missense	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228602428G>T	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.346C>A	1.37:g.228602428G>T	ENSP00000355658:p.Pro116Thr					TRIM17_ENST00000295033.3_Missense_Mutation_p.P116T|TRIM17_ENST00000366698.2_Missense_Mutation_p.P116T|TRIM17_ENST00000456946.2_Missense_Mutation_p.P116T	p.P116T			Q9Y577	TRI17_HUMAN			1	1302	-		Prostate(94;0.0724)	116					B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.346C>A	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618216	0.66787	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800;ENST00000355586	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	4.82	4.82	0.62117	Zinc finger, B-box (3);	0.000000	0.41823	D	0.000817	T	0.60011	0.2236	L	0.58302	1.8	0.36083	D	0.842943	D;D	0.89917	0.998;1.0	D;D	0.77004	0.979;0.989	T	0.63484	-0.6627	10	0.31617	T	0.26	.	9.7415	0.40420	0.0966:0.0:0.9034:0.0	.	116;116	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	T	116;116;116;116;89;116	ENSP00000355658:P116T;ENSP00000355659:P116T;ENSP00000295033:P116T;ENSP00000403312:P116T;ENSP00000430468:P89T;ENSP00000347794:P116T	ENSP00000295033:P116T	P	-	1	0	TRIM17	226669051	0.001000	0.12720	0.994000	0.49952	0.990000	0.78478	0.714000	0.25808	2.607000	0.88179	0.655000	0.94253	CCC		0.657	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		17	152	1	0	3.99206e-14	1	4.98154e-14	17	152				
BTBD11	121551	broad.mit.edu	37	12	107937909	107937909	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:107937909G>T	ENST00000280758.5	+	3	2011	c.1483G>T	c.(1483-1485)Gtg>Ttg	p.V495L	BTBD11_ENST00000490090.2_Missense_Mutation_p.V495L|BTBD11_ENST00000420571.2_Missense_Mutation_p.V495L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	495						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAACCTCCAGGTGGAAAGGTA	0.567																																						ENST00000280758.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(1483-1485)Gtg>Ttg		BTB (POZ) domain containing 11							44.0	40.0	41.0					12																	107937909		2203	4300	6503	SO:0001583	missense	121551					integral to membrane	DNA binding	g.chr12:107937909G>T	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1483G>T	12.37:g.107937909G>T	ENSP00000280758:p.Val495Leu					BTBD11_ENST00000420571.2_Missense_Mutation_p.V495L|BTBD11_ENST00000490090.2_Missense_Mutation_p.V495L	p.V495L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN			3	2011	+			495					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1483G>T	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347764	0.24426	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943	T;T;T;T;T	0.42900	1.37;1.44;1.41;0.96;0.97	5.66	3.59	0.41128	.	0.457751	0.22207	N	0.063142	T	0.16642	0.0400	N	0.08118	0	0.80722	D	1	B;B;B	0.28291	0.023;0.001;0.206	B;B;B	0.27500	0.019;0.002;0.08	T	0.06552	-1.0820	10	0.12103	T	0.63	.	2.5736	0.04800	0.2596:0.3067:0.4337:0.0	.	495;495;495	A6QL63-2;A6QL63;A6QL63-3	.;BTBDB_HUMAN;.	L	495;495;495;126;129	ENSP00000280758:V495L;ENSP00000413889:V495L;ENSP00000447319:V495L;ENSP00000447606:V126L;ENSP00000407416:V129L	ENSP00000280758:V495L	V	+	1	0	BTBD11	106462039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.284000	0.72652	1.379000	0.46325	0.655000	0.94253	GTG		0.567	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		13	33	1	0	1.61879e-10	1	1.90908e-10	13	33				
PYCRL	65263	broad.mit.edu	37	8	144687915	144687915	+	Silent	SNP	G	G	C	rs377538024		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:144687915G>C	ENST00000220966.6	-	6	845	c.816C>G	c.(814-816)gcC>gcG	p.A272A	PYCRL_ENST00000377579.3_Silent_p.A123A|RP11-661A12.14_ENST00000606452.1_lincRNA|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	260					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	CAGCCTCCACGGCGCTCATGG	0.682																																						ENST00000220966.6																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(814-816)gcC>gcG		pyrroline-5-carboxylate reductase-like							28.0	32.0	31.0					8																	144687915		2198	4295	6493	SO:0001819	synonymous_variant	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144687915G>C	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.816C>G	8.37:g.144687915G>C						PYCRL_ENST00000377579.3_Silent_p.A123A|PYCRL_ENST00000495276.1_5'UTR	p.A272A	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		6	845	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		260					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	c.816C>G	CCDS6407.2																																																																																				0.682	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078		9	71	0	0	0	1	0	9	71				
PCDHB11	56125	broad.mit.edu	37	5	140580934	140580934	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:140580934C>A	ENST00000354757.3	+	1	1587	c.1587C>A	c.(1585-1587)ttC>ttA	p.F529L	PCDHB11_ENST00000536699.1_Missense_Mutation_p.F164L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	529	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTCGACTTCCGCGTGGGCG	0.672																																						ENST00000354757.3																			0				NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1585-1587)ttC>ttA									56.0	73.0	67.0					5																	140580934		2202	4300	6502	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580934C>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1587C>A	5.37:g.140580934C>A	ENSP00000346802:p.Phe529Leu					PCDHB11_ENST00000536699.1_Missense_Mutation_p.F164L	p.F529L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1587	+			529			Cadherin 5.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1587C>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	12.63	1.994184	0.35226	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.28069	1.63;1.63	2.51	0.586	0.17434	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.32763	0.0840	L	0.33668	1.02	0.09310	N	1	P	0.41546	0.754	P	0.56865	0.808	T	0.28364	-1.0046	9	0.20519	T	0.43	.	5.4327	0.16463	0.0:0.3009:0.4745:0.2245	.	529	Q9Y5F2	PCDBB_HUMAN	L	164;529	ENSP00000440344:F164L;ENSP00000346802:F529L	ENSP00000346802:F529L	F	+	3	2	PCDHB11	140561118	0.000000	0.05858	0.004000	0.12327	0.080000	0.17528	-0.984000	0.03755	-0.006000	0.14370	-0.706000	0.03657	TTC		0.672	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		117	64	1	0	4.73232e-52	1	7.07909e-52	117	64				
HECTD2	143279	broad.mit.edu	37	10	93221098	93221098	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:93221098A>C	ENST00000298068.5	+	4	589	c.495A>C	c.(493-495)ttA>ttC	p.L165F	HECTD2_ENST00000446394.1_Missense_Mutation_p.L165F|HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000371681.4_Missense_Mutation_p.L165F	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	165					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TCCCAGAATTAAATGCTGCAT	0.279																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(493-495)ttA>ttC		HECT domain containing E3 ubiquitin protein ligase 2							82.0	96.0	91.0					10																	93221098		2201	4289	6490	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93221098A>C	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.495A>C	10.37:g.93221098A>C	ENSP00000298068:p.Leu165Phe					HECTD2_ENST00000298068.5_Missense_Mutation_p.L165F|HECTD2_ENST00000371681.4_Missense_Mutation_p.L165F	p.L165F			Q5U5R9	HECD2_HUMAN			4	595	+			165					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.495A>C	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.170411	0.57584	.	.	ENSG00000165338	ENST00000446394;ENST00000371681;ENST00000298068	T;T;T	0.58210	0.63;0.35;0.62	5.1	2.55	0.30701	.	0.162188	0.40144	N	0.001165	T	0.60983	0.2311	L	0.59436	1.845	0.80722	D	1	P;P;D	0.76494	0.931;0.931;0.999	P;P;D	0.63283	0.546;0.546;0.913	T	0.58002	-0.7713	10	0.39692	T	0.17	.	8.9045	0.35515	0.7328:0.1879:0.0793:0.0	.	165;165;165	E7ERR3;Q5U5R9;Q5VZ98	.;HECD2_HUMAN;.	F	165	ENSP00000401023:L165F;ENSP00000360746:L165F;ENSP00000298068:L165F	ENSP00000298068:L165F	L	+	3	2	HECTD2	93211078	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.350000	0.44063	0.785000	0.33685	0.383000	0.25322	TTA		0.279	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			40	39	0	0	0	1	0	40	39				
CATSPERD	257062	broad.mit.edu	37	19	5776249	5776249	+	Silent	SNP	C	C	A	rs373584694	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:5776249C>A	ENST00000381624.3	+	21	2080	c.2019C>A	c.(2017-2019)ggC>ggA	p.G673G	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	673					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCTTGGGCGGCCGGACAGCAA	0.542																																						ENST00000381624.3																			0											c.(2017-2019)ggC>ggA		catsper channel auxiliary subunit delta							99.0	103.0	102.0					19																	5776249		1951	4136	6087	SO:0001819	synonymous_variant	257062					integral to membrane		g.chr19:5776249C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.2019C>A	19.37:g.5776249C>A						CATSPERD_ENST00000309164.7_3'UTR	p.G673G	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			21	2080	+			673					Q6ZRP1	Silent	SNP	ENST00000381624.3	37	c.2019C>A	CCDS12149.2																																																																																				0.542	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		42	67	1	0	7.63091e-17	1	1.0001e-16	42	67				
FRG1B	284802	broad.mit.edu	37	20	29631619	29631619	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:29631619A>T	ENST00000278882.3	+	7	795	c.415A>T	c.(415-417)Atc>Ttc	p.I139F	FRG1B_ENST00000358464.4_Missense_Mutation_p.I139F			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	139										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACAATGTGAAATCAATTATGT	0.328																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(415-417)Atc>Ttc																																						SO:0001583	missense	284802							g.chr20:29631619A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.415A>T	20.37:g.29631619A>T	ENSP00000278882:p.Ile139Phe					FRG1B_ENST00000358464.4_Missense_Mutation_p.I139F	p.I139F							7	795	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.415A>T		.	.	.	.	.	.	.	.	.	.	a	10.15	1.270706	0.23221	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	2.03	2.03	0.26663	.	0.168167	0.51477	D	0.000081	T	0.67392	0.2888	.	.	.	0.36846	D	0.887633	D	0.67145	0.996	D	0.63877	0.919	T	0.71517	-0.4569	8	0.49607	T	0.09	.	8.022	0.30415	1.0:0.0:0.0:0.0	.	139	Q9BZ01	FRG1B_HUMAN	F	139	.	ENSP00000278882:I139F	I	+	1	0	FRG1B	28245280	1.000000	0.71417	0.999000	0.59377	0.099000	0.18886	2.119000	0.41958	1.193000	0.43086	0.409000	0.27619	ATC		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		18	20	0	0	0	1	0	18	20				
AK9	221264	broad.mit.edu	37	6	109995439	109995439	+	Missense_Mutation	SNP	C	C	T	rs150756404	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:109995439C>T	ENST00000424296.2	-	3	219	c.143G>A	c.(142-144)cGt>cAt	p.R48H	AK9_ENST00000368948.2_Missense_Mutation_p.R48H|AK9_ENST00000285397.5_Missense_Mutation_p.R48H|AK9_ENST00000341338.6_5'UTR	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	48	Adenylate kinase 1.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TGTTATGTAACGGGCTAATGT	0.294																																						ENST00000424296.2																			0											c.(142-144)cGt>cAt		adenylate kinase 9		C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	54.0	50.0	52.0		143,143	-5.2	0.0	6	dbSNP_134	52	1,8589	1.2+/-3.3	0,1,4294	yes	missense,missense	AKD1	NM_001145128.2,NM_145025.4	29,29	0,3,6495	TT,TC,CC		0.0116,0.0454,0.0231	benign,benign	48/1912,48/422	109995439	3,12993	2203	4295	6498	SO:0001583	missense	221264							g.chr6:109995439C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.143G>A	6.37:g.109995439C>T	ENSP00000410186:p.Arg48His					AK9_ENST00000285397.5_Missense_Mutation_p.R48H|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.R48H	p.R48H	NM_001145128.2	NP_001138600.2					3	219	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.143G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	0.595	-0.831494	0.02713	4.54E-4	1.16E-4	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000532976	T;T;T;T	0.76968	-1.06;-1.06;-1.06;0.83	5.66	-5.17	0.02849	ATPase, AAA+ type, core (1);	1.119030	0.06587	N	0.751312	T	0.32071	0.0817	N	0.05230	-0.09	0.09310	N	0.999999	B;B	0.21309	0.019;0.054	B;B	0.16722	0.002;0.016	T	0.16897	-1.0387	9	.	.	.	0.67	13.1449	0.59456	0.0:0.5192:0.0:0.4808	.	48;48	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	H	48	ENSP00000410186:R48H;ENSP00000357944:R48H;ENSP00000285397:R48H;ENSP00000436325:R48H	.	R	-	2	0	AKD1	110102132	0.001000	0.12720	0.000000	0.03702	0.190000	0.23558	-0.513000	0.06305	-1.052000	0.03222	-0.956000	0.02647	CGT		0.294	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		3	33	0	0	0	1	0	3	33				
SLC5A8	160728	broad.mit.edu	37	12	101588880	101588880	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:101588880C>T	ENST00000536262.2	-	4	1088	c.530G>A	c.(529-531)tGc>tAc	p.C177Y		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TACCAGTGTGCAGTAGAATGT	0.418																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(529-531)tGc>tAc		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8							100.0	87.0	91.0					12																	101588880		2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101588880C>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.530G>A	12.37:g.101588880C>T	ENSP00000445340:p.Cys177Tyr						p.C177Y	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			4	1088	-			177						Missense_Mutation	SNP	ENST00000536262.2	37	c.530G>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640027	0.87760	.	.	ENSG00000256870	ENST00000536262	D	0.87650	-2.28	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94451	0.7667	10	0.72032	D	0.01	.	19.4522	0.94872	0.0:1.0:0.0:0.0	.	177	Q8N695	SC5A8_HUMAN	Y	177	ENSP00000445340:C177Y	ENSP00000445340:C177Y	C	-	2	0	SLC5A8	100113011	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.459000	0.80802	2.599000	0.87857	0.585000	0.79938	TGC		0.418	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		16	19	0	0	0	1	0	16	19				
NBEA	26960	broad.mit.edu	37	13	35733883	35733883	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:35733883G>C	ENST00000400445.3	+	22	4109	c.3575G>C	c.(3574-3576)gGt>gCt	p.G1192A	NBEA_ENST00000540320.1_Missense_Mutation_p.G1192A|NBEA_ENST00000310336.4_Missense_Mutation_p.G1192A|NBEA_ENST00000379939.2_Missense_Mutation_p.G1192A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1192					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CACATGACCGGTAGCGTAGAC	0.363																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(3574-3576)gGt>gCt		neurobeachin							55.0	51.0	52.0					13																	35733883		1905	4133	6038	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35733883G>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.3575G>C	13.37:g.35733883G>C	ENSP00000383295:p.Gly1192Ala					NBEA_ENST00000310336.4_Missense_Mutation_p.G1192A|NBEA_ENST00000400445.3_Missense_Mutation_p.G1192A|NBEA_ENST00000379939.2_Missense_Mutation_p.G1192A	p.G1192A			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	22	4109	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1192					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.3575G>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	5.291	0.239160	0.10023	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.93	3.21	0.36854	.	0.501146	0.23192	N	0.050883	T	0.28234	0.0697	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.08207	-1.0733	10	0.13470	T	0.59	.	17.414	0.87494	0.0:0.3502:0.6498:0.0	.	1192	Q5T321	.	A	1192	ENSP00000440951:G1192A;ENSP00000383295:G1192A;ENSP00000369271:G1192A;ENSP00000308534:G1192A	ENSP00000308534:G1192A	G	+	2	0	NBEA	34631883	0.978000	0.34361	0.076000	0.20297	0.743000	0.42351	3.372000	0.52387	0.380000	0.24823	0.555000	0.69702	GGT		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		12	15	0	0	0	1	0	12	15				
PCDH17	27253	broad.mit.edu	37	13	58208747	58208747	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:58208747C>A	ENST00000377918.3	+	1	2093	c.2067C>A	c.(2065-2067)ccC>ccA	p.P689P		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	689	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GATCCCTTCCCGAGGGGGTAC	0.637																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(2065-2067)ccC>ccA		protocadherin 17							71.0	72.0	72.0					13																	58208747		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208747C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2067C>A	13.37:g.58208747C>A							p.P689P	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2093	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	689			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2067C>A	CCDS31986.1																																																																																				0.637	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		54	75	1	0	1.00221e-16	1	1.31114e-16	54	75				
MYH13	8735	broad.mit.edu	37	17	10227485	10227485	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:10227485A>G	ENST00000418404.3	-	22	2951	c.2788T>C	c.(2788-2790)Ttg>Ctg	p.L930L	MYH13_ENST00000252172.4_Silent_p.L930L|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	930					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTTCCAATCTCTCCGTC	0.453																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(2788-2790)Ttg>Ctg		myosin, heavy chain 13, skeletal muscle							139.0	141.0	141.0					17																	10227485		2079	4222	6301	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10227485A>G	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2788T>C	17.37:g.10227485A>G						MYH13_ENST00000570743.1_Silent_p.L930L|RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L930L	p.L930L			Q9UKX3	MYH13_HUMAN			22	2951	-			930					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.2788T>C	CCDS45613.1																																																																																				0.453	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		85	24	0	0	0	1	0	85	24				
GPR115	221393	broad.mit.edu	37	6	47681656	47681656	+	Silent	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:47681656C>A	ENST00000283303.2	+	6	933	c.675C>A	c.(673-675)ctC>ctA	p.L225L	GPR115_ENST00000327753.3_Silent_p.L225L|GPR115_ENST00000371220.1_Silent_p.L282L|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	225					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CCAGACAACTCCACATCCACA	0.408																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2																			0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(673-675)ctC>ctA		G protein-coupled receptor 115							99.0	94.0	96.0					6																	47681656		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681656C>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.675C>A	6.37:g.47681656C>A						GPR115_ENST00000371220.1_Silent_p.L282L|GPR115_ENST00000327753.3_Silent_p.L225L	p.L225L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN			6	933	+			225					B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.675C>A	CCDS4922.2																																																																																				0.408	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		37	83	1	0	3.3946e-10	1	3.97762e-10	37	83				
ERCC6	2074	broad.mit.edu	37	10	50690871	50690871	+	Silent	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:50690871C>G	ENST00000355832.5	-	10	2109	c.2031G>C	c.(2029-2031)ccG>ccC	p.P677P	ERCC6_ENST00000542458.1_Silent_p.P47P	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	677	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TATTTTGCATCGGTGAGCCAG	0.473								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2029-2031)ccG>ccC	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							102.0	97.0	98.0					10																	50690871		2203	4300	6503	SO:0001819	synonymous_variant	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50690871C>G	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2031G>C	10.37:g.50690871C>G						ERCC6_ENST00000542458.1_Silent_p.P47P	p.P677P	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			10	2109	-			677			Helicase ATP-binding.		D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	c.2031G>C	CCDS7229.1																																																																																				0.473	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		33	39	0	0	0	1	0	33	39				
NLRP14	338323	broad.mit.edu	37	11	7064078	7064078	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:7064078C>A	ENST00000299481.4	+	4	1167	c.821C>A	c.(820-822)gCa>gAa	p.A274E		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	274	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCTGAGTTTGCACTGTGCGAA	0.458																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(820-822)gCa>gAa		NLR family, pyrin domain containing 14							100.0	96.0	98.0					11																	7064078		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064078C>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.821C>A	11.37:g.7064078C>A	ENSP00000299481:p.Ala274Glu						p.A274E	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1167	+			274			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.821C>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462362	0.26248	.	.	ENSG00000158077	ENST00000299481	T	0.70749	-0.51	4.57	-1.29	0.09288	NACHT nucleoside triphosphatase (1);	0.653529	0.13519	N	0.381873	T	0.47655	0.1457	N	0.04297	-0.235	0.09310	N	1	P	0.52577	0.954	P	0.54706	0.759	T	0.51364	-0.8715	10	0.02654	T	1	.	3.9911	0.09537	0.153:0.5498:0.0:0.2972	.	274	Q86W24	NAL14_HUMAN	E	274	ENSP00000299481:A274E	ENSP00000299481:A274E	A	+	2	0	NLRP14	7020654	0.020000	0.18652	0.189000	0.23252	0.809000	0.45718	-0.064000	0.11636	-0.024000	0.13941	0.655000	0.94253	GCA		0.458	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		53	33	1	0	6.4308e-24	1	8.97607e-24	53	33				
PTPRD	5789	broad.mit.edu	37	9	8341964	8341964	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:8341964C>G	ENST00000381196.4	-	37	5219	c.4676G>C	c.(4675-4677)cGg>cCg	p.R1559P	PTPRD_ENST00000356435.5_Missense_Mutation_p.R1559P|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1152P|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1149P|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1149P|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1546P|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1537P|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1153P|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1152P|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1152P|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1559P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1559	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCAACCAGTCCGGCCAACTCC	0.343										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(4675-4677)cGg>cCg		protein tyrosine phosphatase, receptor type, D							50.0	51.0	51.0					9																	8341964		2203	4299	6502	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8341964C>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4676G>C	9.37:g.8341964C>G	ENSP00000370593:p.Arg1559Pro	TSP Lung(15;0.13)				PTPRD_ENST00000356435.5_Missense_Mutation_p.R1559P|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1559P|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1153P|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1149P|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1152P|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1152P|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1152P|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1546P|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1537P|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1149P	p.R1559P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	37	5219	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1559			Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.4676G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858457	0.51376	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92802	0.7711	H	0.99042	4.41	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.998;0.998;1.0;0.997;1.0;0.998;1.0	D	0.94795	0.7965	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1152;1143;1152;1153;1149;1149;1546;1559;1559	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	P	1559;1559;1546;1537;1153;1152;1149;1149;1030;1559;1152;1152	ENSP00000370593:R1559P;ENSP00000348812:R1559P;ENSP00000353187:R1546P;ENSP00000351293:R1537P;ENSP00000347373:R1153P;ENSP00000380741:R1152P;ENSP00000380735:R1149P;ENSP00000440515:R1149P;ENSP00000438164:R1559P;ENSP00000417093:R1152P;ENSP00000380731:R1152P	.	R	-	2	0	PTPRD	8331964	1.000000	0.71417	1.000000	0.80357	0.061000	0.15899	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	CGG		0.343	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			28	22	0	0	0	1	0	28	22				
SLC22A2	6582	broad.mit.edu	37	6	160670390	160670390	+	Silent	SNP	G	G	T	rs368105668		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:160670390G>T	ENST00000366953.3	-	4	958	c.700C>A	c.(700-702)Cgg>Agg	p.R234R	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Silent_p.R213R	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	234					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ACTGTTCTCCGATATCTCCGC	0.458																																						ENST00000366952.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(637-639)Cgg>Agg		solute carrier family 22 (organic cation transporter), member 2							134.0	123.0	127.0					6																	160670390		2203	4300	6503	SO:0001819	synonymous_variant	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160670390G>T	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.700C>A	6.37:g.160670390G>T						SLC22A2_ENST00000366953.3_Silent_p.R234R|SLC22A2_ENST00000491092.1_5'UTR	p.R213R			O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	6	2118	-		Breast(66;0.000776)|Ovarian(120;0.0303)	234					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Silent	SNP	ENST00000366953.3	37	c.637C>A	CCDS5276.1																																																																																				0.458	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		46	109	1	0	2.69774e-35	1	3.97849e-35	46	109				
SMC1B	27127	broad.mit.edu	37	22	45758803	45758803	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:45758803T>G	ENST00000357450.4	-	16	2523	c.2524A>C	c.(2524-2526)Atc>Ctc	p.I842L	SMC1B_ENST00000404354.3_Missense_Mutation_p.I842L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	842					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCTTTCTGGATAGTTTCTTTT	0.333																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2524-2526)Atc>Ctc		structural maintenance of chromosomes 1B							174.0	161.0	165.0					22																	45758803		1850	4087	5937	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45758803T>G	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2524A>C	22.37:g.45758803T>G	ENSP00000350036:p.Ile842Leu					SMC1B_ENST00000404354.3_Missense_Mutation_p.I842L	p.I842L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	16	2523	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	842					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2524A>C	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.575708	0.28092	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.77620	-1.11;-1.01	4.71	-2.88	0.05682	.	0.445516	0.18806	N	0.130649	T	0.50667	0.1629	L	0.27053	0.805	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.17433	0.018;0.007	T	0.44452	-0.9327	10	0.05525	T	0.97	.	1.6497	0.02769	0.1195:0.2874:0.2705:0.3227	.	842;842	Q8NDV3-2;Q8NDV3-3	.;.	L	842	ENSP00000350036:I842L;ENSP00000385902:I842L	ENSP00000350036:I842L	I	-	1	0	SMC1B	44137467	0.000000	0.05858	0.282000	0.24776	0.904000	0.53231	-2.288000	0.01150	-0.635000	0.05531	0.260000	0.18958	ATC		0.333	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		23	19	0	0	0	1	0	23	19				
COL22A1	169044	broad.mit.edu	37	8	139706751	139706751	+	Splice_Site	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:139706751C>A	ENST00000303045.6	-	34	3146	c.2700G>T	c.(2698-2700)ccG>ccT	p.P900P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.P900P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	900	Collagen-like 7.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTTTTCTTACCGGTGGTCCAG	0.597										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.e34+1		collagen, type XXII, alpha 1							107.0	99.0	102.0					8																	139706751		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139706751C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2700+1G>T	8.37:g.139706751C>A		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Splice_Site_p.P900_splice|COL22A1_ENST00000341807.4_5'UTR	p.P900_splice	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		34	3146	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		900			Collagen-like 7.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.2700_splice	CCDS6376.1																																																																																				0.597	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Silent	43	60	1	0	8.20599e-20	1	1.10933e-19	43	60				
SCN9A	6335	broad.mit.edu	37	2	167089972	167089972	+	Splice_Site	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:167089972C>T	ENST00000409435.1	-	20	3801	c.3802G>A	c.(3802-3804)Gtt>Att	p.V1268I	SCN9A_ENST00000303354.6_Splice_Site_p.V1269I|SCN9A_ENST00000409672.1_Splice_Site_p.V1257I|SCN9A_ENST00000375387.4_Splice_Site_p.V1269I|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1268					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCAAAGAAACCTATAAAAAT	0.358																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.e21-1		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						41.0	40.0	40.0					2																	167089972		1845	4110	5955	SO:0001630	splice_region_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167089972C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3802-1G>A	2.37:g.167089972C>T						SCN9A_ENST00000409435.1_Splice_Site_p.V1268_splice|SCN9A_ENST00000303354.6_Splice_Site_p.V1269_splice|SCN9A_ENST00000409672.1_Splice_Site_p.V1257_splice|AC010127.3_ENST00000447809.2_RNA	p.V1269_splice			Q15858	SCN9A_HUMAN			21	4145	-			1268					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Splice_Site	SNP	ENST00000409435.1	37	c.3804_splice	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198407	0.79015	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000020	D	0.97096	0.9051	L	0.41710	1.295	0.53688	D	0.999971	D	0.65815	0.995	D	0.71870	0.975	D	0.96490	0.9363	10	0.46703	T	0.11	.	13.1274	0.59363	0.0:0.9271:0.0:0.0729	.	1257	E7EUN6	.	I	1257;1269;1269;1268	ENSP00000386306:V1257I;ENSP00000364536:V1269I;ENSP00000304748:V1269I;ENSP00000386330:V1268I	ENSP00000304748:V1269I	V	-	1	0	SCN9A	166798218	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.941000	0.63540	2.702000	0.92279	0.650000	0.86243	GTT		0.358	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	Missense_Mutation	11	15	0	0	0	1	0	11	15				
DLC1	10395	broad.mit.edu	37	8	12956894	12956894	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:12956894C>A	ENST00000276297.4	-	9	3361	c.2952G>T	c.(2950-2952)agG>agT	p.R984S	DLC1_ENST00000358919.2_Missense_Mutation_p.R547S|DLC1_ENST00000520226.1_Missense_Mutation_p.R473S|DLC1_ENST00000512044.2_Missense_Mutation_p.R581S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	984					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCCCAGAATCCCTTCTTTCCG	0.582																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2950-2952)agG>agT		deleted in liver cancer 1							68.0	74.0	72.0					8																	12956894		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12956894C>A	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2952G>T	8.37:g.12956894C>A	ENSP00000276297:p.Arg984Ser					DLC1_ENST00000358919.2_Missense_Mutation_p.R547S|DLC1_ENST00000512044.2_Missense_Mutation_p.R581S|DLC1_ENST00000520226.1_Missense_Mutation_p.R473S	p.R984S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	3361	-			984					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2952G>T	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808948	0.50421	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07800	3.42;3.18;3.17;3.16	5.47	1.3	0.21679	.	0.000000	0.85682	D	0.000000	T	0.20536	0.0494	M	0.64567	1.98	0.80722	D	1	B;D;D	0.71674	0.11;0.998;0.976	B;D;P	0.66847	0.064;0.947;0.6	T	0.00177	-1.1952	10	0.62326	D	0.03	.	9.8943	0.41309	0.0:0.5559:0.0:0.4441	.	984;581;547	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	S	984;547;581;473	ENSP00000276297:R984S;ENSP00000351797:R547S;ENSP00000422595:R581S;ENSP00000428028:R473S	ENSP00000276297:R984S	R	-	3	2	DLC1	13001265	0.739000	0.28196	0.991000	0.47740	0.959000	0.62525	-0.090000	0.11163	0.024000	0.15214	0.655000	0.94253	AGG		0.582	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		34	28	1	0	4.3181e-19	1	5.79451e-19	34	28				
KCNT2	343450	broad.mit.edu	37	1	196397339	196397339	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:196397339G>T	ENST00000294725.9	-	10	1795	c.880C>A	c.(880-882)Cat>Aat	p.H294N	KCNT2_ENST00000367433.5_Missense_Mutation_p.H294N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.H294N|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Missense_Mutation_p.H294N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	294					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TGAGCTCTATGTCGACTATAG	0.368																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(880-882)Cat>Aat		potassium channel, subfamily T, member 2							134.0	122.0	126.0					1																	196397339		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196397339G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.880C>A	1.37:g.196397339G>T	ENSP00000294725:p.His294Asn					KCNT2_ENST00000367431.4_Missense_Mutation_p.H294N|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.8_Missense_Mutation_p.H294N	p.H294N			Q6UVM3	KCNT2_HUMAN			10	981	-			294					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.880C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468101	0.43839	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000294725	T;T;T	0.24151	1.87;1.87;1.87	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000005	T	0.25606	0.0623	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.25850	0.136;0.033;0.001;0.136	B;B;B;B	0.24394	0.053;0.043;0.037;0.053	T	0.02238	-1.1190	10	0.27785	T	0.31	-21.8516	15.0402	0.71785	0.0695:0.0:0.9305:0.0	.	294;294;294;294	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	N	294;294;115;294	ENSP00000356403:H294N;ENSP00000356401:H294N;ENSP00000294725:H294N	ENSP00000294725:H294N	H	-	1	0	KCNT2	194663962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.238000	0.58688	2.721000	0.93114	0.655000	0.94253	CAT		0.368	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		48	29	1	0	1.22102e-19	1	1.64758e-19	48	29				
IMPG2	50939	broad.mit.edu	37	3	100961570	100961570	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:100961570T>C	ENST00000193391.7	-	14	3171	c.2984A>G	c.(2983-2985)aAc>aGc	p.N995S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	995	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AATAGCCAAGTTCATGGTATT	0.393																																						ENST00000193391.7																			0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2983-2985)aAc>aGc		interphotoreceptor matrix proteoglycan 2							190.0	173.0	178.0					3																	100961570		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100961570T>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2984A>G	3.37:g.100961570T>C	ENSP00000193391:p.Asn995Ser						p.N995S	NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN			14	3171	-			995			SEA 2.		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2984A>G	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364883	0.82463	.	.	ENSG00000081148	ENST00000193391	T	0.32988	1.43	5.07	5.07	0.68467	SEA (2);	0.000000	0.64402	D	0.000001	T	0.54159	0.1841	M	0.66939	2.045	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.58228	-0.7673	10	0.72032	D	0.01	-13.6314	15.1411	0.72612	0.0:0.0:0.0:1.0	.	995;995	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	S	995	ENSP00000193391:N995S	ENSP00000193391:N995S	N	-	2	0	IMPG2	102444260	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.568000	0.82369	2.038000	0.60285	0.460000	0.39030	AAC		0.393	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			23	99	0	0	0	1	0	23	99				
ZNF202	7753	broad.mit.edu	37	11	123601242	123601242	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:123601242T>C	ENST00000529691.1	-	2	574	c.355A>G	c.(355-357)Acg>Gcg	p.T119A	ZNF202_ENST00000530393.1_Missense_Mutation_p.T119A|ZNF202_ENST00000336139.4_Missense_Mutation_p.T119A			O95125	ZN202_HUMAN	zinc finger protein 202	119	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCCACCAGCGTCACTGCCTCC	0.582																																						ENST00000336139.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(355-357)Acg>Gcg		zinc finger protein 202							112.0	104.0	107.0					11																	123601242		2202	4299	6501	SO:0001583	missense	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123601242T>C	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.355A>G	11.37:g.123601242T>C	ENSP00000433881:p.Thr119Ala					ZNF202_ENST00000530393.1_Missense_Mutation_p.T119A|ZNF202_ENST00000529691.1_Missense_Mutation_p.T119A	p.T119A			O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	3	717	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	119			SCAN box.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	c.355A>G	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295812	0.60086	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	4.57	4.57	0.56435	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.49305	D	0.000147	T	0.07999	0.0200	N	0.10809	0.05	0.35525	D	0.801809	D	0.61080	0.989	P	0.61533	0.89	T	0.49495	-0.8934	10	0.15952	T	0.53	-12.2349	11.9487	0.52942	0.0:0.0:0.0:1.0	.	119	O95125	ZN202_HUMAN	A	119	ENSP00000337724:T119A;ENSP00000432504:T119A;ENSP00000433881:T119A;ENSP00000431223:T119A	ENSP00000337724:T119A	T	-	1	0	ZNF202	123106452	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.711000	0.37930	1.920000	0.55613	0.374000	0.22700	ACG		0.582	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		18	141	0	0	0	1	0	18	141				
COL9A1	1297	broad.mit.edu	37	6	70926676	70926676	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:70926676A>T	ENST00000357250.6	-	38	2848	c.2690T>A	c.(2689-2691)cTt>cAt	p.L897H	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.L654H|COL9A1_ENST00000320755.7_Missense_Mutation_p.L654H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	897	Collagen-like 10.|Triple-helical region (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GAAACCGGGAAGCCCAGGAGG	0.632																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(2689-2691)cTt>cAt		collagen, type IX, alpha 1							38.0	45.0	42.0					6																	70926676		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70926676A>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2690T>A	6.37:g.70926676A>T	ENSP00000349790:p.Leu897His					COL9A1_ENST00000370499.4_Missense_Mutation_p.L654H|COL9A1_ENST00000320755.7_Missense_Mutation_p.L654H|COL9A1_ENST00000489611.1_5'UTR	p.L897H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			38	2848	-			897			Triple-helical region (COL1).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.2690T>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.791106	0.31685	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.94417	-3.42;-3.42;-3.42	5.87	1.94	0.25998	.	0.322766	0.33834	N	0.004520	D	0.93609	0.7959	M	0.71871	2.18	0.32270	N	0.568978	D;D;P	0.76494	0.999;0.997;0.56	D;P;P	0.71870	0.975;0.896;0.621	D	0.89310	0.3632	10	0.24483	T	0.36	.	9.5591	0.39357	0.2876:0.0:0.7124:0.0	.	897;654;446	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	H	897;654;654	ENSP00000349790:L897H;ENSP00000315252:L654H;ENSP00000359530:L654H	ENSP00000315252:L654H	L	-	2	0	COL9A1	70983397	1.000000	0.71417	0.994000	0.49952	0.377000	0.30045	2.771000	0.47670	0.055000	0.16094	-0.353000	0.07706	CTT		0.632	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			26	44	0	0	0	1	0	26	44				
TBC1D24	57465	broad.mit.edu	37	16	2550805	2550805	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:2550805G>T	ENST00000293970.5	+	8	1659	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	TBC1D24_ENST00000434757.2_Splice_Site_p.G509V|TBC1D24_ENST00000567020.1_Splice_Site_p.G503V|RP11-20I23.1_ENST00000564543.1_Intron	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	509	TLD.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CATCCTGCAGGGGGAGGAGGC	0.662																																						ENST00000567020.1																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						c.e7-1		TBC1 domain family, member 24							27.0	35.0	32.0					16																	2550805		2156	4235	6391	SO:0001630	splice_region_variant	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2550805G>T	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.1526-1G>T	16.37:g.2550805G>T						RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Splice_Site_p.G509_splice|TBC1D24_ENST00000293970.5_Splice_Site_p.G509_splice	p.G503_splice	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN			7	1648	+			509			TLD.		A0JNW3|B9A6M6|Q2KJ08	Splice_Site	SNP	ENST00000293970.5	37	c.1507_splice	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052837	0.75960	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	D	0.96459	-4.02	5.79	5.79	0.91817	TLDc (2);	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99494	1.0951	9	.	.	.	.	18.6215	0.91322	0.0:0.0:1.0:0.0	.	509;503	Q9ULP9;Q9ULP9-2	TBC24_HUMAN;.	V	503;509	ENSP00000390106:G509V	.	G	+	2	0	TBC1D24	2490806	1.000000	0.71417	0.990000	0.47175	0.222000	0.24845	9.365000	0.97139	2.731000	0.93534	0.650000	0.86243	GGG		0.662	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705	Missense_Mutation	5	25	1	0	5.9392e-07	1	6.57908e-07	5	25				
CATSPERD	257062	broad.mit.edu	37	19	5772918	5772918	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:5772918C>T	ENST00000381624.3	+	20	1944	c.1883C>T	c.(1882-1884)cCg>cTg	p.P628L	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	628					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											ACCTCCCAGCCGCAGAACTGG	0.557																																						ENST00000381624.3																			0											c.(1882-1884)cCg>cTg		catsper channel auxiliary subunit delta							51.0	55.0	54.0					19																	5772918		1946	4149	6095	SO:0001583	missense	257062					integral to membrane		g.chr19:5772918C>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1883C>T	19.37:g.5772918C>T	ENSP00000371037:p.Pro628Leu					CATSPERD_ENST00000309164.7_3'UTR	p.P628L	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			20	1944	+			628					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.1883C>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603872	0.46423	.	.	ENSG00000174898	ENST00000381624;ENST00000381613	T	0.26810	1.71	3.22	3.22	0.36961	.	0.616392	0.13463	N	0.385961	T	0.42877	0.1222	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.32666	-0.9898	10	0.72032	D	0.01	-24.1914	10.1765	0.42941	0.0:1.0:0.0:0.0	.	628	Q86XM0	TM146_HUMAN	L	628;297	ENSP00000371037:P628L	ENSP00000371026:P297L	P	+	2	0	TMEM146	5723918	0.963000	0.33076	0.895000	0.35142	0.342000	0.28953	2.879000	0.48522	2.105000	0.64084	0.561000	0.74099	CCG		0.557	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		38	65	0	0	0	1	0	38	65				
PMFBP1	83449	broad.mit.edu	37	16	72154044	72154044	+	Missense_Mutation	SNP	C	C	T	rs552261340		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:72154044C>T	ENST00000355636.6	-	20	2951	c.2338G>A	c.(2338-2340)Gaa>Aaa	p.E780K	PMFBP1_ENST00000537465.1_Intron|PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000537792.1_Intron	NM_001160213.1	NP_001153685.1	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	928						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTGGTTGGTTCCCTGCTAGAA	0.532																																						ENST00000355636.6																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(2338-2340)Gaa>Aaa		polyamine modulated factor 1 binding protein 1							265.0	286.0	280.0					16																	72154044		692	1591	2283	SO:0001583	missense	83449							g.chr16:72154044C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000355636.6:c.2338G>A	16.37:g.72154044C>T	ENSP00000347854:p.Glu780Lys					PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000537465.1_Intron|PMFBP1_ENST00000537792.1_Intron	p.E780K	NM_001160213.1	NP_001153685.1	Q8TBY8	PMFBP_HUMAN			20	2951	-		Ovarian(137;0.179)	928					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000355636.6	37	c.2338G>A		.	.	.	.	.	.	.	.	.	.	C	16.02	3.005375	0.54254	.	.	ENSG00000118557	ENST00000355636	T	0.12039	2.72	3.87	0.37	0.16160	.	.	.	.	.	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.44128	-0.9348	6	.	.	.	.	6.7995	0.23744	0.0:0.5579:0.3375:0.1045	.	.	.	.	K	780	ENSP00000347854:E780K	.	E	-	1	0	PMFBP1	70711545	0.000000	0.05858	0.003000	0.11579	0.087000	0.18053	-0.098000	0.11024	0.368000	0.24481	0.467000	0.42956	GAA		0.532	PMFBP1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_031293		55	37	0	0	0	1	0	55	37				
MYCBPAP	84073	broad.mit.edu	37	17	48586068	48586068	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:48586068A>G	ENST00000323776.5	+	1	324	c.162A>G	c.(160-162)agA>agG	p.R54R	MYCBPAP_ENST00000436259.2_Silent_p.R17R|RP11-94C24.6_ENST00000502300.1_lincRNA|MYCBPAP_ENST00000419930.1_Silent_p.R54R	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCCGCCTCAGAATAACTCCGA	0.622																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(160-162)agA>agG		MYCBP associated protein							23.0	23.0	23.0					17																	48586068		2203	4300	6503	SO:0001819	synonymous_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48586068A>G	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.162A>G	17.37:g.48586068A>G						MYCBPAP_ENST00000436259.2_Silent_p.R17R|MYCBPAP_ENST00000419930.1_Silent_p.R54R	p.R54R	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		1	324	+	Breast(11;1.23e-18)		17						Silent	SNP	ENST00000323776.5	37	c.162A>G	CCDS32680.2																																																																																				0.622	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		11	8	0	0	0	1	0	11	8				
ATP8A2	51761	broad.mit.edu	37	13	26112196	26112196	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:26112196C>T	ENST00000381655.2	+	7	720	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.S153F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	153					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCTGTCATCCAGGTTAGCT	0.493																																						ENST00000381655.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(577-579)tCc>tTc		ATPase, aminophospholipid transporter, class I, type 8A, member 2							114.0	113.0	114.0					13																	26112196		1999	4182	6181	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26112196C>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.578C>T	13.37:g.26112196C>T	ENSP00000371070:p.Ser193Phe					ATP8A2_ENST00000255283.8_Missense_Mutation_p.S153F	p.S193F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	7	720	+		Breast(139;0.0201)|Lung SC(185;0.0225)	153					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.578C>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720815	0.68959	.	.	ENSG00000132932	ENST00000381655;ENST00000255283	T;T	0.77358	-1.09;-1.09	6.15	6.15	0.99193	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.050271	0.85682	D	0.000000	D	0.94013	0.8082	H	0.99090	4.425	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.79108	0.992;0.952;0.992	D	0.95577	0.8643	10	0.87932	D	0	.	20.8387	0.99724	0.0:1.0:0.0:0.0	.	153;153;153	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	F	193;153	ENSP00000371070:S193F;ENSP00000255283:S153F	ENSP00000255283:S153F	S	+	2	0	ATP8A2	25010196	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	7.700000	0.84556	2.932000	0.99384	0.643000	0.83706	TCC		0.493	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		20	19	0	0	0	1	0	20	19				
USP38	84640	broad.mit.edu	37	4	144135059	144135059	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:144135059G>T	ENST00000307017.4	+	9	2436	c.1930G>T	c.(1930-1932)Ggt>Tgt	p.G644C	USP38_ENST00000510377.1_Missense_Mutation_p.G644C	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	644	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ACAAGATGGTGGTCTAATGCA	0.438																																						ENST00000307017.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33						c.(1930-1932)Ggt>Tgt		ubiquitin specific peptidase 38							161.0	176.0	171.0					4																	144135059		2203	4300	6503	SO:0001583	missense	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144135059G>T	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.1930G>T	4.37:g.144135059G>T	ENSP00000303434:p.Gly644Cys					USP38_ENST00000510377.1_Missense_Mutation_p.G644C	p.G644C	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN			9	2436	+	all_hematologic(180;0.158)		644					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	c.1930G>T	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	G	5.561	0.288427	0.10513	.	.	ENSG00000170185	ENST00000510377;ENST00000307017	T;T	0.08896	3.04;3.05	4.99	2.07	0.26955	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.679876	0.13776	N	0.363576	T	0.14485	0.0350	L	0.42245	1.32	0.09310	N	1	D;D	0.63046	0.992;0.992	P;P	0.59948	0.796;0.866	T	0.09818	-1.0657	10	0.54805	T	0.06	-11.8562	5.596	0.17327	0.2481:0.0:0.5755:0.1764	.	644;644	Q8NB14;Q3ZCV1	UBP38_HUMAN;.	C	644	ENSP00000427647:G644C;ENSP00000303434:G644C	ENSP00000303434:G644C	G	+	1	0	USP38	144354509	0.012000	0.17670	0.002000	0.10522	0.063000	0.16089	1.271000	0.33098	0.691000	0.31592	0.585000	0.79938	GGT		0.438	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		109	218	1	0	8.11351e-46	1	1.20875e-45	109	218				
TUBBP5	643224	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs376870088		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196									tubulin, beta pseudogene 5									p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687																																						ENST00000503395.1																			1	Substitution - Missense(1)	p.R77H(1)	urinary_tract(1)																																																643224							g.chr9:141070116G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070116G>A														0	1196	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.687	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		8	86	0	0	0	1	0	8	86				
IFRD1	3475	broad.mit.edu	37	7	112102225	112102225	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:112102225A>T	ENST00000403825.3	+	7	1049	c.788A>T	c.(787-789)aAg>aTg	p.K263M	IFRD1_ENST00000535603.1_Missense_Mutation_p.K213M|IFRD1_ENST00000005558.4_Missense_Mutation_p.K263M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	263					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GTGAAGAAAAAGCTTGAGATG	0.333																																						ENST00000403825.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						c.(787-789)aAg>aTg		interferon-related developmental regulator 1							106.0	104.0	105.0					7																	112102225		2203	4300	6503	SO:0001583	missense	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112102225A>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.788A>T	7.37:g.112102225A>T	ENSP00000384477:p.Lys263Met					IFRD1_ENST00000535603.1_Missense_Mutation_p.K213M|IFRD1_ENST00000005558.4_Missense_Mutation_p.K263M	p.K263M	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN			7	1049	+			263					B7Z5G1|O75234|Q5U013|Q9BVE4	Missense_Mutation	SNP	ENST00000403825.3	37	c.788A>T	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.600381	0.46423	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000535603	T;T;T	0.64618	-0.11;-0.11;-0.11	5.54	3.09	0.35607	Interferon-related developmental regulator, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.217396	0.47455	D	0.000221	T	0.52533	0.1740	L	0.34521	1.04	0.46203	D	0.998924	B	0.27416	0.178	B	0.36134	0.218	T	0.46925	-0.9156	10	0.46703	T	0.11	-11.9279	9.219	0.37364	0.8417:0.0:0.1583:0.0	.	263	O00458	IFRD1_HUMAN	M	263;263;213	ENSP00000005558:K263M;ENSP00000384477:K263M;ENSP00000439188:K213M	ENSP00000005558:K263M	K	+	2	0	IFRD1	111889461	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.397000	0.52572	0.444000	0.26612	0.533000	0.62120	AAG		0.333	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		13	34	0	0	0	1	0	13	34				
FAM66D	100132923	broad.mit.edu	37	8	11986694	11986694	+	RNA	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:11986694G>T	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		TGACTTCTCAGGGAGAGAAGT	0.522																																						ENST00000434078.2																			0																																																			100132923							g.chr8:11986694G>T			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986694G>T								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.522	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		41	199	1	0	6.86731e-36	1	1.0148e-35	41	199				
ZC3H12C	85463	broad.mit.edu	37	11	110035858	110035858	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:110035858C>G	ENST00000278590.3	+	6	2099	c.2048C>G	c.(2047-2049)cCc>cGc	p.P683R	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.P652R|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P684R	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	683							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTCCACGACCCCTTAACCAGA	0.557																																						ENST00000453089.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1954-1956)cCc>cGc		zinc finger CCCH-type containing 12C							183.0	201.0	195.0					11																	110035858		2061	4203	6264	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035858C>G		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2048C>G	11.37:g.110035858C>G	ENSP00000278590:p.Pro683Arg					ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P683R|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P684R	p.P652R			Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2836	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	683					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.1955C>G	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.055929	0.55325	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.34275	1.37;1.37;1.4	6.04	6.04	0.98038	.	0.189686	0.45606	D	0.000344	T	0.42268	0.1195	L	0.45581	1.43	0.44927	D	0.997943	P;P;P	0.43477	0.664;0.808;0.664	B;B;B	0.43508	0.296;0.422;0.296	T	0.29243	-1.0018	10	0.87932	D	0	-10.0824	20.5792	0.99380	0.0:1.0:0.0:0.0	.	684;683;683	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	R	683;684;652	ENSP00000278590:P683R;ENSP00000431821:P684R;ENSP00000413094:P652R	ENSP00000278590:P683R	P	+	2	0	ZC3H12C	109541068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.763000	0.68818	2.873000	0.98535	0.561000	0.74099	CCC		0.557	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		105	277	0	0	0	1	0	105	277				
PARP1	142	broad.mit.edu	37	1	226578208	226578208	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:226578208G>T	ENST00000366794.5	-	4	663	c.520C>A	c.(520-522)Ccc>Acc	p.P174T		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	174					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTGTACTCGGGCCGGAAACCC	0.562								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(520-522)Ccc>Acc	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							70.0	64.0	66.0					1																	226578208		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226578208G>T	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.520C>A	1.37:g.226578208G>T	ENSP00000355759:p.Pro174Thr						p.P174T	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	4	663	-	Breast(184;0.133)		174					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.520C>A	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207894	0.39003	.	.	ENSG00000143799	ENST00000432338;ENST00000366794	T	0.26957	1.7	5.13	5.13	0.70059	Zinc finger, PARP-type (3);	0.100013	0.64402	D	0.000001	T	0.32255	0.0823	M	0.76002	2.32	0.80722	D	1	B	0.12013	0.005	B	0.18263	0.021	T	0.09079	-1.0691	10	0.45353	T	0.12	.	14.6673	0.68918	0.0:0.0:0.8541:0.1459	.	174	P09874	PARP1_HUMAN	T	174	ENSP00000355759:P174T	ENSP00000355759:P174T	P	-	1	0	PARP1	224644831	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.132000	0.57977	2.523000	0.85059	0.655000	0.94253	CCC		0.562	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		56	47	1	0	5.73376e-24	1	8.01847e-24	56	47				
CBWD5	220869	broad.mit.edu	37	9	70490056	70490056	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:70490056C>T	ENST00000382405.3	-	1	190	c.13G>A	c.(13-15)Gtt>Att	p.V5I	CBWD5_ENST00000430059.2_Missense_Mutation_p.V5I|CBWD5_ENST00000377392.5_5'Flank|CBWD5_ENST00000429800.2_Missense_Mutation_p.V5I|CBWD5_ENST00000377384.1_Missense_Mutation_p.V5I|CBWD5_ENST00000377395.4_Missense_Mutation_p.V5I			Q5RIA9	CBWD5_HUMAN	COBW domain containing 5	5							ATP binding (GO:0005524)								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		ACAGATCCAACAGCCGGTAAC	0.612																																						ENST00000382405.3																			0											c.(13-15)Gtt>Att		COBW domain containing 5							71.0	81.0	78.0					9																	70490056		2196	4296	6492	SO:0001583	missense	220869						ATP binding	g.chr9:70490056C>T	BC067803, BC082271	CCDS75841.1, CCDS75843.1, CCDS75844.1	9q13	2005-08-23			ENSG00000147996	ENSG00000147996			24584	protein-coding gene	gene with protein product	"""dopamine responsive protein"""						Standard	XM_005272748		Approved		uc004ack.3	Q5RIA9	OTTHUMG00000013336	ENST00000382405.3:c.13G>A	9.37:g.70490056C>T	ENSP00000371842:p.Val5Ile					CBWD5_ENST00000430059.2_Missense_Mutation_p.V5I|CBWD5_ENST00000377395.4_Missense_Mutation_p.V5I|CBWD5_ENST00000429800.2_Missense_Mutation_p.V5I|CBWD5_ENST00000377384.1_Missense_Mutation_p.V5I	p.V5I			Q5RIA9	CBWD5_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	1	190	-			5					Q8N7U8	Missense_Mutation	SNP	ENST00000382405.3	37	c.13G>A		.	.	.	.	.	.	.	.	.	.	.	11.57	1.679198	0.29783	.	.	ENSG00000147996	ENST00000382405;ENST00000377395;ENST00000430059;ENST00000429800;ENST00000377384	T;T;T;T;T	0.42131	3.16;3.16;3.16;3.15;0.98	3.14	-1.48	0.08745	.	1.973580	0.02785	N	0.121435	T	0.25306	0.0615	N	0.14661	0.345	0.09310	N	0.999996	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.22800	-1.0206	10	0.56958	D	0.05	-14.7404	3.6108	0.08060	0.0:0.4306:0.1946:0.3748	.	5;5;5	B4DNG9;Q5RIA9-3;Q5RIA9	.;.;CBWD5_HUMAN	I	5	ENSP00000371842:V5I;ENSP00000366612:V5I;ENSP00000397999:V5I;ENSP00000405076:V5I;ENSP00000366601:V5I	ENSP00000366601:V5I	V	-	1	0	CBWD5	69729876	0.000000	0.05858	0.000000	0.03702	0.108000	0.19459	-4.334000	0.00251	-0.169000	0.10834	0.393000	0.25936	GTT		0.612	CBWD5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000037131.2			56	113	0	0	0	1	0	56	113				
ELTD1	64123	broad.mit.edu	37	1	79392735	79392735	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:79392735G>T	ENST00000370742.3	-	8	982	c.919C>A	c.(919-921)Cct>Act	p.P307T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	307					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GAAAGCAAAGGACCAATACTC	0.294																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(919-921)Cct>Act		EGF, latrophilin and seven transmembrane domain containing 1							71.0	66.0	68.0					1																	79392735		1803	4077	5880	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79392735G>T	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.919C>A	1.37:g.79392735G>T	ENSP00000359778:p.Pro307Thr						p.P307T	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	8	982	-			307					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.919C>A	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.456221	0.26161	.	.	ENSG00000162618	ENST00000370742	T	0.09445	2.98	6.02	3.01	0.34805	Domain of unknown function DUF3497 (1);	0.454723	0.26665	N	0.023137	T	0.02767	0.0083	L	0.44542	1.39	0.23616	N	0.997287	B	0.14805	0.011	B	0.23275	0.045	T	0.38067	-0.9678	9	.	.	.	.	4.4228	0.11488	0.257:0.3657:0.3773:0.0	.	307	Q9HBW9	ELTD1_HUMAN	T	307	ENSP00000359778:P307T	.	P	-	1	0	ELTD1	79165323	0.776000	0.28616	0.994000	0.49952	0.669000	0.39330	0.804000	0.27098	1.561000	0.49584	0.544000	0.68410	CCT		0.294	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		15	21	1	0	7.93312e-07	1	8.748e-07	15	21				
OR2T2	401992	broad.mit.edu	37	1	248616210	248616210	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:248616210G>C	ENST00000342927.3	+	1	134	c.112G>C	c.(112-114)Gtg>Ctg	p.V38L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATCTTTGTGGTGGCTATAAC	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(112-114)Gtg>Ctg		olfactory receptor, family 2, subfamily T, member 2							179.0	196.0	190.0					1																	248616210		2203	4300	6503	SO:0001583	missense	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616210G>C	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.112G>C	1.37:g.248616210G>C	ENSP00000343062:p.Val38Leu						p.V38L	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	134	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		38					B2RNM1|B9EH01	Missense_Mutation	SNP	ENST00000342927.3	37	c.112G>C	CCDS31116.1	.	.	.	.	.	.	.	.	.	.	g	7.150	0.583615	0.13749	.	.	ENSG00000196240	ENST00000342927	T	0.00587	6.38	3.2	3.2	0.36748	.	0.000000	0.43416	D	0.000580	T	0.00524	0.0017	N	0.21583	0.68	0.30810	N	0.738976	P	0.45348	0.856	B	0.42462	0.388	T	0.59653	-0.7414	10	0.28530	T	0.3	.	9.6914	0.40131	0.0:0.2143:0.7856:0.0	.	38	Q6IF00	OR2T2_HUMAN	L	38	ENSP00000343062:V38L	ENSP00000343062:V38L	V	+	1	0	OR2T2	246682833	0.000000	0.05858	0.999000	0.59377	0.425000	0.31504	-0.044000	0.12023	1.621000	0.50320	0.298000	0.19748	GTG		0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		105	228	0	0	0	1	0	105	228				
OR9Q1	219956	broad.mit.edu	37	11	57947506	57947506	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:57947506T>A	ENST00000335397.3	+	3	906	c.590T>A	c.(589-591)gTg>gAg	p.V197E		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				ACTCAAGAAGTGCTGATTATT	0.463																																						ENST00000335397.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(589-591)gTg>gAg		olfactory receptor, family 9, subfamily Q, member 1							175.0	144.0	155.0					11																	57947506		2201	4296	6497	SO:0001583	missense	219956				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57947506T>A	AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.590T>A	11.37:g.57947506T>A	ENSP00000334934:p.Val197Glu						p.V197E	NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN			3	906	+		Breast(21;0.222)	197					Q2TAN3|Q96RA7	Missense_Mutation	SNP	ENST00000335397.3	37	c.590T>A	CCDS31543.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.667363	0.29604	.	.	ENSG00000186509	ENST00000335397	T	0.00193	8.58	4.68	4.68	0.58851	GPCR, rhodopsin-like superfamily (1);	1.387960	0.04895	N	0.450283	T	0.00468	0.0015	L	0.56199	1.76	0.09310	N	1	D	0.61080	0.989	P	0.60345	0.873	T	0.65545	-0.6142	10	0.72032	D	0.01	-3.4726	13.3692	0.60703	0.0:0.0:0.0:1.0	.	197	Q8NGQ5	OR9Q1_HUMAN	E	197	ENSP00000334934:V197E	ENSP00000334934:V197E	V	+	2	0	OR9Q1	57704082	0.222000	0.23652	0.268000	0.24571	0.179000	0.23085	2.379000	0.44318	2.097000	0.63578	0.397000	0.26171	GTG		0.463	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394538.2	NM_001005212		48	73	0	0	0	1	0	48	73				
PAX1	5075	broad.mit.edu	37	20	21689222	21689222	+	Missense_Mutation	SNP	G	G	T	rs371758290		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:21689222G>T	ENST00000398485.2	+	3	997	c.943G>T	c.(943-945)Gct>Tct	p.A315S	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A291S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	315					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGAAGGCACCGCTTACTCTCC	0.627																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(943-945)Gct>Tct		paired box 1							68.0	80.0	76.0					20																	21689222		2203	4300	6503	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689222G>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.943G>T	20.37:g.21689222G>T	ENSP00000381499:p.Ala315Ser					PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A291S	p.A315S	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			3	997	+			315					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.943G>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493440	0.26774	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98221	-4.33;-4.8	5.3	-3.1	0.05315	.	0.529793	0.18814	N	0.130424	D	0.94105	0.8110	L	0.43152	1.355	0.09310	N	0.999998	B;P;B	0.48162	0.257;0.906;0.004	B;B;B	0.40602	0.17;0.334;0.004	D	0.90792	0.4687	10	0.22109	T	0.4	.	7.2027	0.25889	0.1469:0.0:0.4914:0.3617	.	291;221;315	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	S	315;291	ENSP00000381499:A315S;ENSP00000410355:A291S	ENSP00000381499:A315S	A	+	1	0	PAX1	21637222	0.000000	0.05858	0.026000	0.17262	0.142000	0.21351	-0.381000	0.07417	-0.987000	0.03494	-1.532000	0.00920	GCT		0.627	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			69	103	1	0	6.07461e-23	1	8.4466e-23	69	103				
MATN1	4146	broad.mit.edu	37	1	31191603	31191603	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:31191603T>G	ENST00000373765.4	-	3	678	c.643A>C	c.(643-645)Aag>Cag	p.K215Q	MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	215	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGGAACTTCCTGGACAGC	0.706																																						ENST00000373765.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(643-645)Aag>Cag		matrilin 1, cartilage matrix protein							41.0	37.0	38.0					1																	31191603		2203	4300	6503	SO:0001583	missense	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31191603T>G	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.643A>C	1.37:g.31191603T>G	ENSP00000362870:p.Lys215Gln					MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414532.2_RNA	p.K215Q	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	3	678	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	215			VWFA 1.		B2R7E3|Q5TBB9	Missense_Mutation	SNP	ENST00000373765.4	37	c.643A>C	CCDS336.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867402	0.72065	.	.	ENSG00000162510	ENST00000373765	T	0.78364	-1.17	4.68	4.68	0.58851	von Willebrand factor, type A (2);	.	.	.	.	T	0.77935	0.4205	L	0.28192	0.835	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.72456	-0.4288	9	0.07644	T	0.81	-15.6735	14.1175	0.65164	0.0:0.0:0.0:1.0	.	199;215	A3KMG0;P21941	.;MATN1_HUMAN	Q	215	ENSP00000362870:K215Q	ENSP00000362870:K215Q	K	-	1	0	MATN1	30964190	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.247000	0.72411	1.734000	0.51633	0.402000	0.26972	AAG		0.706	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		16	25	0	0	0	1	0	16	25				
FAM184A	79632	broad.mit.edu	37	6	119296323	119296323	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:119296323G>T	ENST00000338891.7	-	13	3077	c.2634C>A	c.(2632-2634)caC>caA	p.H878Q	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.H758Q|FAM184A_ENST00000352896.5_Missense_Mutation_p.H758Q|FAM184A_ENST00000521531.1_Missense_Mutation_p.H878Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	878						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GATGCTCTCTGTGTCTTAATT	0.338																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(2632-2634)caC>caA		family with sequence similarity 184, member A							127.0	109.0	115.0					6																	119296323		1842	4091	5933	SO:0001583	missense	79632							g.chr6:119296323G>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2634C>A	6.37:g.119296323G>T	ENSP00000342604:p.His878Gln					FAM184A_ENST00000368475.4_Missense_Mutation_p.H758Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.H758Q|FAM184A_ENST00000521531.1_Missense_Mutation_p.H878Q	p.H878Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			13	3077	-			878					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.2634C>A	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	G	4.502	0.093165	0.08632	.	.	ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.21361	2.73;2.57;2.04;2.01	5.4	4.54	0.55810	.	0.174821	0.47093	D	0.000247	T	0.10937	0.0267	L	0.35414	1.06	0.80722	D	1	D;B;D	0.58620	0.964;0.019;0.983	P;B;P	0.53689	0.732;0.019;0.72	T	0.09530	-1.0670	10	0.13108	T	0.6	-6.6883	8.8869	0.35409	0.2746:0.0:0.7254:0.0	.	878;758;878	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Q	41;878;758;758;878	ENSP00000342604:H878Q;ENSP00000326608:H758Q;ENSP00000357460:H758Q;ENSP00000430442:H878Q	ENSP00000342604:H878Q	H	-	3	2	FAM184A	119338022	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	2.471000	0.45127	1.433000	0.47394	-0.142000	0.14014	CAC		0.338	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		11	31	1	0	6.40141e-05	1	6.812e-05	11	31				
CATSPERB	79820	broad.mit.edu	37	14	92088146	92088146	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:92088146T>A	ENST00000256343.3	-	19	2222	c.2066A>T	c.(2065-2067)aAc>aTc	p.N689I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	689					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGTCATATTGTTGGGTGCACT	0.388																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(2065-2067)aAc>aTc		catsper channel auxiliary subunit beta							139.0	124.0	129.0					14																	92088146		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92088146T>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2066A>T	14.37:g.92088146T>A	ENSP00000256343:p.Asn689Ile						p.N689I	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			19	2222	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	689					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2066A>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.182270	0.38511	.	.	ENSG00000133962	ENST00000256343	T	0.43294	0.95	5.43	-8.28	0.01013	.	3.902790	0.00757	N	0.001113	T	0.26810	0.0656	L	0.40543	1.245	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.09422	-1.0675	10	0.21014	T	0.42	4.1706	4.09	0.09965	0.5657:0.0751:0.084:0.2752	.	689	Q9H7T0	CTSRB_HUMAN	I	689	ENSP00000256343:N689I	ENSP00000256343:N689I	N	-	2	0	CATSPERB	91157899	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.802000	0.04545	-1.099000	0.03034	-0.468000	0.05107	AAC		0.388	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		37	60	0	0	0	1	0	37	60				
ADAMTS10	81794	broad.mit.edu	37	19	8670004	8670004	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:8670004C>G	ENST00000597188.1	-	4	598	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.E110Q	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	110						extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GCCAGGCCCTCCCGTGTCCAG	0.677																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(328-330)Gag>Cag		ADAM metallopeptidase with thrombospondin type 1 motif, 10							22.0	22.0	22.0					19																	8670004		2202	4295	6497	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8670004C>G	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.328G>C	19.37:g.8670004C>G	ENSP00000471851:p.Glu110Gln					ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E110Q	p.E110Q			Q9H324	ATS10_HUMAN			3	594	-			110					M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.328G>C	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880213	0.72294	.	.	ENSG00000142303	ENST00000270328	T	0.05996	3.36	5.33	5.33	0.75918	Peptidase M12B, propeptide (1);	0.154447	0.43416	D	0.000568	T	0.12220	0.0297	L	0.36672	1.1	0.37868	D	0.929971	P	0.35107	0.484	P	0.47705	0.555	T	0.33292	-0.9874	10	0.20046	T	0.44	.	18.0056	0.89208	0.0:1.0:0.0:0.0	.	110	Q9H324	ATS10_HUMAN	Q	110	ENSP00000270328:E110Q	ENSP00000270328:E110Q	E	-	1	0	ADAMTS10	8576004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.566000	0.67372	2.501000	0.84356	0.491000	0.48974	GAG		0.677	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		22	26	0	0	0	1	0	22	26				
EPHA3	2042	broad.mit.edu	37	3	89462292	89462292	+	Splice_Site	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:89462292A>T	ENST00000336596.2	+	10	1989	c.1764A>T	c.(1762-1764)ttA>ttT	p.L588F	EPHA3_ENST00000494014.1_Splice_Site_p.L588F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	588					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)			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)		CTCAAACAGTAAAACTTCCAG	0.373										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				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.e10-1		EPH receptor A3							100.0	98.0	99.0					3																	89462292		2203	4299	6502	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89462292A>T	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.1763-1A>T	3.37:g.89462292A>T		TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Splice_Site_p.L588_splice	p.L588_splice	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	10	1989	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	588					Q9H2V3|Q9H2V4	Splice_Site	SNP	ENST00000336596.2	37	c.1762_splice	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.268690	0.23136	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.74526	-0.84;-0.85	5.95	1.03	0.20045	.	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	L	0.35487	1.065	0.58432	D	0.999991	B	0.34103	0.437	B	0.27500	0.08	T	0.41270	-0.9518	9	.	.	.	.	9.5172	0.39113	0.7398:0.0:0.2602:0.0	.	588	P29320	EPHA3_HUMAN	F	588	ENSP00000337451:L588F;ENSP00000419190:L588F	.	L	+	3	2	EPHA3	89544982	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	1.051000	0.30417	-0.041000	0.13558	0.528000	0.53228	TTA		0.373	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Missense_Mutation	44	76	0	0	0	1	0	44	76				
LRP2	4036	broad.mit.edu	37	2	170063263	170063263	+	Silent	SNP	G	G	A	rs149367019	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:170063263G>A	ENST00000263816.3	-	39	7252	c.6967C>T	c.(6967-6969)Cta>Tta	p.L2323L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2323					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)"""	ACATCTCTTAGCCAGTTGATA	0.463													G|||	6	0.00119808	0.0	0.0	5008	,	,		20107	0.0		0.005	False		,,,				2504	0.001					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.(6967-6969)Cta>Tta		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)	G		6,4400	11.4+/-27.6	0,6,2197	159.0	159.0	159.0		6967	3.3	0.9	2	dbSNP_134	159	58,8542	35.9+/-90.5	0,58,4242	no	coding-synonymous	LRP2	NM_004525.2		0,64,6439	AA,AG,GG		0.6744,0.1362,0.4921		2323/4656	170063263	64,12942	2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:170063263G>A		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.6967C>T	2.37:g.170063263G>A							p.L2323L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	7252	-			2323					O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.6967C>T	CCDS2232.1																																																																																				0.463	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		33	53	0	0	0	1	0	33	53				
PCLO	27445	broad.mit.edu	37	7	82585680	82585680	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:82585680C>A	ENST00000333891.9	-	5	4926	c.4589G>T	c.(4588-4590)aGa>aTa	p.R1530I	PCLO_ENST00000423517.2_Missense_Mutation_p.R1530I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACACTAGTTCTTCGTTTTCT	0.398																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4588-4590)aGa>aTa		piccolo presynaptic cytomatrix protein							136.0	122.0	126.0					7																	82585680		1905	4147	6052	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585680C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4589G>T	7.37:g.82585680C>A	ENSP00000334319:p.Arg1530Ile					PCLO_ENST00000333891.8_Missense_Mutation_p.R1530I	p.R1530I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	4926	-			1461						Missense_Mutation	SNP	ENST00000333891.9	37	c.4589G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.036373	0.35893	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18657	2.2;2.2	5.47	5.47	0.80525	.	.	.	.	.	T	0.27027	0.0662	L	0.47716	1.5	0.80722	D	1	P;P	0.45474	0.859;0.859	B;B	0.43274	0.414;0.414	T	0.02391	-1.1166	9	0.87932	D	0	.	19.3222	0.94246	0.0:1.0:0.0:0.0	.	1530;1530	Q9Y6V0-5;Q9Y6V0-6	.;.	I	1461;1530;1530	ENSP00000334319:R1530I;ENSP00000388393:R1530I	ENSP00000334319:R1530I	R	-	2	0	PCLO	82423616	0.880000	0.30214	0.538000	0.28064	0.992000	0.81027	3.208000	0.51114	2.569000	0.86673	0.655000	0.94253	AGA		0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		15	36	1	0	7.93312e-07	1	8.748e-07	15	36				
RNF40	9810	broad.mit.edu	37	16	30774800	30774800	+	Missense_Mutation	SNP	C	C	T	rs199734395		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:30774800C>T	ENST00000324685.6	+	4	797	c.362C>T	c.(361-363)gCg>gTg	p.A121V	RNF40_ENST00000563683.1_Missense_Mutation_p.A121V|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.A121V|C16orf93_ENST00000541260.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000402121.3_Intron	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	121					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGTCTTCAGCGCCTGAGGCA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18661	0.001		0.0	False		,,,				2504	0.0					ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(361-363)gCg>gTg		ring finger protein 40, E3 ubiquitin protein ligase							61.0	62.0	62.0					16																	30774800		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30774800C>T	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.362C>T	16.37:g.30774800C>T	ENSP00000325677:p.Ala121Val					RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.A121V|RNF40_ENST00000357890.5_Missense_Mutation_p.A121V	p.A121V	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		4	797	+			121					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.362C>T	CCDS10691.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.258	0.810435	0.16537	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.30182	1.55;1.54	5.84	3.89	0.44902	.	0.263550	0.36338	N	0.002652	T	0.24812	0.0602	L	0.44542	1.39	0.49130	D	0.999757	B;B;B	0.19445	0.001;0.036;0.003	B;B;B	0.15052	0.001;0.012;0.003	T	0.03887	-1.0995	10	0.36615	T	0.2	-44.319	9.7898	0.40699	0.0:0.2928:0.5611:0.1461	.	121;121;121	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	V	121	ENSP00000325677:A121V;ENSP00000350563:A121V	ENSP00000325677:A121V	A	+	2	0	RNF40	30682301	0.032000	0.19561	0.992000	0.48379	0.319000	0.28217	0.804000	0.27098	0.818000	0.34468	-1.274000	0.01402	GCG		0.562	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		4	157	0	0	0	1	0	4	157				
PARP8	79668	broad.mit.edu	37	5	50111284	50111284	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:50111284G>C	ENST00000281631.5	+	15	1752	c.1594G>C	c.(1594-1596)Gag>Cag	p.E532Q	PARP8_ENST00000503750.2_Missense_Mutation_p.E532Q|PARP8_ENST00000514342.2_Missense_Mutation_p.E285Q|PARP8_ENST00000514067.2_Missense_Mutation_p.E532Q|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.E532Q|PARP8_ENST00000505554.1_Missense_Mutation_p.E511Q	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	532						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATGTGAACGGGAGCTGTGTGT	0.353																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1594-1596)Gag>Cag		poly (ADP-ribose) polymerase family, member 8							128.0	120.0	123.0					5																	50111284		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50111284G>C	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1594G>C	5.37:g.50111284G>C	ENSP00000281631:p.Glu532Gln					PARP8_ENST00000503750.2_Missense_Mutation_p.E532Q|PARP8_ENST00000514067.2_Missense_Mutation_p.E532Q|PARP8_ENST00000505697.2_Missense_Mutation_p.E532Q|PARP8_ENST00000514342.2_Missense_Mutation_p.E285Q|PARP8_ENST00000505554.1_Missense_Mutation_p.E511Q|PARP8_ENST00000511363.2_3'UTR	p.E532Q	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			15	1752	+		Lung NSC(810;0.0305)|Breast(144;0.222)	532					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1594G>C	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740233	0.89573	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.67277	0.2876	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.63880	0.993;0.989;0.993	D;D;D	0.72982	0.968;0.979;0.968	T	0.64803	-0.6321	8	.	.	.	-16.8371	18.8474	0.92212	0.0:0.0:1.0:0.0	.	424;532;532	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	Q	532;532;285;532;532;511;285;285	.	.	E	+	1	0	PARP8	50147041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.182000	0.77689	2.437000	0.82529	0.650000	0.86243	GAG		0.353	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		18	20	0	0	0	1	0	18	20				
LAMA2	3908	broad.mit.edu	37	6	129799951	129799951	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:129799951C>A	ENST00000421865.2	+	54	7614	c.7565C>A	c.(7564-7566)tCc>tAc	p.S2522Y	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2522					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAAGGATGTTCCCTGGAGGTT	0.378																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(7564-7566)tCc>tAc		laminin, alpha 2							171.0	164.0	167.0					6																	129799951		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129799951C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7565C>A	6.37:g.129799951C>A	ENSP00000400365:p.Ser2522Tyr						p.S2522Y	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	54	7614	+			2522					Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7565C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.932648	0.34096	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.79845	-1.31	6.1	4.34	0.51931	.	0.418691	0.28156	N	0.016398	T	0.47710	0.1460	N	0.14661	0.345	0.09310	N	1	P;P	0.39131	0.661;0.661	B;B	0.37387	0.248;0.248	T	0.42155	-0.9468	9	.	.	.	.	12.4484	0.55664	0.0:0.8644:0.0:0.1356	.	2523;2522	A6NF00;P24043	.;LAMA2_HUMAN	Y	2522;2521;2522;540	ENSP00000400365:S2522Y	.	S	+	2	0	LAMA2	129841644	0.496000	0.26059	0.043000	0.18650	0.800000	0.45204	2.901000	0.48695	0.918000	0.36919	0.650000	0.86243	TCC		0.378	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			69	127	1	0	1.43161e-34	1	2.10277e-34	69	127				
LILRA2	11027	broad.mit.edu	37	19	55087315	55087315	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:55087315C>T	ENST00000251377.3	+	7	1127	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	LILRA2_ENST00000251376.3_Missense_Mutation_p.P332S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P320S|LILRA2_ENST00000391738.3_Missense_Mutation_p.P332S|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	332	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GCAGCCGGTCCCCACAGTAGC	0.602																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(994-996)Ccc>Tcc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							61.0	55.0	57.0					19																	55087315		2203	4300	6503	SO:0001583	missense	11027							g.chr19:55087315C>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.994C>T	19.37:g.55087315C>T	ENSP00000251377:p.Pro332Ser					LILRA2_ENST00000391737.1_Missense_Mutation_p.P320S|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P332S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P332S	p.P332S						GBM - Glioblastoma multiforme(193;0.0963)	7	1127	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.994C>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	C	7.098	0.573506	0.13623	.	.	ENSG00000239998	ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T	0.03242	4.0;4.0;4.0;4.0	2.19	-0.0291	0.13919	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.788139	0.10467	N	0.671279	T	0.08492	0.0211	L	0.45470	1.425	0.09310	N	1	P;P;B	0.44044	0.825;0.825;0.128	P;P;B	0.59357	0.856;0.654;0.2	T	0.35076	-0.9803	9	.	.	.	.	4.2671	0.10768	0.0:0.63:0.0:0.37	.	320;332;332	A8MZH0;Q8N149;Q8N149-2	.;LIRA2_HUMAN;.	S	332;332;332;320	ENSP00000251377:P332S;ENSP00000375618:P332S;ENSP00000251376:P332S;ENSP00000375617:P320S	.	P	+	1	0	LILRA2	59779127	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.031000	0.13710	0.040000	0.15660	-0.357000	0.07601	CCC		0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			26	32	0	0	0	1	0	26	32				
PRTG	283659	broad.mit.edu	37	15	55972792	55972792	+	Silent	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:55972792A>T	ENST00000389286.4	-	5	758	c.711T>A	c.(709-711)atT>atA	p.I237I	RP11-420M1.2_ENST00000561155.1_RNA	NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GACCTGCTATAATTGTTGGTG	0.368																																						ENST00000389286.4																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(709-711)atT>atA		protogenin							169.0	160.0	163.0					15																	55972792		1856	4105	5961	SO:0001819	synonymous_variant	283659				multicellular organismal development	integral to membrane		g.chr15:55972792A>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.711T>A	15.37:g.55972792A>T						RP11-420M1.2_ENST00000561155.1_RNA	p.I237I	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	5	758	-			237			Ig-like 3.			Silent	SNP	ENST00000389286.4	37	c.711T>A	CCDS42040.1																																																																																				0.368	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		59	110	0	0	0	1	0	59	110				
SNAP25	6616	broad.mit.edu	37	20	10286817	10286817	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:10286817G>A	ENST00000254976.2	+	8	804	c.593G>A	c.(592-594)cGt>cAt	p.R198H	SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.R198H	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	198	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GCCAACCAACGTGCAACAAAG	0.458																																						ENST00000254976.2																			0				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18						c.(592-594)cGt>cAt		synaptosomal-associated protein, 25kDa	Botulinum Toxin Type A(DB00083)						138.0	104.0	116.0					20																	10286817		2203	4300	6503	SO:0001583	missense	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10286817G>A		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.593G>A	20.37:g.10286817G>A	ENSP00000254976:p.Arg198His					SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Missense_Mutation_p.R198H|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	p.R198H	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN			8	804	+			198			t-SNARE coiled-coil homology 2.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.593G>A	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154091	0.57259	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	5.94	5.94	0.96194	Target SNARE coiled-coil domain (3);	0.141445	0.64402	D	0.000006	T	0.71904	0.3395	M	0.89214	3.015	0.80722	D	1	B;B	0.16802	0.019;0.004	B;B	0.09377	0.004;0.003	T	0.71224	-0.4656	9	0.66056	D	0.02	-12.0934	13.5446	0.61695	0.0709:0.0:0.9291:0.0	.	198;198	P60880-2;P60880	.;SNP25_HUMAN	H	198	.	ENSP00000254976:R198H	R	+	2	0	SNAP25	10234817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.061000	0.89467	2.807000	0.96579	0.591000	0.81541	CGT		0.458	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		10	28	0	0	0	1	0	10	28				
U2AF1L4	199746	broad.mit.edu	37	19	36234912	36234912	+	Splice_Site	SNP	C	C	T	rs372530599		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:36234912C>T	ENST00000412391.2	-	6	496		c.e6+1		IGFLR1_ENST00000588992.1_5'Flank|IGFLR1_ENST00000592889.1_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|AD000671.6_ENST00000589807.1_Intron|PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000592537.1_5'Flank|PSENEN_ENST00000587708.2_5'Flank|PSENEN_ENST00000591949.1_5'Flank|IGFLR1_ENST00000344990.3_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|U2AF1L4_ENST00000378975.3_Splice_Site|U2AF1L4_ENST00000292879.5_Intron			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AACTACCATACCCCATCTCAT	0.552																																						ENST00000412391.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8						c.e6+1		U2 small nuclear RNA auxiliary factor 1-like 4		C	,	0,4406		0,0,2203	89.0	87.0	88.0		,	5.2	1.0	19		88	1,8599	1.2+/-3.3	0,1,4299	no	splice-5,intron	U2AF1L4	NM_001040425.1,NM_144987.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	,	36234912	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	199746				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding	g.chr19:36234912C>T	BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"""RNA binding motif (RRM) containing"""	23020	protein-coding gene	gene with protein product		601080	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 3"", ""U2 small nuclear RNA auxiliary factor 1-like 3"""	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.482+1G>A	19.37:g.36234912C>T						U2AF1L4_ENST00000292879.5_Intron|U2AF1L4_ENST00000378975.3_Splice_Site|AD000671.6_ENST00000589807.1_Intron				Q8WU68	U2AF4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	496	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)							A6NKI8|Q56UU3	Splice_Site	SNP	ENST00000412391.2	37			.	.	.	.	.	.	.	.	.	.	C	19.74	3.884399	0.72410	0.0	1.16E-4	ENSG00000161265	ENST00000378975;ENST00000412391	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2083	0.82142	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	U2AF1L4	40926752	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	5.365000	0.66116	2.423000	0.82170	0.561000	0.74099	.		0.552	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144987	Intron	18	65	0	0	0	1	0	18	65				
TMEM132D	121256	broad.mit.edu	37	12	129558510	129558510	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr12:129558510C>T	ENST00000422113.2	-	9	3536	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	TMEM132D_ENST00000389441.4_Silent_p.E608E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1070					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAATGTCATCCTCGCTACTCA	0.507																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(3208-3210)gaG>gaA		transmembrane protein 132D							181.0	169.0	173.0					12																	129558510		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129558510C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3210G>A	12.37:g.129558510C>T						TMEM132D_ENST00000389441.4_Silent_p.E608E	p.E1070E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3536	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1070					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.3210G>A	CCDS9266.1																																																																																				0.507	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		43	92	0	0	0	1	0	43	92				
CNKSR1	10256	broad.mit.edu	37	1	26504062	26504062	+	Silent	SNP	C	C	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:26504062C>G	ENST00000374253.5	+	1	63	c.24C>G	c.(22-24)acC>acG	p.T8T	CNKSR1_ENST00000531191.1_5'Flank|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000361530.6_Silent_p.T8T	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	8	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCTGGACCCCCGGAAAGG	0.637																																					NSCLC(180;1396 2109 28270 30756 34275)	ENST00000361530.6																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(22-24)acC>acG		connector enhancer of kinase suppressor of Ras 1							61.0	66.0	64.0					1																	26504062		2203	4300	6503	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26504062C>G	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.24C>G	1.37:g.26504062C>G						CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000374253.5_Silent_p.T8T	p.T8T			Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	1	169	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	8			SAM.		B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.24C>G																																																																																					0.637	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314		10	50	0	0	0	1	0	10	50				
NEUROD1	4760	broad.mit.edu	37	2	182543549	182543549	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:182543549C>T	ENST00000295108.3	-	2	496	c.39G>A	c.(37-39)gaG>gaA	p.E13E	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	13					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGGGCTGAGGCTCGCCCATCA	0.517																																						ENST00000295108.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(37-39)gaG>gaA		neuronal differentiation 1							86.0	75.0	79.0					2																	182543549		2203	4300	6503	SO:0001819	synonymous_variant	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543549C>T	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.39G>A	2.37:g.182543549C>T						NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	p.E13E	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	496	-			13					B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	ENST00000295108.3	37	c.39G>A	CCDS2283.1																																																																																				0.517	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		5	55	0	0	0	1	0	5	55				
LENG8	114823	broad.mit.edu	37	19	54969305	54969305	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:54969305G>T	ENST00000326764.5	+	14	2405	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	605										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGTTTAACCAGTGCCAGACGC	0.572																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1924-1926)caG>caT		leukocyte receptor cluster (LRC) member 8							104.0	100.0	102.0					19																	54969305		2203	4300	6503	SO:0001583	missense	114823						protein binding	g.chr19:54969305G>T	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1926G>T	19.37:g.54969305G>T	ENSP00000318374:p.Gln642His					LENG8_ENST00000376514.2_Intron	p.Q642H	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	14	2405	+	Ovarian(34;0.19)		605					B0VJY9|Q8IZ27|Q8NCX6	Missense_Mutation	SNP	ENST00000326764.5	37	c.1926G>T	CCDS12894.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913053	0.92178	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	T;T;T	0.35236	1.32;1.32;1.32	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.81019	-0.1122	10	0.87932	D	0	-30.3766	16.5215	0.84318	0.0:0.0:1.0:0.0	.	642;605	Q96PV6-2;F8W9Q9	.;.	H	642;605;605;642	ENSP00000318374:Q642H;ENSP00000365709:Q605H;ENSP00000388053:Q642H	ENSP00000301196:Q605H	Q	+	3	2	LENG8	59661117	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.333000	0.52090	2.582000	0.87167	0.561000	0.74099	CAG		0.572	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925		39	57	1	0	1.96642e-18	1	2.6195e-18	39	57				
HTATIP2	10553	broad.mit.edu	37	11	20403774	20403774	+	Silent	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:20403774A>G	ENST00000451739.2	+	4	933	c.492A>G	c.(490-492)gtA>gtG	p.V164V	HTATIP2_ENST00000443524.2_Silent_p.V164V|HTATIP2_ENST00000421577.2_Silent_p.V164V|HTATIP2_ENST00000419348.2_Silent_p.V198V|HTATIP2_ENST00000531058.1_Silent_p.V118V	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GTTACTCTGTATTTAGGCCTG	0.358																																						ENST00000451739.2																			0				large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(490-492)gtA>gtG		HIV-1 Tat interactive protein 2, 30kDa							114.0	128.0	123.0					11																	20403774		2202	4300	6502	SO:0001819	synonymous_variant	10553				angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity	g.chr11:20403774A>G	AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.492A>G	11.37:g.20403774A>G						HTATIP2_ENST00000419348.2_Silent_p.V198V|HTATIP2_ENST00000531058.1_Silent_p.V118V|HTATIP2_ENST00000421577.2_Silent_p.V164V|HTATIP2_ENST00000443524.2_Silent_p.V164V	p.V164V	NM_001098522.1	NP_001091992.1	Q9BUP3	HTAI2_HUMAN			4	933	+			164						Silent	SNP	ENST00000451739.2	37	c.492A>G	CCDS7852.1																																																																																				0.358	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387445.2	NM_001098521		22	9	0	0	0	1	0	22	9				
MUC17	140453	broad.mit.edu	37	7	100683806	100683806	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:100683806C>T	ENST00000306151.4	+	3	9173	c.9109C>T	c.(9109-9111)Cca>Tca	p.P3037S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3037	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCGGCATACCAATCTCAAC	0.512																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9109-9111)Cca>Tca		mucin 17, cell surface associated							265.0	278.0	274.0					7																	100683806		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683806C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9109C>T	7.37:g.100683806C>T	ENSP00000302716:p.Pro3037Ser						p.P3037S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9173	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3037			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9109C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	4.964	0.179138	0.09443	.	.	ENSG00000169876	ENST00000306151	T	0.06608	3.28	0.811	-1.62	0.08372	.	.	.	.	.	T	0.04724	0.0128	N	0.12182	0.205	0.09310	N	1	D	0.57571	0.98	P	0.59424	0.857	T	0.10337	-1.0634	9	0.06757	T	0.87	.	0.0456	0.00010	0.2738:0.2333:0.2283:0.2646	.	3037	Q685J3	MUC17_HUMAN	S	3037	ENSP00000302716:P3037S	ENSP00000302716:P3037S	P	+	1	0	MUC17	100470526	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.395000	0.00486	-1.037000	0.03283	0.121000	0.15741	CCA		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		261	355	0	0	0	1	0	261	355				
CIAO1	9391	broad.mit.edu	37	2	96936884	96936884	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:96936884G>T	ENST00000488633.1	+	7	1034	c.815G>T	c.(814-816)gGg>gTg	p.G272V		NM_004804.2	NP_004795.1			cytosolic iron-sulfur assembly component 1											endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						ACAGCTTGTGGGGATGACGCG	0.562																																						ENST00000488633.1																			0				endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(814-816)gGg>gTg		cytosolic iron-sulfur protein assembly 1							87.0	79.0	82.0					2																	96936884		2203	4300	6503	SO:0001583	missense	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96936884G>T	U63810	CCDS2019.1	2q11.1-q11.2	2014-01-13	2014-01-13	2006-11-23	ENSG00000144021	ENSG00000144021		"""WD repeat domain containing"""	14280	protein-coding gene	gene with protein product		604333	"""WD repeat domain 39"", ""cytosolic iron-sulfur protein assembly 1 homolog (S. cerevisiae)"", ""cytosolic iron-sulfur protein assembly 1"""	WDR39		9556563, 10493829	Standard	NM_004804		Approved	CIA1	uc002svs.3	O76071	OTTHUMG00000130452	ENST00000488633.1:c.815G>T	2.37:g.96936884G>T	ENSP00000418287:p.Gly272Val						p.G272V	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN			7	1034	+			272						Missense_Mutation	SNP	ENST00000488633.1	37	c.815G>T	CCDS2019.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458608	0.84317	.	.	ENSG00000144021	ENST00000488633	T	0.60424	0.19	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76844	-0.2809	10	0.33141	T	0.24	-20.8492	17.3304	0.87261	0.0:0.0:1.0:0.0	.	272	O76071	CIAO1_HUMAN	V	272	ENSP00000418287:G272V	ENSP00000418287:G272V	G	+	2	0	CIAO1	96300611	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	9.182000	0.94881	2.779000	0.95612	0.655000	0.94253	GGG		0.562	CIAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252843.1	NM_004804		32	58	1	0	9.65963e-10	1	1.11575e-09	32	58				
NKX2-1	7080	broad.mit.edu	37	14	36989271	36989271	+	5'UTR	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:36989271G>A	ENST00000522719.2	-	0	68				NKX2-1-AS1_ENST00000521292.2_RNA|NKX2-1_ENST00000518149.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_5'Flank|NKX2-1_ENST00000354822.5_Missense_Mutation_p.P22S			P43699	NKX21_HUMAN	NK2 homeobox 1						anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|brain development (GO:0007420)|cerebral cortex cell migration (GO:0021795)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|Clara cell differentiation (GO:0060486)|developmental induction (GO:0031128)|endoderm development (GO:0007492)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|forebrain development (GO:0030900)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain neuron fate commitment (GO:0021877)|globus pallidus development (GO:0021759)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|locomotory behavior (GO:0007626)|lung development (GO:0030324)|lung saccule development (GO:0060430)|menarche (GO:0042696)|negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron migration (GO:0001764)|oligodendrocyte differentiation (GO:0048709)|phospholipid metabolic process (GO:0006644)|pituitary gland development (GO:0021983)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|rhythmic process (GO:0048511)|thyroid gland development (GO:0030878)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		AGCCTGCCGGGGCTGCTCCTC	0.687			A		NSCLC																																	ENST00000354822.5				Dom	yes		14	14q13	7080	A	NK2 homeobox 1			E			NSCLC		0				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7						c.(64-66)Ccc>Tcc		NK2 homeobox 1							13.0	17.0	16.0					14																	36989271		2007	4159	6166	SO:0001623	5_prime_UTR_variant	7080				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding	g.chr14:36989271G>A		CCDS9659.1, CCDS41945.1	14q13.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000136352	ENSG00000136352		"""Homeoboxes / ANTP class : NKL subclass"""	11825	protein-coding gene	gene with protein product		600635	"""benign chorea"", ""thyroid transcription factor 1"""	NKX2A, BCH, TITF1		1976511	Standard	NM_001079668		Approved	TTF-1, TTF1	uc001wtu.3	P43699	OTTHUMG00000140225	ENST00000522719.2:c.-172C>T	14.37:g.36989271G>A						NKX2-1_ENST00000518149.1_Intron|NKX2-1_ENST00000522719.2_5'UTR|NKX2-1-AS1_ENST00000521292.2_RNA	p.P22S	NM_001079668.2	NP_001073136.1	P43699	NKX21_HUMAN	Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)	1	162	-	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		242					D3DSA3|O14954|O14955|Q7KZF6|Q9BRJ8	Missense_Mutation	SNP	ENST00000522719.2	37	c.64C>T	CCDS9659.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048708	0.55110	.	.	ENSG00000136352	ENST00000354822;ENST00000546983	D	0.90324	-2.65	4.33	2.44	0.29823	.	0.197924	0.20629	U	0.088624	D	0.84692	0.5528	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.80254	-0.1459	9	0.62326	D	0.03	.	7.3549	0.26713	0.2246:0.0:0.7754:0.0	.	22	P43699-3	.	S	22	ENSP00000346879:P22S	ENSP00000346879:P22S	P	-	1	0	NKX2-1	36059022	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.565000	0.36386	0.937000	0.37394	0.462000	0.41574	CCC		0.687	NKX2-1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376226.2	NM_003317		17	28	0	0	0	1	0	17	28				
MPPED1	758	broad.mit.edu	37	22	43830954	43830954	+	Splice_Site	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:43830954G>T	ENST00000417669.2	+	3	669	c.225G>T	c.(223-225)atG>atT	p.M75I	MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000538182.1_Splice_Site_p.M108I|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000443721.1_Splice_Site_p.M75I|MPPED1_ENST00000542779.1_Splice_Site_p.M75I			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	75							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTCCCTGCAGGGTGGACCCGG	0.647																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.e3-1		metallophosphoesterase domain containing 1							83.0	96.0	92.0					22																	43830954		2167	4252	6419	SO:0001630	splice_region_variant	758						hydrolase activity	g.chr22:43830954G>T	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.225-1G>T	22.37:g.43830954G>T						MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Splice_Site_p.M75_splice|MPPED1_ENST00000538182.1_Splice_Site_p.M108_splice|MPPED1_ENST00000443721.1_Splice_Site_p.M75_splice	p.M75_splice			O15442	MPPD1_HUMAN			3	669	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	75					A8K159|B7Z2S9|Q8N361	Splice_Site	SNP	ENST00000417669.2	37	c.224_splice	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.791049	0.50102	.	.	ENSG00000186732	ENST00000417669;ENST00000334209;ENST00000443721;ENST00000545165;ENST00000542779;ENST00000538182	T;T;T;T;T	0.44482	0.99;0.92;0.99;0.99;0.97	4.81	4.81	0.61882	.	0.198633	0.51477	N	0.000091	T	0.30417	0.0764	L	0.27053	0.805	0.80722	D	1	B;B	0.32717	0.381;0.147	B;B	0.26614	0.071;0.024	T	0.07290	-1.0780	9	.	.	.	.	18.2639	0.90046	0.0:0.0:1.0:0.0	.	108;75	B7Z2S9;O15442	.;MPPD1_HUMAN	I	75;75;75;53;75;108	ENSP00000388137:M75I;ENSP00000335568:M75I;ENSP00000400686:M75I;ENSP00000444532:M75I;ENSP00000438335:M108I	.	M	+	3	0	MPPED1	42160898	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	9.206000	0.95056	2.374000	0.81015	0.561000	0.74099	ATG		0.647	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370	Missense_Mutation	33	107	1	0	1.26612e-14	1	1.59908e-14	33	107				
UGT2B15	7366	broad.mit.edu	37	4	69536139	69536139	+	Silent	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:69536139G>A	ENST00000338206.5	-	1	207	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	66					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	ATGATTTACTGGCATTGACAA	0.358																																						ENST00000338206.5																			0											c.(196-198)gcC>gcT		UDP glucuronosyltransferase 2 family, polypeptide B15							149.0	164.0	159.0					4																	69536139		2203	4299	6502	SO:0001819	synonymous_variant	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69536139G>A	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.198C>T	4.37:g.69536139G>A							p.A66A	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	207	-			66					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Silent	SNP	ENST00000338206.5	37	c.198C>T	CCDS3524.1																																																																																				0.358	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		107	231	0	0	0	1	0	107	231				
PRLR	5618	broad.mit.edu	37	5	35065774	35065774	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:35065774G>T	ENST00000382002.5	-	10	1712	c.1286C>A	c.(1285-1287)tCt>tAt	p.S429Y	PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.S328Y|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S328Y|PRLR_ENST00000509934.1_5'Flank	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	429					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ATTGTGGTAAGAGGATCTGGG	0.493																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1285-1287)tCt>tAt		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						129.0	134.0	132.0					5																	35065774		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065774G>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1286C>A	5.37:g.35065774G>T	ENSP00000371432:p.Ser429Tyr					PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.S328Y|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.S328Y|PRLR_ENST00000231423.3_Intron	p.S429Y	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1712	-	all_lung(31;3.83e-05)		429					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1286C>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	7.035	0.561450	0.13498	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	T;T;T	0.79247	-1.25;-1.25;-1.25	5.8	4.94	0.65067	.	0.312530	0.39834	N	0.001254	D	0.88358	0.6415	M	0.89414	3.03	0.27771	N	0.943501	D;D	0.71674	0.998;0.984	D;P	0.67231	0.95;0.844	D	0.83846	0.0260	10	0.72032	D	0.01	-8.1678	11.8734	0.52534	0.1398:0.0:0.8602:0.0	.	429;328	P16471;P16471-2	PRLR_HUMAN;.	Y	328;429;328	ENSP00000339213:S328Y;ENSP00000371432:S429Y;ENSP00000422556:S328Y	ENSP00000339213:S328Y	S	-	2	0	PRLR	35101531	1.000000	0.71417	0.949000	0.38748	0.001000	0.01503	4.524000	0.60552	1.476000	0.48215	-0.136000	0.14681	TCT		0.493	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			28	230	1	0	1.13719e-10	1	1.34764e-10	28	230				
PDGFRA	5156	broad.mit.edu	37	4	55140745	55140745	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:55140745G>A	ENST00000257290.5	+	11	1937	c.1606G>A	c.(1606-1608)Gtg>Atg	p.V536M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	536					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GGTGCTGTTGGTGATTGTGAT	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1606-1608)Gtg>Atg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						193.0	175.0	181.0					4																	55140745		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55140745G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1606G>A	4.37:g.55140745G>A	ENSP00000257290:p.Val536Met	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.V536M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		11	1937	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		536					B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1606G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624350	0.87560	.	.	ENSG00000134853	ENST00000257290	T	0.78707	-1.2	5.86	5.86	0.93980	.	0.000000	0.29522	U	0.011903	D	0.89213	0.6651	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.973	D	0.88749	0.3249	10	0.54805	T	0.06	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	536;536	P16234-3;P16234	.;PGFRA_HUMAN	M	536	ENSP00000257290:V536M	ENSP00000257290:V536M	V	+	1	0	PDGFRA	54835502	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	9.383000	0.97214	2.776000	0.95493	0.655000	0.94253	GTG		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		33	82	0	0	0	1	0	33	82				
CCNB3	85417	broad.mit.edu	37	X	50053214	50053214	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:50053214A>G	ENST00000376042.1	+	6	2343	c.2045A>G	c.(2044-2046)cAt>cGt	p.H682R	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H682R			Q8WWL7	CCNB3_HUMAN	cyclin B3	682					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CATGTTAAGCATACCAACAAA	0.468																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2044-2046)cAt>cGt		cyclin B3							33.0	28.0	30.0					X																	50053214		2201	4299	6500	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053214A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2045A>G	X.37:g.50053214A>G	ENSP00000365210:p.His682Arg					CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H682R|CCNB3_ENST00000376038.1_Intron	p.H682R			Q8WWL7	CCNB3_HUMAN			6	2343	+	Ovarian(276;0.236)		682					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2045A>G	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.574169	0.28092	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.34275	1.37;1.37	4.19	2.34	0.29019	.	.	.	.	.	T	0.15478	0.0373	N	0.03608	-0.345	0.09310	N	1	B	0.23442	0.085	B	0.23419	0.046	T	0.30794	-0.9966	8	.	.	.	.	8.2354	0.31622	0.4544:0.5456:0.0:0.0	.	682	Q8WWL7	CCNB3_HUMAN	R	682	ENSP00000365210:H682R;ENSP00000276014:H682R	.	H	+	2	0	CCNB3	50069954	0.000000	0.05858	0.000000	0.03702	0.431000	0.31685	-0.870000	0.04228	0.479000	0.27511	-0.269000	0.10298	CAT		0.468	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			16	10	0	0	0	1	0	16	10				
SLC30A10	55532	broad.mit.edu	37	1	220091721	220091721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:220091721G>T	ENST00000366926.3	-	3	995	c.834C>A	c.(832-834)taC>taA	p.Y278*	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Nonsense_Mutation_p.Y33*	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	278					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TGGGGTCAATGTAACACTGCC	0.527																																					Colon(76;360 1614 43677 51136)	ENST00000366926.3																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13						c.(832-834)taC>taA		solute carrier family 30, member 10							167.0	149.0	155.0					1																	220091721		2203	4300	6503	SO:0001587	stop_gained	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220091721G>T	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.834C>A	1.37:g.220091721G>T	ENSP00000355893:p.Tyr278*					SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Nonsense_Mutation_p.Y33*	p.Y278*	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	3	995	-			278					Q49AL9|Q9NPW0	Nonsense_Mutation	SNP	ENST00000366926.3	37	c.834C>A	CCDS31026.1	.	.	.	.	.	.	.	.	.	.	G	38	7.003796	0.97994	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	.	.	.	6.01	5.09	0.68999	.	0.136254	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-38.5613	15.6747	0.77307	0.0666:0.0:0.9334:0.0	.	.	.	.	X	278;33	.	.	Y	-	3	2	SLC30A10	218158344	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.443000	0.73447	2.855000	0.98099	0.585000	0.79938	TAC		0.527	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		22	141	1	0	5.26018e-13	1	6.42129e-13	22	141				
KCTD8	386617	broad.mit.edu	37	4	44450171	44450171	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:44450171A>T	ENST00000360029.3	-	1	653	c.370T>A	c.(370-372)Ttc>Atc	p.F124I	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	124					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTCTCGGGGAAGTGCTCCGGC	0.612										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(370-372)Ttc>Atc		potassium channel tetramerization domain containing 8							23.0	23.0	23.0					4																	44450171		2183	4261	6444	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450171A>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.370T>A	4.37:g.44450171A>T	ENSP00000353129:p.Phe124Ile	HNSCC(17;0.042)					p.F124I	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	653	-			124					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.370T>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822268	0.90873	.	.	ENSG00000183783	ENST00000360029	T	0.41065	1.01	4.03	4.03	0.46877	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	L	0.56396	1.775	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.62358	-0.6871	10	0.72032	D	0.01	.	12.2932	0.54831	1.0:0.0:0.0:0.0	.	124	Q6ZWB6	KCTD8_HUMAN	I	124	ENSP00000353129:F124I	ENSP00000353129:F124I	F	-	1	0	KCTD8	44144928	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.893000	0.92498	1.689000	0.51079	0.477000	0.44152	TTC		0.612	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			22	16	0	0	0	1	0	22	16				
E4F1	1877	broad.mit.edu	37	16	2282198	2282198	+	Missense_Mutation	SNP	G	G	A	rs143442513	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:2282198G>A	ENST00000301727.4	+	4	490	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	E4F1_ENST00000565090.1_Missense_Mutation_p.V148M|E4F1_ENST00000564139.1_Missense_Mutation_p.V148M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	148					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						AGAGGTCATCGTGGCTGCTGA	0.692																																						ENST00000301727.4																			0				ovary(1)	1						c.(442-444)Gtg>Atg		E4F transcription factor 1							61.0	73.0	69.0					16																	2282198		2191	4290	6481	SO:0001583	missense	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2282198G>A	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.442G>A	16.37:g.2282198G>A	ENSP00000301727:p.Val148Met					E4F1_ENST00000564139.1_Missense_Mutation_p.V148M|E4F1_ENST00000565090.1_Missense_Mutation_p.V148M	p.V148M	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			4	490	+			148					A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	c.442G>A	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666252	0.67814	.	.	ENSG00000167967	ENST00000301727	T	0.07688	3.17	5.33	5.33	0.75918	.	0.195570	0.44097	D	0.000488	T	0.24928	0.0605	L	0.53249	1.67	0.53005	D	0.999965	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.966;0.962;0.994	T	0.00166	-1.1966	10	0.66056	D	0.02	-31.5734	15.7407	0.77894	0.0:0.0:1.0:0.0	.	144;148;148	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	M	148	ENSP00000301727:V148M	ENSP00000301727:V148M	V	+	1	0	E4F1	2222199	1.000000	0.71417	0.989000	0.46669	0.703000	0.40648	3.333000	0.52090	2.503000	0.84419	0.561000	0.74099	GTG		0.692	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		7	194	0	0	0	1	0	7	194				
ST6GALNAC5	81849	broad.mit.edu	37	1	77510209	77510209	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:77510209G>T	ENST00000477717.1	+	3	817	c.582G>T	c.(580-582)caG>caT	p.Q194H		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	194					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TCCTGAGCCAGGTGCTGCCCC	0.582																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(580-582)caG>caT		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							109.0	109.0	109.0					1																	77510209		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510209G>T		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.582G>T	1.37:g.77510209G>T	ENSP00000417583:p.Gln194His						p.Q194H	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			3	817	+			194					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.582G>T	CCDS673.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483764	0.63962	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.30182	1.54	5.46	1.39	0.22231	.	0.109198	0.64402	D	0.000004	T	0.34077	0.0885	M	0.80616	2.505	0.43798	D	0.996347	D	0.58970	0.984	P	0.59761	0.863	T	0.15122	-1.0448	10	0.54805	T	0.06	-13.1644	6.9996	0.24803	0.2129:0.1253:0.6618:0.0	.	194	Q9BVH7	SIA7E_HUMAN	H	194;104	ENSP00000417583:Q194H	ENSP00000436263:Q194H	Q	+	3	2	ST6GALNAC5	77282797	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.897000	0.39799	-0.004000	0.14419	0.655000	0.94253	CAG		0.582	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		47	134	1	0	2.24722e-20	1	3.05488e-20	47	134				
KRT32	3882	broad.mit.edu	37	17	39620373	39620373	+	Missense_Mutation	SNP	G	G	T	rs555113806		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:39620373G>T	ENST00000225899.3	-	5	1056	c.953C>A	c.(952-954)aCg>aAg	p.T318K		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	318	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CGTGTTGACCGTGCGTCTCAG	0.587																																						ENST00000225899.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(952-954)aCg>aAg		keratin 32							149.0	115.0	126.0					17																	39620373		2203	4300	6503	SO:0001583	missense	3882				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39620373G>T	X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.953C>A	17.37:g.39620373G>T	ENSP00000225899:p.Thr318Lys						p.T318K	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN			5	1056	-		Breast(137;0.000812)	318			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000225899.3	37	c.953C>A	CCDS11393.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742731	0.69418	.	.	ENSG00000108759	ENST00000225899	D	0.88818	-2.43	5.04	5.04	0.67666	Filament (1);	0.181361	0.26840	N	0.022235	D	0.93481	0.7920	M	0.76433	2.335	0.29363	N	0.864506	D	0.62365	0.991	D	0.68943	0.961	D	0.90029	0.4133	10	0.62326	D	0.03	.	14.314	0.66434	0.0:0.0:0.8514:0.1486	.	318	Q14532	K1H2_HUMAN	K	318	ENSP00000225899:T318K	ENSP00000225899:T318K	T	-	2	0	KRT32	36873899	0.000000	0.05858	0.548000	0.28192	0.959000	0.62525	0.654000	0.24918	2.492000	0.84095	0.655000	0.94253	ACG		0.587	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257293.1	NM_002278		23	67	1	0	9.95505e-16	1	1.28169e-15	23	67				
ZCCHC7	84186	broad.mit.edu	37	9	37357174	37357174	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:37357174A>G	ENST00000336755.5	+	9	1647	c.1541A>G	c.(1540-1542)aAg>aGg	p.K514R	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.K224R	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	514						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AAGGAAGGCAAGAGGGGCAAG	0.433																																						ENST00000336755.5																			0				central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30						c.(1540-1542)aAg>aGg		zinc finger, CCHC domain containing 7							69.0	76.0	73.0					9																	37357174		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37357174A>G	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.1541A>G	9.37:g.37357174A>G	ENSP00000337839:p.Lys514Arg					ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Missense_Mutation_p.K224R	p.K514R	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	9	1647	+			514					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.1541A>G	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	A	8.717	0.913360	0.17907	.	.	ENSG00000147905	ENST00000336755;ENST00000534928	T;T	0.53857	1.24;0.6	5.69	-1.09	0.09904	.	0.624634	0.17358	N	0.177146	T	0.27629	0.0679	N	0.19112	0.55	0.35502	D	0.799844	B	0.14012	0.009	B	0.12156	0.007	T	0.16012	-1.0417	10	0.14252	T	0.57	.	4.6095	0.12395	0.5145:0.0:0.3444:0.1412	.	514	Q8N3Z6	ZCHC7_HUMAN	R	514;224	ENSP00000337839:K514R;ENSP00000443113:K224R	ENSP00000337839:K514R	K	+	2	0	ZCCHC7	37347174	0.789000	0.28775	0.928000	0.36995	0.410000	0.31052	0.291000	0.18994	-0.440000	0.07211	0.523000	0.50628	AAG		0.433	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		31	57	0	0	0	1	0	31	57				
SLITRK5	26050	broad.mit.edu	37	13	88327881	88327881	+	Missense_Mutation	SNP	C	C	T	rs149899708		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr13:88327881C>T	ENST00000325089.6	+	2	457	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	80					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.R80S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TAGCCCTCCCCGTTTCCCAAT	0.458																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.R80S(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(238-240)Cgt>Tgt		SLIT and NTRK-like family, member 5		C	CYS/ARG	0,4406		0,0,2203	164.0	163.0	163.0		238	5.1	1.0	13	dbSNP_134	163	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLITRK5	NM_015567.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	80/959	88327881	1,13005	2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327881C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.238C>T	13.37:g.88327881C>T	ENSP00000366283:p.Arg80Cys					SLITRK5_ENST00000400028.3_Intron	p.R80C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	457	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		80					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.238C>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992537	0.54041	0.0	1.16E-4	ENSG00000165300	ENST00000325089	T	0.51574	0.7	5.94	5.05	0.67936	.	0.257891	0.37178	N	0.002203	T	0.47002	0.1422	L	0.47016	1.485	0.80722	D	1	P	0.45715	0.865	P	0.46339	0.513	T	0.31475	-0.9942	9	.	.	.	-6.4802	13.6475	0.62290	0.1554:0.8446:0.0:0.0	.	80	O94991	SLIK5_HUMAN	C	80	ENSP00000366283:R80C	.	R	+	1	0	SLITRK5	87125882	0.992000	0.36948	0.998000	0.56505	0.939000	0.58152	3.261000	0.51530	2.826000	0.97356	0.561000	0.74099	CGT		0.458	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			85	155	0	0	0	1	0	85	155				
C1orf168	199920	broad.mit.edu	37	1	57252860	57252860	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:57252860A>C	ENST00000343433.6	-	4	1021	c.941T>G	c.(940-942)cTg>cGg	p.L314R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	314										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTCTGGAGACAGGGAGCCCTC	0.488																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(940-942)cTg>cGg		chromosome 1 open reading frame 168							121.0	108.0	112.0					1																	57252860		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57252860A>C	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.941T>G	1.37:g.57252860A>C	ENSP00000345972:p.Leu314Arg					C1orf168_ENST00000484327.1_5'UTR	p.L314R	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			4	1021	-			314					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.941T>G	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	A	14.47	2.544345	0.45280	.	.	ENSG00000187889	ENST00000343433	T	0.54279	0.58	5.26	0.152	0.14893	.	1.376160	0.05151	N	0.495985	T	0.45034	0.1322	L	0.29908	0.895	0.09310	N	1	P	0.49358	0.923	P	0.49276	0.605	T	0.29579	-1.0007	10	0.25106	T	0.35	4.0872	4.4375	0.11557	0.4953:0.3292:0.1755:0.0	.	314	Q5VWT5	CA168_HUMAN	R	314	ENSP00000345972:L314R	ENSP00000345972:L314R	L	-	2	0	C1orf168	57025448	0.120000	0.22244	0.005000	0.12908	0.002000	0.02628	0.504000	0.22626	-0.125000	0.11703	-0.379000	0.06801	CTG		0.488	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		27	75	0	0	0	1	0	27	75				
PPIAL4G	644591	broad.mit.edu	37	1	143767832	143767832	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:143767832A>G	ENST00000419275.1	-	1	49	c.17T>C	c.(16-18)aTc>aCc	p.I6T		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	6				I -> V (in Ref. 2; AAI30379/AAI30377). {ECO:0000305}.	protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTCAAAAAAGATGACGGAGTT	0.478																																						ENST00000419275.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						c.(16-18)aTc>aCc		peptidylprolyl isomerase A (cyclophilin A)-like 4G							146.0	131.0	135.0					1																	143767832		1568	3580	5148	SO:0001583	missense	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767832A>G		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.17T>C	1.37:g.143767832A>G	ENSP00000393845:p.Ile6Thr						p.I6T	NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN			1	49	-			6	I -> V (in Ref. 2; AAI30379/AAI30377).				A1L431	Missense_Mutation	SNP	ENST00000419275.1	37	c.17T>C	CCDS41375.1	.	.	.	.	.	.	.	.	.	.	.	7.534	0.659333	0.14645	.	.	ENSG00000236334	ENST00000419275	T	0.43294	0.95	0.523	0.523	0.17060	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (1);Cyclophilin-like (1);	0.172255	0.36482	U	0.002563	T	0.07908	0.0198	N	0.11106	0.095	0.09310	N	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.25537	-1.0129	10	0.87932	D	0	.	5.3961	0.16271	0.9999:0.0:1.0E-4:0.0	.	6	A2BFH1	PAL4G_HUMAN	T	6	ENSP00000393845:I6T	ENSP00000393845:I6T	I	-	2	0	PPIAL4G	142559355	0.204000	0.23447	0.000000	0.03702	0.001000	0.01503	4.126000	0.57937	0.493000	0.27837	0.331000	0.21540	ATC		0.478	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		5	181	0	0	0	1	0	5	181				
ADAM29	11086	broad.mit.edu	37	4	175898404	175898404	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr4:175898404C>A	ENST00000359240.3	+	5	2398	c.1728C>A	c.(1726-1728)ttC>ttA	p.F576L	ADAM29_ENST00000445694.1_Missense_Mutation_p.F576L|ADAM29_ENST00000404450.4_Missense_Mutation_p.F576L|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.F576L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	576	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGGCTCGCTTCAATGACATAA	0.408																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(1726-1728)ttC>ttA		ADAM metallopeptidase domain 29							192.0	178.0	183.0					4																	175898404		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898404C>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1728C>A	4.37:g.175898404C>A	ENSP00000352177:p.Phe576Leu					ADAM29_ENST00000514159.1_Missense_Mutation_p.F576L|ADAM29_ENST00000445694.1_Missense_Mutation_p.F576L|ADAM29_ENST00000404450.4_Missense_Mutation_p.F576L	p.F576L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2398	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	576			Cys-rich.		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1728C>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708308	0.30322	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	3.69	3.69	0.42338	ADAM, cysteine-rich (2);	1.335080	0.05572	U	0.571299	T	0.17492	0.0420	N	0.20304	0.555	0.09310	N	1	B	0.27951	0.195	B	0.28916	0.096	T	0.12811	-1.0533	9	.	.	.	.	13.721	0.62728	0.0:1.0:0.0:0.0	.	576	Q9UKF5	ADA29_HUMAN	L	576	ENSP00000352177:F576L;ENSP00000414544:F576L;ENSP00000384229:F576L;ENSP00000423517:F576L	.	F	+	3	2	ADAM29	176134979	0.000000	0.05858	0.063000	0.19743	0.029000	0.11900	-0.389000	0.07342	2.351000	0.79841	0.643000	0.83706	TTC		0.408	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				71	56	1	0	2.94884e-30	1	4.2375e-30	71	56				
ZNF551	90233	broad.mit.edu	37	19	58199496	58199496	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:58199496G>A	ENST00000282296.5	+	3	2038	c.1853G>A	c.(1852-1854)aGt>aAt	p.S618N	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S602N			Q7Z340	ZN551_HUMAN	zinc finger protein 551	618					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATGAGTGCAGTCAATGTGGG	0.453																																						ENST00000282296.5																			0				endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15						c.(1852-1854)aGt>aAt		zinc finger protein 551							103.0	103.0	103.0					19																	58199496		2203	4300	6503	SO:0001583	missense	90233				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58199496G>A	BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.1853G>A	19.37:g.58199496G>A	ENSP00000282296:p.Ser618Asn					ZNF551_ENST00000356715.4_Missense_Mutation_p.S602N|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.S618N	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	2038	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	618					B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	c.1853G>A	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	G	7.345	0.621731	0.14193	.	.	ENSG00000204519	ENST00000356715;ENST00000282296;ENST00000359821	.	.	.	2.51	-2.4	0.06583	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27454	0.0674	L	0.41124	1.26	0.09310	N	1	B	0.26672	0.156	B	0.33121	0.158	T	0.36841	-0.9731	8	0.08837	T	0.75	.	4.9516	0.14017	0.587:0.1778:0.2352:0.0	.	618	Q7Z340	ZN551_HUMAN	N	618;602;401	.	ENSP00000282296:S602N	S	+	2	0	ZNF551	62891308	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-4.952000	0.00166	-0.317000	0.08677	-0.258000	0.10820	AGT		0.453	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		69	85	0	0	0	1	0	69	85				
STARD7	56910	broad.mit.edu	37	2	96858995	96858995	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:96858995C>T	ENST00000337288.5	-	4	1028	c.645G>A	c.(643-645)tgG>tgA	p.W215*	STARD7_ENST00000462501.1_Intron	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	215	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						AATGGGTTACCCAGTGAAGAA	0.428																																						ENST00000337288.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						c.(643-645)tgG>tgA		StAR-related lipid transfer (START) domain containing 7							134.0	127.0	129.0					2																	96858995		2203	4300	6503	SO:0001587	stop_gained	56910					mitochondrion		g.chr2:96858995C>T	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.645G>A	2.37:g.96858995C>T	ENSP00000338030:p.Trp215*					STARD7_ENST00000462501.1_Intron	p.W215*	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN			4	1028	-			215			START.		D3DXG9|Q53T44|Q6GU43|Q969M6	Nonsense_Mutation	SNP	ENST00000337288.5	37	c.645G>A	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	C	39	7.392429	0.98255	.	.	ENSG00000084090	ENST00000337288;ENST00000443962	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.6292	17.5338	0.87822	0.0:1.0:0.0:0.0	.	.	.	.	X	215;114	.	ENSP00000338030:W215X	W	-	3	0	STARD7	96222722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.217000	0.77982	2.733000	0.93635	0.655000	0.94253	TGG		0.428	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			60	74	0	0	0	1	0	60	74				
PCLO	27445	broad.mit.edu	37	7	82544969	82544969	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:82544969C>A	ENST00000333891.9	-	7	12670	c.12333G>T	c.(12331-12333)gaG>gaT	p.E4111D	PCLO_ENST00000437081.1_Missense_Mutation_p.E831D|PCLO_ENST00000423517.2_Missense_Mutation_p.E4111D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGGTCTTCCTCCGCCTTCA	0.463																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12331-12333)gaG>gaT		piccolo presynaptic cytomatrix protein							67.0	61.0	63.0					7																	82544969		1885	4100	5985	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544969C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12333G>T	7.37:g.82544969C>A	ENSP00000334319:p.Glu4111Asp					PCLO_ENST00000437081.1_Missense_Mutation_p.E831D|PCLO_ENST00000333891.8_Missense_Mutation_p.E4111D	p.E4111D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	12670	-			4042						Missense_Mutation	SNP	ENST00000333891.9	37	c.12333G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.454	0.643309	0.14451	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18657	2.2;2.2	5.57	-0.183	0.13284	.	.	.	.	.	T	0.09862	0.0242	N	0.17345	0.48	0.35396	D	0.791143	B;B;B	0.16166	0.001;0.016;0.016	B;B;B	0.14578	0.002;0.011;0.011	T	0.22277	-1.0221	9	0.87932	D	0	.	0.7875	0.01051	0.2837:0.2314:0.1063:0.3786	.	4042;4111;4111	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	D	4111;4111;831	ENSP00000334319:E4111D;ENSP00000388393:E4111D	ENSP00000334319:E4111D	E	-	3	2	PCLO	82382905	0.962000	0.33011	1.000000	0.80357	0.846000	0.48090	0.142000	0.16096	0.320000	0.23234	-0.259000	0.10710	GAG		0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	30	1	0	1.06961e-07	1	1.19574e-07	7	30				
CAMTA2	23125	broad.mit.edu	37	17	4883494	4883494	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr17:4883494A>C	ENST00000348066.3	-	9	1246	c.1123T>G	c.(1123-1125)Ttt>Gtt	p.F375V	CAMTA2_ENST00000381311.5_Missense_Mutation_p.F377V|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F375V|CAMTA2_ENST00000572543.1_Missense_Mutation_p.F380V|CAMTA2_ENST00000414043.3_Missense_Mutation_p.F398V|CAMTA2_ENST00000361571.5_Missense_Mutation_p.F374V	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	375					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCAGGGTCAAAGGCAGGACTG	0.607																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1120-1122)Ttt>Gtt		calmodulin binding transcription activator 2							43.0	45.0	44.0					17																	4883494		2202	4300	6502	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4883494A>C	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.1123T>G	17.37:g.4883494A>C	ENSP00000321813:p.Phe375Val					CAMTA2_ENST00000572543.1_Missense_Mutation_p.F380V|CAMTA2_ENST00000348066.3_Missense_Mutation_p.F375V|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F377V|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F375V|CAMTA2_ENST00000414043.3_Missense_Mutation_p.F398V	p.F374V	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			8	1531	-			375					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.1120T>G	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.127059	0.77549	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000007	T	0.60038	0.2238	L	0.32530	0.975	0.43480	D	0.9957	D;D;D;D;D	0.63046	0.987;0.987;0.992;0.987;0.981	D;D;D;D;D	0.71656	0.942;0.942;0.974;0.942;0.962	T	0.63791	-0.6557	10	0.87932	D	0	-10.9778	11.9717	0.53067	1.0:0.0:0.0:0.0	.	351;398;377;375;374	B7ZM30;E7EWU5;O94983-3;O94983;O94983-4	.;.;.;CMTA2_HUMAN;.	V	398;377;374;375;375	ENSP00000412886:F398V;ENSP00000370712:F377V;ENSP00000354828:F374V;ENSP00000350910:F375V;ENSP00000321813:F375V	ENSP00000321813:F375V	F	-	1	0	CAMTA2	4824218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.453000	0.90349	1.934000	0.56057	0.533000	0.62120	TTT		0.607	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		57	50	0	0	0	1	0	57	50				
MORC1	27136	broad.mit.edu	37	3	108788584	108788584	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:108788584A>T	ENST00000483760.1	-	9	753	c.710T>A	c.(709-711)tTc>tAc	p.F237Y	MORC1_ENST00000232603.5_Missense_Mutation_p.F237Y					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTAGGCTCTGAATGACCACCT	0.363																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(709-711)tTc>tAc		MORC family CW-type zinc finger 1							96.0	93.0	94.0					3																	108788584		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108788584A>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.710T>A	3.37:g.108788584A>T	ENSP00000417282:p.Phe237Tyr					MORC1_ENST00000483760.1_Missense_Mutation_p.F237Y	p.F237Y	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			9	792	-			237						Missense_Mutation	SNP	ENST00000483760.1	37	c.710T>A		.	.	.	.	.	.	.	.	.	.	A	20.2	3.953274	0.73902	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.73258	-0.73;-0.73	4.93	4.93	0.64822	ATPase-like, ATP-binding domain (1);	0.000000	0.50627	D	0.000113	D	0.82788	0.5113	M	0.82630	2.6	0.38335	D	0.943917	D;D	0.69078	0.996;0.997	P;D	0.66196	0.867;0.942	D	0.85062	0.0935	10	0.40728	T	0.16	-16.0214	12.8542	0.57876	1.0:0.0:0.0:0.0	.	237;237	E7ERX1;Q86VD1	.;MORC1_HUMAN	Y	237	ENSP00000232603:F237Y;ENSP00000417282:F237Y	ENSP00000232603:F237Y	F	-	2	0	MORC1	110271274	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.715000	0.84713	2.192000	0.70111	0.533000	0.62120	TTC		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			11	46	0	0	0	1	0	11	46				
GRIK2	2898	broad.mit.edu	37	6	102130436	102130436	+	Silent	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:102130436T>A	ENST00000421544.1	+	5	1222	c.732T>A	c.(730-732)gcT>gcA	p.A244A	GRIK2_ENST00000369138.1_Silent_p.A244A|GRIK2_ENST00000369137.3_Silent_p.A244A|GRIK2_ENST00000318991.6_Silent_p.A244A|GRIK2_ENST00000413795.1_Silent_p.A244A|GRIK2_ENST00000358361.3_Silent_p.A244A|GRIK2_ENST00000369134.4_Silent_p.A195A	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	244					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGGCATTAGCTATGGGAATGA	0.289																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(730-732)gcT>gcA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						50.0	57.0	54.0					6																	102130436		2188	4259	6447	SO:0001819	synonymous_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102130436T>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.732T>A	6.37:g.102130436T>A						GRIK2_ENST00000369134.4_Silent_p.A195A|GRIK2_ENST00000318991.6_Silent_p.A244A|GRIK2_ENST00000421544.1_Silent_p.A244A|GRIK2_ENST00000369137.3_Silent_p.A244A|GRIK2_ENST00000413795.1_Silent_p.A244A|GRIK2_ENST00000358361.3_Silent_p.A244A	p.A244A	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	5	1222	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	244					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	c.732T>A	CCDS5048.1																																																																																				0.289	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			16	37	0	0	0	1	0	16	37				
DLC1	10395	broad.mit.edu	37	8	12957281	12957281	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:12957281G>T	ENST00000276297.4	-	9	2974	c.2565C>A	c.(2563-2565)aaC>aaA	p.N855K	DLC1_ENST00000358919.2_Missense_Mutation_p.N418K|DLC1_ENST00000520226.1_Missense_Mutation_p.N344K|DLC1_ENST00000512044.2_Missense_Mutation_p.N452K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	855	Focal adhesion-targeting (FAT).				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGTCGCTACTGTTTTCCCTCC	0.582																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2563-2565)aaC>aaA		deleted in liver cancer 1							70.0	64.0	66.0					8																	12957281		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957281G>T	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2565C>A	8.37:g.12957281G>T	ENSP00000276297:p.Asn855Lys					DLC1_ENST00000358919.2_Missense_Mutation_p.N418K|DLC1_ENST00000512044.2_Missense_Mutation_p.N452K|DLC1_ENST00000520226.1_Missense_Mutation_p.N344K	p.N855K	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2974	-			855					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2565C>A	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.304976	0.00240	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.04970	3.76;3.52;3.52;3.52	4.51	3.64	0.41730	.	0.131624	0.52532	D	0.000080	T	0.05410	0.0143	L	0.31926	0.97	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.09377	0.0;0.002;0.004	T	0.36237	-0.9756	10	0.20519	T	0.43	.	10.8628	0.46835	0.0739:0.1306:0.7955:0.0	.	855;452;418	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	K	855;418;452;344	ENSP00000276297:N855K;ENSP00000351797:N418K;ENSP00000422595:N452K;ENSP00000428028:N344K	ENSP00000276297:N855K	N	-	3	2	DLC1	13001652	1.000000	0.71417	0.980000	0.43619	0.142000	0.21351	3.928000	0.56506	1.505000	0.48720	-0.150000	0.13652	AAC		0.582	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		24	34	1	0	1.96895e-08	1	2.22153e-08	24	34				
PRDM9	56979	broad.mit.edu	37	5	23509171	23509171	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:23509171G>T	ENST00000296682.3	+	2	211	c.29G>T	c.(28-30)aGc>aTc	p.S10I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	10					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAAGAGGAGAGCCCAGAAGAA	0.562										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(28-30)aGc>aTc		PR domain containing 9							79.0	86.0	84.0					5																	23509171		1924	4141	6065	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23509171G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.29G>T	5.37:g.23509171G>T	ENSP00000296682:p.Ser10Ile	HNSCC(3;0.000094)					p.S10I	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			2	211	+			10					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.29G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	7.903	0.734732	0.15574	.	.	ENSG00000164256	ENST00000502755;ENST00000296682	T;T	0.10668	2.85;2.95	1.77	-0.333	0.12671	.	.	.	.	.	T	0.07052	0.0179	L	0.34521	1.04	0.09310	N	1	D	0.55172	0.97	B	0.40702	0.338	T	0.28522	-1.0041	9	0.87932	D	0	.	2.8161	0.05456	0.2067:0.3038:0.4895:0.0	.	10	Q9NQV7	PRDM9_HUMAN	I	10	ENSP00000425471:S10I;ENSP00000296682:S10I	ENSP00000296682:S10I	S	+	2	0	PRDM9	23544928	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.187000	0.16998	-0.099000	0.12263	0.511000	0.50034	AGC		0.562	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		19	24	1	0	3.51602e-12	1	4.25654e-12	19	24				
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862813	10862813	+	RNA	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr21:10862813G>T	ENST00000559480.1	+	0	109							A6NJS3	IV1U1_HUMAN	immunoglobulin heavy variable 1/OR21-1 (non-functional)							extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TGGGGCCTCAGTGAAGGTCTC	0.562																																						ENST00000559480.1																			0				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26															190.0	183.0	185.0					21																	10862813		1985	4170	6155			390530							g.chr21:10862813G>T			21p11.2	2014-05-06	2010-11-09		ENSG00000169861	ENSG00000277282		"""Immunoglobulins / IGH orphons"""	38040	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR21-1 pseudogene"""				Standard	NG_011680		Approved	IGHV1/OR21-1		A6NJS3	OTTHUMG00000188295		21.37:g.10862813G>T														0	109	+									RNA	SNP	ENST00000559480.1	37																																																																																						0.562	IGHV1OR21-1-201	KNOWN	basic|appris_principal	IG_V_gene	IG_V_gene		NG_011680		40	270	1	0	5.7616e-29	1	8.23086e-29	40	270				
LRRC37A6P	387646	broad.mit.edu	37	10	27535632	27535632	+	lincRNA	SNP	A	A	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:27535632A>G	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TCCATCTTCAAGGTCCGGATA	0.502																																						ENST00000574842.1																			0																																																			387646							g.chr10:27535632A>G																													10.37:g.27535632A>G														0	255	+									RNA	SNP	ENST00000574842.1	37																																																																																						0.502	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1			81	182	0	0	0	1	0	81	182				
NSUN2	54888	broad.mit.edu	37	5	6625745	6625745	+	Silent	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:6625745G>T	ENST00000264670.6	-	4	708	c.397C>A	c.(397-399)Cga>Aga	p.R133R	NSUN2_ENST00000506139.1_Silent_p.R98R|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000505264.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	133					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AAGATTTTTCGACTTAAATTT	0.343																																						ENST00000264670.6																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(397-399)Cga>Aga		NOP2/Sun RNA methyltransferase family, member 2							102.0	100.0	101.0					5																	6625745		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6625745G>T	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.397C>A	5.37:g.6625745G>T						NSUN2_ENST00000505264.1_5'UTR|NSUN2_ENST00000539938.1_5'UTR|NSUN2_ENST00000506139.1_Silent_p.R98R	p.R133R	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN			4	708	-			133					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.397C>A	CCDS3869.1																																																																																				0.343	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		34	20	1	0	2.5098e-30	1	3.61372e-30	34	20				
ZNF560	147741	broad.mit.edu	37	19	9578249	9578249	+	Silent	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:9578249C>T	ENST00000301480.4	-	10	1587	c.1374G>A	c.(1372-1374)aaG>aaA	p.K458K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GCTCATATGGCTTCTCTCCAT	0.413																																						ENST00000301480.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1372-1374)aaG>aaA		zinc finger protein 560							181.0	196.0	191.0					19																	9578249		2203	4300	6503	SO:0001819	synonymous_variant	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9578249C>T	AK056548	CCDS12214.1	19p13.2	2013-09-20			ENSG00000198028	ENSG00000198028		"""Zinc fingers, C2H2-type"", ""-"""	26484	protein-coding gene	gene with protein product							Standard	NM_152476		Approved	FLJ31986	uc002mlp.1	Q96MR9	OTTHUMG00000180130	ENST00000301480.4:c.1374G>A	19.37:g.9578249C>T							p.K458K	NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN			10	1587	-			458					Q495S9|Q495T1	Silent	SNP	ENST00000301480.4	37	c.1374G>A	CCDS12214.1																																																																																				0.413	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		77	146	0	0	0	1	0	77	146				
ARMC6	93436	broad.mit.edu	37	19	19166153	19166153	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:19166153G>T	ENST00000535612.1	+	7	1535	c.1103G>T	c.(1102-1104)gGt>gTt	p.G368V	ARMC6_ENST00000546344.1_Missense_Mutation_p.G275V|ARMC6_ENST00000269932.6_Missense_Mutation_p.G343V|ARMC6_ENST00000392336.3_Missense_Mutation_p.G368V|ARMC6_ENST00000392335.2_Missense_Mutation_p.G343V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	368					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GTCCGTGCTGGTGGGACGGAG	0.627																																						ENST00000535612.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14						c.(1102-1104)gGt>gTt		armadillo repeat containing 6							121.0	95.0	104.0					19																	19166153		2203	4300	6503	SO:0001583	missense	93436						protein binding	g.chr19:19166153G>T	BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1103G>T	19.37:g.19166153G>T	ENSP00000444156:p.Gly368Val					ARMC6_ENST00000392335.2_Missense_Mutation_p.G343V|ARMC6_ENST00000269932.6_Missense_Mutation_p.G343V|ARMC6_ENST00000392336.3_Missense_Mutation_p.G368V|ARMC6_ENST00000546344.1_Missense_Mutation_p.G275V	p.G368V	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)		7	1535	+			368					B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	ENST00000535612.1	37	c.1103G>T	CCDS56089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.12|17.12	3.307042|3.307042	0.60305|0.60305	.|.	.|.	ENSG00000105676|ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336|ENST00000535478;ENST00000535795	T;T;T;T;T|.	0.54279|.	0.58;0.58;0.58;0.58;0.58|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82779|0.82779	0.5111|0.5111	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	D|D	0.85678|0.85678	0.1299|0.1299	10|5	0.87932|.	D|.	0|.	-32.3197|-32.3197	17.0086|17.0086	0.86400|0.86400	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	368|.	Q6NXE6|.	ARMC6_HUMAN|.	V|C	343;368;343;275;279;368|57;31	ENSP00000376147:G343V;ENSP00000444156:G368V;ENSP00000269932:G343V;ENSP00000444341:G275V;ENSP00000376148:G368V|.	ENSP00000269932:G343V|.	G|W	+|+	2|3	0|0	ARMC6|ARMC6	19027153|19027153	1.000000|1.000000	0.71417|0.71417	0.063000|0.063000	0.19743|0.19743	0.100000|0.100000	0.18952|0.18952	9.277000|9.277000	0.95755|0.95755	2.271000|2.271000	0.75665|0.75665	0.563000|0.563000	0.77884|0.77884	GGT|TGG		0.627	ARMC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403226.1	NM_033415		40	70	1	0	6.5261e-18	1	8.61493e-18	40	70				
SYTL5	94122	broad.mit.edu	37	X	37985955	37985955	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:37985955G>A	ENST00000357972.5	+	17	2711	c.2165G>A	c.(2164-2166)cGt>cAt	p.R722H	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R722H|SYTL5_ENST00000456733.2_Missense_Mutation_p.R744H			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	722					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CTCATGCTTCGTTCCAGCATG	0.512																																						ENST00000357972.5																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(2164-2166)cGt>cAt		synaptotagmin-like 5							70.0	50.0	57.0					X																	37985955		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37985955G>A		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.2165G>A	X.37:g.37985955G>A	ENSP00000350657:p.Arg722His					SYTL5_ENST00000456733.2_Missense_Mutation_p.R744H|SYTL5_ENST00000297875.2_Missense_Mutation_p.R722H|TM4SF2_ENST00000465127.1_Intron	p.R722H			Q8TDW5	SYTL5_HUMAN			17	2711	+			722					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.2165G>A	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516130	0.96402	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.72725	-0.68;-0.68;-0.68	6.05	6.05	0.98169	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86875	0.6038	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.86760	0.1966	10	0.45353	T	0.12	-13.1037	19.4924	0.95056	0.0:0.0:1.0:0.0	.	744;722	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	H	722;722;744	ENSP00000297875:R722H;ENSP00000350657:R722H;ENSP00000395220:R744H	ENSP00000297875:R722H	R	+	2	0	SYTL5	37870899	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.824000	0.99380	2.558000	0.86282	0.594000	0.82650	CGT		0.512	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		11	12	0	0	0	1	0	11	12				
DGKI	9162	broad.mit.edu	37	7	137255999	137255999	+	Silent	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:137255999T>A	ENST00000288490.5	-	19	1869	c.1869A>T	c.(1867-1869)ccA>ccT	p.P623P	DGKI_ENST00000453654.2_Silent_p.P323P|DGKI_ENST00000446122.1_Silent_p.P623P|DGKI_ENST00000424189.2_Silent_p.P623P	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	623					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGTGATCACCTGGGTTTCCCC	0.408																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(967-969)ccA>ccT		diacylglycerol kinase, iota							80.0	77.0	78.0					7																	137255999		2203	4300	6503	SO:0001819	synonymous_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137255999T>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1869A>T	7.37:g.137255999T>A						DGKI_ENST00000446122.1_Silent_p.P623P|DGKI_ENST00000424189.2_Silent_p.P623P|DGKI_ENST00000288490.5_Silent_p.P623P	p.P323P			O75912	DGKI_HUMAN			19	1508	-			623					A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.969A>T	CCDS5845.1																																																																																				0.408	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		6	23	0	0	0	1	0	6	23				
ZNF99	7652	broad.mit.edu	37	19	22939269	22939269	+	IGR	SNP	C	C	A	rs74170734		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:22939269C>A	ENST00000596209.1	-	0	2686				ZNF99_ENST00000397104.3_Nonsense_Mutation_p.G968*|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTTCTTTCCAGTATGAATT	0.358																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2902-2904)Gga>Tga		zinc finger protein 99							31.0	42.0	39.0					19																	22939269		1939	4260	6199	SO:0001628	intergenic_variant	7652							g.chr19:22939269C>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939269C>A							p.G968*							7	2901	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Nonsense_Mutation	SNP	ENST00000596209.1	37	c.2902G>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	N	21.6	4.176703	0.78564	.	.	ENSG00000213973	ENST00000397104	.	.	.	1.17	-2.34	0.06704	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999966	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	6.3505	0.21373	0.0:0.6842:0.0:0.3158	.	.	.	.	X	968	.	ENSP00000380293:G968X	G	-	1	0	ZNF99	22731109	0.120000	0.22244	0.000000	0.03702	0.002000	0.02628	5.174000	0.65015	-1.170000	0.02769	-1.354000	0.01226	GGA		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		15	32	1	0	0.00316338	1	0.00325249	15	32				
PEG3	5178	broad.mit.edu	37	19	57327373	57327373	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:57327373T>C	ENST00000326441.9	-	10	2800	c.2437A>G	c.(2437-2439)Atc>Gtc	p.I813V	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.I689V|PEG3_ENST00000423103.2_Missense_Mutation_p.I813V|PEG3_ENST00000593695.1_Missense_Mutation_p.I687V|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	813					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGATGGTTGATAGCATCGAAG	0.473																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(2437-2439)Atc>Gtc		paternally expressed 3							137.0	130.0	133.0					19																	57327373		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327373T>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2437A>G	19.37:g.57327373T>C	ENSP00000326581:p.Ile813Val					ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.I689V|PEG3_ENST00000423103.2_Missense_Mutation_p.I813V|PEG3_ENST00000593695.1_Missense_Mutation_p.I687V|ZIM2_ENST00000599935.1_Intron	p.I813V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	2800	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	813					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2437A>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	9.369	1.070041	0.20147	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02606	4.23;4.23	4.11	-3.33	0.04958	.	0.954163	0.08658	N	0.912829	T	0.02455	0.0075	L	0.53249	1.67	.	.	.	B;B;P	0.35612	0.001;0.39;0.512	B;B;B	0.29716	0.001;0.088;0.106	T	0.37572	-0.9700	9	0.33141	T	0.24	-0.0108	1.775	0.03019	0.1528:0.3771:0.1568:0.3133	.	689;813;748	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	813	ENSP00000326581:I813V;ENSP00000403051:I813V	ENSP00000326581:I813V	I	-	1	0	ZIM2	62019185	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.587000	0.05780	-0.839000	0.04212	0.477000	0.44152	ATC		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			71	97	0	0	0	1	0	71	97				
NCOA5	57727	broad.mit.edu	37	20	44690980	44690980	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr20:44690980G>A	ENST00000290231.6	-	8	1863	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	567	Transcription activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GCCTGTGGCTGCCCCATCTGT	0.552																																						ENST00000290231.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(1699-1701)Cag>Tag		nuclear receptor coactivator 5							46.0	41.0	43.0					20																	44690980		2203	4300	6503	SO:0001587	stop_gained	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44690980G>A		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1699C>T	20.37:g.44690980G>A	ENSP00000290231:p.Gln567*						p.Q567*	NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN			8	1863	-		Myeloproliferative disorder(115;0.0122)	567			Transcription activation.		B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Nonsense_Mutation	SNP	ENST00000290231.6	37	c.1699C>T	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663305	0.47572	.	.	ENSG00000124160	ENST00000290231	.	.	.	5.65	1.36	0.22044	.	0.756604	0.13007	N	0.421163	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-12.2891	5.6625	0.17676	0.1393:0.0:0.4564:0.4042	.	.	.	.	X	567	.	ENSP00000290231:Q567X	Q	-	1	0	NCOA5	44124387	0.387000	0.25188	0.830000	0.32933	0.017000	0.09413	2.401000	0.44513	0.128000	0.18479	-0.140000	0.14226	CAG		0.552	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967		4	53	0	0	0	1	0	4	53				
PLXNA4	91584	broad.mit.edu	37	7	131815313	131815313	+	Silent	SNP	G	G	A	rs550735539		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:131815313G>A	ENST00000359827.3	-	32	6572	c.5610C>T	c.(5608-5610)caC>caT	p.H1870H	PLXNA4_ENST00000321063.4_Silent_p.H1870H			Q9HCM2	PLXA4_HUMAN	plexin A4	1870					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTGGTCATCGTGGTCCAGAG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		23163	0.0		0.001	False		,,,				2504	0.0					ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(5608-5610)caC>caT		plexin A4							158.0	160.0	160.0					7																	131815313		2017	4162	6179	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131815313G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5610C>T	7.37:g.131815313G>A						PLXNA4_ENST00000321063.4_Silent_p.H1870H	p.H1870H			Q9HCM2	PLXA4_HUMAN			32	6572	-			1870					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.5610C>T	CCDS43646.1																																																																																				0.527	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		16	52	0	0	0	1	0	16	52				
MALAT1	378938	broad.mit.edu	37	11	65266592	65266592	+	lincRNA	SNP	T	T	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:65266592T>A	ENST00000534336.1	+	0	1360				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ATAAGTTTTTTTCTCTTTGAA	0.428																																						ENST00000534336.1																			0																				50.0	55.0	53.0					11																	65266592		874	1988	2862			378938							g.chr11:65266592T>A	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266592T>A								NR_002819.2						0	1360	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.428	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		25	63	0	0	0	1	0	25	63				
ASPDH	554235	broad.mit.edu	37	19	51015734	51015734	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:51015734G>C	ENST00000389208.4	-	5	597	c.536C>G	c.(535-537)cCt>cGt	p.P179R	JOSD2_ENST00000595669.1_5'Flank|JOSD2_ENST00000391815.3_5'Flank|ASPDH_ENST00000376916.3_Missense_Mutation_p.P74R|ASPDH_ENST00000597030.1_5'UTR|JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	179					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						CCCACGGACAGGGCCTTCGTA	0.672																																						ENST00000389208.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(535-537)cCt>cGt		aspartate dehydrogenase domain containing							23.0	29.0	27.0					19																	51015734		2203	4300	6503	SO:0001583	missense	554235				NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding	g.chr19:51015734G>C		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.536C>G	19.37:g.51015734G>C	ENSP00000373860:p.Pro179Arg					ASPDH_ENST00000376916.3_Missense_Mutation_p.P74R|ASPDH_ENST00000597030.1_5'UTR	p.P179R	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN			5	597	-			179					Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	37	c.536C>G	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128848	0.77549	.	.	ENSG00000204653	ENST00000376916;ENST00000389208	T;T	0.41400	1.0;1.0	3.9	3.9	0.45041	Aspartate dehydrogenase (1);	0.090474	0.46442	D	0.000284	T	0.56247	0.1972	L	0.52206	1.635	0.42239	D	0.991929	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.60419	-0.7267	10	0.87932	D	0	-14.5514	11.763	0.51914	0.0:0.0:1.0:0.0	.	179;74	A6ND91;A6ND91-2	ASPD_HUMAN;.	R	74;179	ENSP00000366114:P74R;ENSP00000373860:P179R	ENSP00000366114:P74R	P	-	2	0	ASPDH	55707546	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.779000	0.55379	1.908000	0.55244	0.561000	0.74099	CCT		0.672	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656		18	13	0	0	0	1	0	18	13				
CAPN13	92291	broad.mit.edu	37	2	30966288	30966288	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:30966288A>C	ENST00000295055.8	-	13	1582	c.1406T>G	c.(1405-1407)tTc>tGc	p.F469C	CAPN13_ENST00000534090.2_Missense_Mutation_p.F469C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	469					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCGGAGCAAGAACTCCGCTGA	0.418																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1405-1407)tTc>tGc		calpain 13							252.0	242.0	245.0					2																	30966288		1885	4129	6014	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30966288A>C		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1406T>G	2.37:g.30966288A>C	ENSP00000295055:p.Phe469Cys					CAPN13_ENST00000534090.2_Missense_Mutation_p.F469C	p.F469C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			13	1582	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		469					Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1406T>G	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769070	0.49680	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.97279	-4.32;-4.32	5.52	4.34	0.51931	Peptidase C2, calpain, large subunit, domain III (2);	0.380726	0.32563	N	0.005925	D	0.97306	0.9119	L	0.52011	1.625	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96927	0.9678	10	0.87932	D	0	.	9.6691	0.40002	0.8445:0.0:0.0:0.1554	.	469;469	A8K2N3;Q6MZZ7	.;CAN13_HUMAN	C	469	ENSP00000295055:F469C;ENSP00000431298:F469C	ENSP00000295055:F469C	F	-	2	0	CAPN13	30819792	1.000000	0.71417	0.840000	0.33206	0.426000	0.31534	3.507000	0.53371	0.899000	0.36444	0.459000	0.35465	TTC		0.418	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		252	110	0	0	0	1	0	252	110				
TCL1B	9623	broad.mit.edu	37	14	96152766	96152766	+	De_novo_Start_OutOfFrame	SNP	C	C	A	rs578182696		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr14:96152766C>A	ENST00000340722.7	+	0	13				RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B											cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GAAAGCTACACGTGTGAGCCT	0.697																																						ENST00000340722.7																			0				cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13								T-cell leukemia/lymphoma 1B							69.0	79.0	76.0					14																	96152766		2203	4300	6503			9623							g.chr14:96152766C>A	AB018563	CCDS32151.1	14q32.1	2008-09-05			ENSG00000213231	ENSG00000213231			11649	protein-coding gene	gene with protein product		603769				10077617	Standard	NM_004918		Approved	TML1	uc001yez.3	O95988	OTTHUMG00000028912	ENST00000340722.7:c.-39C>A	14.37:g.96152766C>A						RP11-1070N10.6_ENST00000461160.1_RNA		NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)	0	13	+		all_cancers(154;0.103)						A6NEK7|Q6IAR7|Q9UBQ4	Translation_Start_Site	SNP	ENST00000340722.7	37		CCDS32151.1																																																																																				0.697	TCL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315123.2			24	24	1	0	1.48734e-19	1	1.99955e-19	24	24				
PCNT	5116	broad.mit.edu	37	21	47805845	47805845	+	Silent	SNP	C	C	T	rs375993930		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr21:47805845C>T	ENST00000359568.5	+	17	3518	c.3411C>T	c.(3409-3411)ggC>ggT	p.G1137G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1137					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCGGGAAGGCGCAAACCTCC	0.607																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(3409-3411)ggC>ggT		pericentrin		C		0,4406		0,0,2203	150.0	118.0	129.0		3411	-10.0	0.0	21		129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PCNT	NM_006031.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1137/3337	47805845	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47805845C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.3411C>T	21.37:g.47805845C>T						PCNT_ENST00000480896.1_3'UTR	p.G1137G	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			17	3518	+	Breast(49;0.112)		1137					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.3411C>T	CCDS33592.1																																																																																				0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		51	80	0	0	0	1	0	51	80				
LRP11	84918	broad.mit.edu	37	6	150157414	150157414	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:150157414C>T	ENST00000239367.2	-	5	1064	c.1059G>A	c.(1057-1059)atG>atA	p.M353I	LRP11_ENST00000463728.1_5'Flank|LRP11_ENST00000546019.1_Missense_Mutation_p.M98I	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	353						integral component of membrane (GO:0016021)				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		TGTGGGTTACCATCTTGCGGT	0.507																																						ENST00000239367.2																			0				cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8						c.(1057-1059)atG>atA		low density lipoprotein receptor-related protein 11							75.0	68.0	71.0					6																	150157414		2203	4300	6503	SO:0001583	missense	84918					integral to membrane	receptor activity	g.chr6:150157414C>T	AK027641	CCDS5220.1	6q24.3	2013-02-27			ENSG00000120256	ENSG00000120256		"""Low density lipoprotein receptors"""	16936	protein-coding gene	gene with protein product							Standard	NM_032832		Approved	bA350J20.3, MANSC3	uc003qng.2	Q86VZ4	OTTHUMG00000015801	ENST00000239367.2:c.1059G>A	6.37:g.150157414C>T	ENSP00000239367:p.Met353Ile					LRP11_ENST00000546019.1_Missense_Mutation_p.M98I	p.M353I	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)	5	1064	-		Ovarian(120;0.0907)	353					Q5VYC0|Q96SN6	Missense_Mutation	SNP	ENST00000239367.2	37	c.1059G>A	CCDS5220.1	.	.	.	.	.	.	.	.	.	.	C	9.817	1.184658	0.21870	.	.	ENSG00000120256	ENST00000239367;ENST00000546019	T;D	0.96168	3.69;-3.93	5.93	4.89	0.63831	.	0.516989	0.22766	N	0.055900	D	0.88273	0.6392	L	0.51422	1.61	0.21256	N	0.999742	B	0.14438	0.01	B	0.12156	0.007	T	0.78650	-0.2121	10	0.37606	T	0.19	-8.3857	9.2717	0.37675	0.0:0.8547:0.0:0.1453	.	353	Q86VZ4	LRP11_HUMAN	I	353;98	ENSP00000239367:M353I;ENSP00000440196:M98I	ENSP00000239367:M353I	M	-	3	0	LRP11	150199107	0.503000	0.26115	0.934000	0.37439	0.403000	0.30841	0.316000	0.19469	2.814000	0.96858	0.563000	0.77884	ATG		0.507	LRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042664.1	NM_032832		16	36	0	0	0	1	0	16	36				
PDCD7	10081	broad.mit.edu	37	15	65412286	65412286	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr15:65412286C>T	ENST00000204549.4	-	3	1070	c.1016G>A	c.(1015-1017)tGt>tAt	p.C339Y		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	339					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GGCTGGAGGACAGACCCCTGG	0.458																																						ENST00000204549.4																			0				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(1015-1017)tGt>tAt		programmed cell death 7							111.0	130.0	124.0					15																	65412286		2202	4299	6501	SO:0001583	missense	10081				apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex		g.chr15:65412286C>T	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1016G>A	15.37:g.65412286C>T	ENSP00000204549:p.Cys339Tyr						p.C339Y	NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN			3	1070	-			339					Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	c.1016G>A	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	C	1.389	-0.581356	0.03854	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	5.33	4.39	0.52855	.	0.330746	0.27861	N	0.017551	T	0.45696	0.1355	L	0.46157	1.445	0.40871	D	0.983919	P	0.49635	0.926	P	0.47430	0.547	T	0.49390	-0.8945	9	0.02654	T	1	-4.3036	11.0861	0.48089	0.145:0.7154:0.1396:0.0	.	339	Q8N8D1	PDCD7_HUMAN	Y	339;124;133	.	ENSP00000204549:C339Y	C	-	2	0	PDCD7	63199339	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	1.672000	0.37523	1.329000	0.45376	0.563000	0.77884	TGT		0.458	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707		58	163	0	0	0	1	0	58	163				
CSMD1	64478	broad.mit.edu	37	8	2855679	2855679	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:2855679G>C	ENST00000520002.1	-	55	8789	c.8234C>G	c.(8233-8235)cCt>cGt	p.P2745R	CSMD1_ENST00000537824.1_Missense_Mutation_p.P2744R|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2687R|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2687R|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2686R|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2745R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2745	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCGTGGGCAGGGTTTCCAGG	0.478																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8233-8235)cCt>cGt		CUB and Sushi multiple domains 1							152.0	147.0	148.0					8																	2855679		2009	4186	6195	SO:0001583	missense	64478					integral to membrane		g.chr8:2855679G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8234C>G	8.37:g.2855679G>C	ENSP00000430733:p.Pro2745Arg					CSMD1_ENST00000537824.1_Missense_Mutation_p.P2744R|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2687R|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2687R|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2745R|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2686R	p.P2745R			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	55	8789	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2745			Sushi 19.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8234C>G		.	.	.	.	.	.	.	.	.	.	G	24.6	4.545156	0.86022	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	6.07	6.07	0.98685	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.87422	0.6173	H	0.96916	3.905	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.90269	0.4306	10	0.72032	D	0.01	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	2745;2745;2686	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	R	2687;2745;2606;2744;2686	ENSP00000383047:P2687R;ENSP00000430733:P2745R;ENSP00000441462:P2744R;ENSP00000446243:P2686R	ENSP00000320445:P2606R	P	-	2	0	CSMD1	2843086	1.000000	0.71417	0.974000	0.42286	0.801000	0.45260	9.640000	0.98453	2.884000	0.98904	0.655000	0.94253	CCT		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		46	90	0	0	0	1	0	46	90				
HIVEP3	59269	broad.mit.edu	37	1	42047689	42047689	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:42047689delG	ENST00000372583.1	-	4	3665	c.2780delC	c.(2779-2781)cctfs	p.P927fs	HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P927fs|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P927fs|HIVEP3_ENST00000372584.1_Frame_Shift_Del_p.P927fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	927	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.|Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCGAGACAGAGGCACAGAGGA	0.607																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(2779-2781)ctfs		human immunodeficiency virus type I enhancer binding protein 3							86.0	93.0	91.0					1																	42047689		2203	4300	6503	SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047689delG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2780delC	1.37:g.42047689delG	ENSP00000361664:p.Pro927fs					HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P927fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.P927fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P927fs	p.P927fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	3794	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	927			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Del	DEL	ENST00000372583.1	37	c.2780delC	CCDS463.1																																																																																				0.607	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		59	94						59	94	---	---	---	---
VCAM1	7412	broad.mit.edu	37	1	101196842	101196842	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:101196842delC	ENST00000294728.2	+	6	1394	c.1293delC	c.(1291-1293)tacfs	p.Y431fs	VCAM1_ENST00000370119.4_Frame_Shift_Del_p.Y369fs|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.Y339fs|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	431	Ig-like C2-type 5.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTAGCGTGTACCCCCTTGACC	0.463																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1291-1293)tafs		vascular cell adhesion molecule 1	Carvedilol(DB01136)						70.0	72.0	71.0					1																	101196842		2203	4300	6503	SO:0001589	frameshift_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101196842delC	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1293delC	1.37:g.101196842delC	ENSP00000294728:p.Tyr431fs					VCAM1_ENST00000370119.4_Frame_Shift_Del_p.Y369fs|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Frame_Shift_Del_p.Y339fs	p.Y431fs	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	6	1394	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	431			Ig-like C2-type 5.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Frame_Shift_Del	DEL	ENST00000294728.2	37	c.1293delC	CCDS773.1																																																																																				0.463	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		32	54						32	54	---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115222283	115222283	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:115222283delG	ENST00000520113.2	-	7	928	c.913delC	c.(913-915)cagfs	p.Q305fs	AMPD1_ENST00000369538.3_Frame_Shift_Del_p.Q301fs|AMPD1_ENST00000353928.6_Frame_Shift_Del_p.Q272fs			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	305					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGATGGACCTGGAACTTGGAG	0.413																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(901-903)agfs		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						106.0	114.0	112.0					1																	115222283		2203	4300	6503	SO:0001589	frameshift_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222283delG	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.913delC	1.37:g.115222283delG	ENSP00000430075:p.Gln305fs					AMPD1_ENST00000353928.6_Frame_Shift_Del_p.Q272fs|AMPD1_ENST00000520113.2_Frame_Shift_Del_p.Q305fs	p.Q301fs	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	948	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	272					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Frame_Shift_Del	DEL	ENST00000520113.2	37	c.901delC	CCDS876.2																																																																																				0.413	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			22	89						22	89	---	---	---	---
PPIAL4G	644591	broad.mit.edu	37	1	143767634	143767634	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:143767634delC	ENST00000419275.1	-	1	247	c.215delG	c.(214-216)ggcfs	p.G72fs		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	72	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTCACCGGTGCCATTAGGGTG	0.473																																						ENST00000419275.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						c.(214-216)gcfs		peptidylprolyl isomerase A (cyclophilin A)-like 4G							67.0	63.0	64.0					1																	143767634		1568	3565	5133	SO:0001589	frameshift_variant	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767634delC		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.215delG	1.37:g.143767634delC	ENSP00000393845:p.Gly72fs						p.G72fs	NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN			1	247	-			72			PPIase cyclophilin-type.		A1L431	Frame_Shift_Del	DEL	ENST00000419275.1	37	c.215delG	CCDS41375.1																																																																																				0.473	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		18	280						18	280	---	---	---	---
CD1E	913	broad.mit.edu	37	1	158324217	158324217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:158324217delT	ENST00000368167.3	+	2	348	c.109delT	c.(109-111)ttcfs	p.F37fs	CD1E_ENST00000434258.1_Frame_Shift_Del_p.F35fs|CD1E_ENST00000368160.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368163.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368155.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Frame_Shift_Del_p.F37fs|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368165.3_Frame_Shift_Del_p.F37fs	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	37					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCAGCTGTCCTTCCGCATGCT	0.537																																						ENST00000368160.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(109-111)tcfs		CD1e molecule							126.0	129.0	128.0					1																	158324217		2173	4279	6452	SO:0001589	frameshift_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158324217delT	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.109delT	1.37:g.158324217delT	ENSP00000357149:p.Phe37fs					CD1E_ENST00000368155.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368167.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000434258.1_Frame_Shift_Del_p.F35fs|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368163.3_Frame_Shift_Del_p.F37fs|CD1E_ENST00000368154.1_Intron	p.F37fs	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN			2	109	+	all_hematologic(112;0.0378)		37					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Frame_Shift_Del	DEL	ENST00000368167.3	37	c.109delT	CCDS41417.1																																																																																				0.537	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		30	128						30	128	---	---	---	---
EEF1A1P14	647167	broad.mit.edu	37	1	194158836	194158836	+	lincRNA	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:194158836delC	ENST00000454538.1	+	0	384																											GTGCCTGCCTCCCCAGGATGT	0.507																																						ENST00000454538.1																			0																																																			647167							g.chr1:194158836delC																													1.37:g.194158836delC														0	384	+									RNA	DEL	ENST00000454538.1	37																																																																																						0.507	RP11-563D10.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000086329.1			8	42						8	42	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229770836	229770836	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr1:229770836delG	ENST00000258243.2	+	4	612	c.476delG	c.(475-477)aggfs	p.R159fs		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	159						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCGGCCTGCAGGCAGCCCGAA	0.592																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(475-477)agfs		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							64.0	54.0	57.0					1																	229770836		2203	4300	6503	SO:0001589	frameshift_variant	9816					nucleolus		g.chr1:229770836delG	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.476delG	1.37:g.229770836delG	ENSP00000258243:p.Arg159fs						p.R159fs	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	612	+			159					Q5VYC9	Frame_Shift_Del	DEL	ENST00000258243.2	37	c.476delG	CCDS31052.1																																																																																				0.592	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		17	71						17	71	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452511	43452512	+	Frame_Shift_Ins	INS	-	-	C	rs546559004	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr2:43452511_43452512insC	ENST00000282388.3	-	2	724_725	c.431_432insG	c.(430-432)ggcfs	p.G144fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	144	Poly-Gly.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGGAGCCGCCGCCCCCCTTCTG	0.639																																						ENST00000282388.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15						c.(430-432)gggfs		ZFP36 ring finger protein-like 2																																				SO:0001589	frameshift_variant	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452511_43452512insC	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.432dupG	2.37:g.43452517_43452517dupC	ENSP00000282388:p.Gly144fs					THADA_ENST00000330266.7_Intron	p.G144fs	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN			2	724_725	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	144			Poly-Gly.		Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	c.431_432insG	CCDS1811.1																																																																																				0.639	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		33	15						33	15	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38592839	38592839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:38592839delC	ENST00000333535.4	-	28	5173	c.5024delG	c.(5023-5025)ggcfs	p.G1675fs	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.G1674fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.G1657fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000413689.1_Frame_Shift_Del_p.G1675fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.G1674fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.G1657fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.G1642fs			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1675					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTTGGCCATGCCAAAGATGGA	0.552																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(5023-5025)gcfs		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						173.0	170.0	171.0					3																	38592839		2203	4300	6503	SO:0001589	frameshift_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592839delC	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5024delG	3.37:g.38592839delC	ENSP00000328968:p.Gly1675fs					SCN5A_ENST00000455624.2_Frame_Shift_Del_p.G1642fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.G1621fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.G1674fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.G1674fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.G1657fs|SCN5A_ENST00000333535.4_Frame_Shift_Del_p.G1675fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.G1657fs	p.G1675fs	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5217	-	Medulloblastoma(35;0.163)		1675					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Frame_Shift_Del	DEL	ENST00000333535.4	37	c.5024delG	CCDS46796.1																																																																																				0.552	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		93	64						93	64	---	---	---	---
RAD54L2	23132	broad.mit.edu	37	3	51673492	51673493	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:51673492_51673493delGA	ENST00000409535.2	+	12	2043_2044	c.1918_1919delGA	c.(1918-1920)gagfs	p.E640fs	RAD54L2_ENST00000296477.3_Frame_Shift_Del_p.E334fs	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	640						nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTTGGCCAATGAGCAGGACCTA	0.535																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(1918-1920)gfs		RAD54-like 2 (S. cerevisiae)																																				SO:0001589	frameshift_variant	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51673492_51673493delGA	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1918_1919delGA	3.37:g.51673492_51673493delGA	ENSP00000386520:p.Glu640fs					RAD54L2_ENST00000296477.3_Frame_Shift_Del_p.E334fs	p.E640fs	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	12	2043_2044	+			640					Q8TB57|Q9BV54	Frame_Shift_Del	DEL	ENST00000409535.2	37	c.1918_1919delGA	CCDS33765.2																																																																																				0.535	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		26	27						26	27	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170846634	170846642	+	In_Frame_Del	DEL	AACTTTGCC	AACTTTGCC	-	rs188972192	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:170846634_170846642delAACTTTGCC	ENST00000436636.2	-	16	1978_1986	c.1634_1642delGGCAAAGTT	c.(1633-1644)cggcaaagttcc>ccc	p.545_548RQSS>P	TNIK_ENST00000460047.1_Intron|TNIK_ENST00000470834.1_In_Frame_Del_p.516_519RQSS>P|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000475336.1_Intron|TNIK_ENST00000369326.5_In_Frame_Del_p.516_519RQSS>P|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000284483.8_In_Frame_Del_p.545_548RQSS>P|TNIK_ENST00000357327.5_In_Frame_Del_p.516_519RQSS>P|TNIK_ENST00000341852.6_Intron	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	545	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATGGCAGGGGAACTTTGCCGGTTGAGCCT	0.469																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(1633-1644)ccc>c		TRAF2 and NCK interacting kinase																																				SO:0001651	inframe_deletion	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170846634_170846642delAACTTTGCC	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1634_1642delGGCAAAGTT	3.37:g.170846634_170846642delAACTTTGCC	ENSP00000399511:p.Arg545_Ser548delinsPro					TNIK_ENST00000284483.8_In_Frame_Del_p.RQSS545del|TNIK_ENST00000369326.5_In_Frame_Del_p.RQSS516del|TNIK_ENST00000357327.5_In_Frame_Del_p.RQSS516del|TNIK_ENST00000341852.6_Intron|TNIK_ENST00000460047.1_Intron|TNIK_ENST00000470834.1_In_Frame_Del_p.RQSS516del|TNIK_ENST00000538048.1_Intron|TNIK_ENST00000488470.1_Intron|TNIK_ENST00000475336.1_Intron	p.RQSS545del	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		16	1978_1986	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		545			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	In_Frame_Del	DEL	ENST00000436636.2	37	c.1634_1642delGGCAAAGTT	CCDS46956.1																																																																																				0.469	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		6	8						6	8	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-	rs142849558		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccctgc>ccc	p.C164del		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	164	Poly-Cys.				bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ACACAGGCCCctgctgctgctgc	0.665																																						ENST00000296327.5																			0											c.(475-480)ccc>cc		solute carrier family 51, alpha subunit				166,4098		0,166,1966						5.5	1.0		dbSNP_134	89	364,7890		0,364,3763	no	coding	OSTalpha	NM_152672.5		0,530,5729	A1A1,A1R,RR		4.41,3.8931,4.2339				530,11988				SO:0001651	inframe_deletion	200931							g.chr3:195955100_195955102delCTG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.477_479delCTG	3.37:g.195955109_195955111delCTG	ENSP00000296327:p.Cys164del						p.PC159del	NM_152672.5	NP_689885.4					5	686_688	+								Q6ZMC7	In_Frame_Del	DEL	ENST00000296327.5	37	c.477_479delCTG	CCDS3314.1																																																																																				0.665	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		10	248						10	248	---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158158152	158158152	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr5:158158152delG	ENST00000313708.6	-	11	1332	c.1050delC	c.(1048-1050)cccfs	p.P350fs	EBF1_ENST00000517373.1_Frame_Shift_Del_p.P342fs|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Frame_Shift_Del_p.P319fs	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	350					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATCGATGGTGGGTTCGTTGA	0.438			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1048-1050)ccfs		early B-cell factor 1							62.0	63.0	63.0					5																	158158152		2203	4300	6503	SO:0001589	frameshift_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158158152delG	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1050delC	5.37:g.158158152delG	ENSP00000322898:p.Pro350fs					EBF1_ENST00000380654.4_Frame_Shift_Del_p.P319fs|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Frame_Shift_Del_p.P342fs	p.P350fs	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	1332	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	350					Q8IW11	Frame_Shift_Del	DEL	ENST00000313708.6	37	c.1050delC	CCDS4343.1																																																																																				0.438	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		26	21						26	21	---	---	---	---
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		6	11						6	11	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118606439	118606440	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr6:118606439_118606440insA	ENST00000360388.4	+	7	1141_1142	c.940_941insA	c.(940-942)ctcfs	p.L314fs		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	314					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTCAGTCAACCTCTCCTTGCTC	0.465											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(940-942)ctcfs		solute carrier family 35, member F1																																				SO:0001589	frameshift_variant	222553				transport	integral to membrane		g.chr6:118606439_118606440insA	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	Exception_encountered	6.37:g.118606439_118606440insA	ENSP00000353557:p.Leu314fs		OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1489		p.L314fs	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	7	1141_1142	+			314					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Frame_Shift_Ins	INS	ENST00000360388.4	37	c.940_941insA	CCDS34524.1																																																																																				0.465	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		129	261						129	261	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195|rs374586451|rs200315697		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggctcc>ggcGGCtcc	p.392_393insG	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708																																						ENST00000297477.5																			0				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12						c.(1174-1179)ggccgg>ggGGCccgg		transmembrane protein 184A																																				SO:0001652	inframe_insertion	202915					integral to membrane		g.chr7:1586653_1586654insGCC		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.1174_1176dupGGC	7.37:g.1586657_1586659dupGCC	ENSP00000297477:p.Gly394_Gly395dup						p.392_393GR>GAR	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	9	1492_1493	-		Ovarian(82;0.0253)	392					Q8TBQ6	In_Frame_Ins	INS	ENST00000297477.5	37	c.1176_1177insGGC	CCDS43537.1																																																																																				0.708	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		21	24						21	24	---	---	---	---
ABCB1	5243	broad.mit.edu	37	7	87133630	87133634	+	Frame_Shift_Del	DEL	GATGC	GATGC	-	rs149482536	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:87133630_87133634delGATGC	ENST00000265724.3	-	29	4185_4189	c.3768_3772delGCATC	c.(3766-3774)acgcatcagfs	p.HQ1257fs	ABCB1_ENST00000543898.1_Frame_Shift_Del_p.HQ1193fs|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1257	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	AGCAGCTGCTGATGCGTGCCATGCT	0.488																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3766-3774)acagfs		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)																																			SO:0001589	frameshift_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87133630_87133634delGATGC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3768_3772delGCATC	7.37:g.87133630_87133634delGATGC	ENSP00000265724:p.His1257fs					ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Frame_Shift_Del_p.THQ1192fs	p.THQ1256fs	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			29	4185_4189	-	Esophageal squamous(14;0.00164)		1256			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Frame_Shift_Del	DEL	ENST00000265724.3	37	c.3768_3772delGCATC	CCDS5608.1																																																																																				0.488	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		13	96						13	96	---	---	---	---
NYAP1	222950	broad.mit.edu	37	7	100084787	100084787	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:100084787delC	ENST00000300179.2	+	3	571	c.412delC	c.(412-414)cccfs	p.P139fs	NYAP1_ENST00000454988.1_Frame_Shift_Del_p.P82fs|NYAP1_ENST00000423930.1_Frame_Shift_Del_p.P139fs	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	139	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGCAGAGACGCCCCCCAGCAA	0.667																																						ENST00000423930.1																			0											c.(412-414)ccfs		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1							17.0	22.0	20.0					7																	100084787		2189	4260	6449	SO:0001589	frameshift_variant	222950							g.chr7:100084787delC	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.412delC	7.37:g.100084787delC	ENSP00000300179:p.Pro139fs					NYAP1_ENST00000300179.2_Frame_Shift_Del_p.P139fs|NYAP1_ENST00000454988.1_Frame_Shift_Del_p.P82fs	p.P139fs			Q6ZVC0	CG051_HUMAN			3	571	+			139					Q6U9Y3|Q8N1V0	Frame_Shift_Del	DEL	ENST00000300179.2	37	c.412delC	CCDS5696.1																																																																																				0.667	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		17	20						17	20	---	---	---	---
ADCK2	90956	broad.mit.edu	37	7	140373568	140373588	+	In_Frame_Del	DEL	CAAACTGGGCCAGTGGGCCAG	CAAACTGGGCCAGTGGGCCAG	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:140373568_140373588delCAAACTGGGCCAGTGGGCCAG	ENST00000072869.4	+	1	616_636	c.438_458delCAAACTGGGCCAGTGGGCCAG	c.(436-459)atcaaactgggccagtgggccagc>atc	p.KLGQWAS147del	ADCK2_ENST00000476491.1_In_Frame_Del_p.KLGQWAS147del	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	147						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CAACCTACATCAAACTGGGCCAGTGGGCCAGCACCCGGCGC	0.606																																						ENST00000072869.4																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15						c.(436-459)atc>at		aarF domain containing kinase 2																																				SO:0001651	inframe_deletion	90956					integral to membrane	ATP binding|protein serine/threonine kinase activity	g.chr7:140373568_140373588delCAAACTGGGCCAGTGGGCCAG	AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.438_458delCAAACTGGGCCAGTGGGCCAG	7.37:g.140373568_140373588delCAAACTGGGCCAGTGGGCCAG	ENSP00000072869:p.Lys147_Ser153del					ADCK2_ENST00000476491.1_In_Frame_Del_p.IKLGQWAS146del	p.IKLGQWAS146del	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN			1	616_636	+	Melanoma(164;0.00956)		146					Q96CN6|Q9Y6T5	In_Frame_Del	DEL	ENST00000072869.4	37	c.438_458delCAAACTGGGCCAGTGGGCCAG	CCDS5861.1																																																																																				0.606	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348734.1	NM_052853		24	115						24	115	---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141619579	141619579	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr7:141619579delC	ENST00000548136.1	+	1	963	c.904delC	c.(904-906)cggfs	p.R302fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AGAGGCCCTTCGGGATGGGGT	0.423																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(904-906)ggfs		olfactory receptor, family 9, subfamily A, member 4							94.0	96.0	96.0					7																	141619579		2071	4246	6317	SO:0001589	frameshift_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619579delC		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.904delC	7.37:g.141619579delC	ENSP00000448789:p.Arg302fs					MGAM_ENST00000497554.1_Intron	p.R302fs	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	963	+	Melanoma(164;0.0171)		302					B9EGV6|Q6IFI4	Frame_Shift_Del	DEL	ENST00000548136.1	37	c.904delC	CCDS43661.1																																																																																				0.423	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		39	55						39	55	---	---	---	---
LOC101929066	101929066	broad.mit.edu	37	8	17947397	17947398	+	RNA	INS	-	-	T	rs146025812|rs115192608|rs34486852	byFrequency	TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:17947397_17947398insT	ENST00000505114.2	+	0	902				CTD-2547L16.1_ENST00000521775.1_RNA|CTD-2547L16.1_ENST00000517747.1_RNA|CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000499554.2_RNA																							TAATGCTAttcttttttttttt	0.376													|||unknown(LONG_INSERTION)	2520	0.503195	0.5847	0.4986	5008	,	,		16529	0.3343		0.5517	False		,,,				2504	0.5204					ENST00000499554.2																			0																																																			101929066							g.chr8:17947397_17947398insT																													8.37:g.17947408_17947408dupT						CTD-2547L16.1_ENST00000521775.1_RNA								0	483	+									RNA	INS	ENST00000505114.2	37																																																																																						0.376	CTD-2547L16.1-003	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000375014.1			2	4						2	4	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35631840	35631841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:35631840_35631841insT	ENST00000404895.2	+	16	2830_2831	c.2502_2503insT	c.(2503-2505)ttcfs	p.F835fs	UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.F840fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.F411fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.F768fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.F830fs|UNC5D_ENST00000287272.2_Frame_Shift_Ins_p.F766fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	835					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCATCACTTTCTTCGCACAAGA	0.426																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(2293-2298)tttcgcfs		unc-5 homolog D (C. elegans)																																				SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35631840_35631841insT	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2504dupT	8.37:g.35631842_35631842dupT	ENSP00000385143:p.Phe835fs					UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.R840fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.R411fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.R830fs|UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.R768fs|UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.R835fs	p.R766fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	15	2315_2316	+			835					Q8WYP7	Frame_Shift_Ins	INS	ENST00000404895.2	37	c.2295_2296insT	CCDS6093.2																																																																																				0.426	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			16	89						16	89	---	---	---	---
TG	7038	broad.mit.edu	37	8	133899343	133899343	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr8:133899343delG	ENST00000220616.4	+	9	1766	c.1726delG	c.(1726-1728)gaafs	p.E576fs	TG_ENST00000377869.1_Frame_Shift_Del_p.E576fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	576					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGAGCTTCCAGAATTCCTTCT	0.448																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(1726-1728)aafs		thyroglobulin							105.0	101.0	103.0					8																	133899343		2203	4300	6503	SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899343delG	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1726delG	8.37:g.133899343delG	ENSP00000220616:p.Glu576fs					TG_ENST00000377869.1_Frame_Shift_Del_p.E576fs	p.E576fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1766	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	576					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.1726delG	CCDS34944.1																																																																																				0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	104						20	104	---	---	---	---
WNK2	65268	broad.mit.edu	37	9	96055090	96055090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr9:96055090delC	ENST00000297954.4	+	23	5454	c.5454delC	c.(5452-5454)agcfs	p.S1818fs	WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Frame_Shift_Del_p.S1393fs|WNK2_ENST00000356055.3_Frame_Shift_Del_p.S145fs|WNK2_ENST00000395477.2_Frame_Shift_Del_p.S1781fs|WNK2_ENST00000349097.3_Frame_Shift_Del_p.S1430fs	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1818					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCCCTCCAGCCCCGACGTGA	0.706																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(5452-5454)agfs		WNK lysine deficient protein kinase 2							11.0	12.0	11.0					9																	96055090		2177	4243	6420	SO:0001589	frameshift_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96055090delC	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5454delC	9.37:g.96055090delC	ENSP00000297954:p.Ser1818fs					WNK2_ENST00000395477.2_Frame_Shift_Del_p.S1781fs|WNK2_ENST00000427277.2_Frame_Shift_Del_p.S1393fs|WNK2_ENST00000356055.3_Frame_Shift_Del_p.S145fs|WNK2_ENST00000349097.3_Frame_Shift_Del_p.S1430fs|WNK2_ENST00000395475.2_3'UTR	p.S1818fs			Q9Y3S1	WNK2_HUMAN			23	5454	+			1818					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Frame_Shift_Del	DEL	ENST00000297954.4	37	c.5454delC																																																																																					0.706	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		2	4						2	4	---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18690967	18690967	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:18690967delG	ENST00000324631.7	+	3	388	c.328delG	c.(328-330)gcafs	p.A110fs	CACNB2_ENST00000377331.2_Frame_Shift_Del_p.A82fs|CACNB2_ENST00000352115.6_Frame_Shift_Del_p.A110fs|CACNB2_ENST00000282343.8_Frame_Shift_Del_p.A82fs|CACNB2_ENST00000377329.4_Frame_Shift_Del_p.A56fs|CACNB2_ENST00000377315.4_Frame_Shift_Del_p.A62fs|CACNB2_ENST00000377319.3_Frame_Shift_Del_p.A55fs|CACNB2_ENST00000396576.2_Frame_Shift_Del_p.A55fs|CACNB2_ENST00000377328.1_Frame_Shift_Del_p.A110fs	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	110					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTGGAAAAAGCAAAGGTAAA	0.537																																						ENST00000396576.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31						c.(163-165)cafs		calcium channel, voltage-dependent, beta 2 subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						68.0	58.0	61.0					10																	18690967		2203	4300	6503	SO:0001589	frameshift_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18690967delG	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.328delG	10.37:g.18690967delG	ENSP00000320025:p.Ala110fs					CACNB2_ENST00000377319.3_Frame_Shift_Del_p.A55fs|CACNB2_ENST00000377328.1_Frame_Shift_Del_p.A110fs|CACNB2_ENST00000377329.4_Frame_Shift_Del_p.A56fs|CACNB2_ENST00000377331.2_Frame_Shift_Del_p.A82fs|CACNB2_ENST00000324631.7_Frame_Shift_Del_p.A110fs|CACNB2_ENST00000352115.6_Frame_Shift_Del_p.A110fs|CACNB2_ENST00000282343.8_Frame_Shift_Del_p.A82fs|CACNB2_ENST00000377315.4_Frame_Shift_Del_p.A62fs	p.A55fs	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN			2	664	+			110					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Frame_Shift_Del	DEL	ENST00000324631.7	37	c.163delG	CCDS7125.1																																																																																				0.537	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		16	63						16	63	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88761384	88761384	+	RNA	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr10:88761384delC	ENST00000444431.1	+	0	2514				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CACTTCCCTTCCCCTTCAGGT	0.388																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88761384delC			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88761384delC						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	2514	+								B9EIP7|D3DWE4	RNA	DEL	ENST00000444431.1	37																																																																																						0.388	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		42	39						42	39	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662745	6662746	+	In_Frame_Ins	INS	-	-	CAG	rs376287018|rs372916982|rs370785084|rs56194704		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:6662745_6662746insCAG	ENST00000299441.3	-	2	510_511	c.99_100insCTG	c.(97-102)ctgggg>ctgCTGggg	p.33_34insL		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCAGCCCCcagcagcagca	0.639																																						ENST00000299441.3																			1	Insertion - In frame(1)	p.L33_G34insL(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(97-102)ctgggc>ctCTGgggc		dachsous cadherin-related 1																																				SO:0001652	inframe_insertion	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662745_6662746insCAG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99dupCTG	11.37:g.6662752_6662754dupCAG	ENSP00000299441:p.Leu33_Leu33dup						p.33_34LG>LWG	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	510_511	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	33					O15098	In_Frame_Ins	INS	ENST00000299441.3	37	c.99_100insCTG	CCDS7771.1																																																																																				0.639	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		3	4						3	4	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7981203	7981204	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:7981203_7981204insT	ENST00000328600.2	-	2	2116_2117	c.1955_1956insA	c.(1954-1956)aatfs	p.N652fs		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	652					defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		atatgtaagtatttTTTGGTGT	0.376																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1954-1956)aacfs		NLR family, pyrin domain containing 10																																				SO:0001589	frameshift_variant	338322						ATP binding	g.chr11:7981203_7981204insT	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1956dupA	11.37:g.7981209_7981209dupT	ENSP00000327763:p.Asn652fs						p.N652fs	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	2116_2117	-			652					Q2M3C4|Q6JGT0	Frame_Shift_Ins	INS	ENST00000328600.2	37	c.1955_1956insA	CCDS7784.1																																																																																				0.376	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		19	25						19	25	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62292621	62292622	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr11:62292621_62292622insG	ENST00000378024.4	-	5	9541_9542	c.9267_9268insC	c.(9265-9270)cccaagfs	p.K3090fs	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3090					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)				ATGGAGATCTTGGGGGCTTTGA	0.46																																						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.(9265-9270)ccagatfs		AHNAK nucleoprotein																																				SO:0001589	frameshift_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62292621_62292622insG	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.9268dupC	11.37:g.62292626_62292626dupG	ENSP00000367263:p.Lys3090fs					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D3090fs	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9541_9542	-		Melanoma(852;0.155)	3090					A1A586	Frame_Shift_Ins	INS	ENST00000378024.4	37	c.9267_9268insC	CCDS31584.1																																																																																				0.460	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		157	324						157	324	---	---	---	---
HS3ST4	9951	broad.mit.edu	37	16	26147463	26147464	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr16:26147463_26147464insA	ENST00000331351.5	+	2	1657_1658	c.1265_1266insA	c.(1264-1269)ccagatfs	p.D423fs	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	423					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CGCATTGACCCAGATGTCATCC	0.475																																						ENST00000331351.5																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(1264-1266)cgafs		heparan sulfate (glucosamine) 3-O-sulfotransferase 4																																				SO:0001589	frameshift_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147463_26147464insA	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1266dupA	16.37:g.26147464_26147464dupA	ENSP00000330606:p.Asp423fs					HS3ST4_ENST00000475436.1_3'UTR	p.R422fs	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	2	1657_1658	+			422					Q5QI42|Q8NDC2	Frame_Shift_Ins	INS	ENST00000331351.5	37	c.1265_1266insA	CCDS53995.1																																																																																				0.475	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040		14	21						14	21	---	---	---	---
EEF2	1938	broad.mit.edu	37	19	3981953	3981954	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:3981953_3981954insG	ENST00000309311.6	-	6	976_977	c.888_889insC	c.(886-891)cccatcfs	p.I297fs	SNORD37_ENST00000384048.1_RNA|EEF2_ENST00000600720.1_5'Flank	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	297	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTGAAGATGGGGTCCAGGA	0.653																																					Colon(165;1804 1908 4071 6587 18799)	ENST00000309311.6																			0				endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(886-891)cctcttfs		eukaryotic translation elongation factor 2																																				SO:0001589	frameshift_variant	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3981953_3981954insG	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.889dupC	19.37:g.3981957_3981957dupG	ENSP00000307940:p.Ile297fs						p.L297fs	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	6	976_977	-		Hepatocellular(1079;0.137)	297					B2RMP5|D6W618|Q58J86	Frame_Shift_Ins	INS	ENST00000309311.6	37	c.888_889insC	CCDS12117.1																																																																																				0.653	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961		58	165						58	165	---	---	---	---
MCOLN1	57192	broad.mit.edu	37	19	7589876	7589876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:7589876delG	ENST00000264079.6	+	2	186	c.61delG	c.(61-63)gggfs	p.G21fs		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	21					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCCAACCCCGGGTATGGGAC	0.617																																						ENST00000264079.6																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(61-63)ggfs		mucolipin 1							17.0	19.0	19.0					19																	7589876		2202	4299	6501	SO:0001589	frameshift_variant	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7589876delG	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.61delG	19.37:g.7589876delG	ENSP00000264079:p.Gly21fs						p.G21fs	NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN			2	186	+			21					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Frame_Shift_Del	DEL	ENST00000264079.6	37	c.61delG	CCDS12180.1																																																																																				0.617	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	NM_020533		19	48						19	48	---	---	---	---
ADCK4	79934	broad.mit.edu	37	19	41220505	41220505	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr19:41220505delC	ENST00000324464.3	-	2	334	c.33delG	c.(31-33)gggfs	p.G11fs	ITPKC_ENST00000263370.2_5'Flank|ADCK4_ENST00000243583.6_Frame_Shift_Del_p.G11fs|ADCK4_ENST00000450541.1_Frame_Shift_Del_p.G11fs	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	11						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTCCACCGGTCCCCCGAAGTA	0.657																																						ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(31-33)ggfs		aarF domain containing kinase 4							36.0	42.0	40.0					19																	41220505		2203	4300	6503	SO:0001589	frameshift_variant	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41220505delC	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.33delG	19.37:g.41220505delC	ENSP00000315118:p.Gly11fs					ADCK4_ENST00000243583.6_Frame_Shift_Del_p.G11fs|ADCK4_ENST00000450541.1_Frame_Shift_Del_p.G11fs	p.G11fs	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		2	334	-			11					Q8TAJ1|Q9HA52	Frame_Shift_Del	DEL	ENST00000324464.3	37	c.33delG	CCDS12562.1																																																																																				0.657	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		49	61						49	61	---	---	---	---
TOP3B	8940	broad.mit.edu	37	22	22317262	22317262	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chr22:22317262delC	ENST00000398793.2	-	12	1642	c.1208delG	c.(1207-1209)ggtfs	p.G403fs	TOP3B_ENST00000357179.5_Frame_Shift_Del_p.G403fs|TOP3B_ENST00000413067.2_Frame_Shift_Del_p.G132fs	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	403					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CCACGCGTCACCCCCTGCAAC	0.607																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(1207-1209)gtfs		topoisomerase (DNA) III beta							49.0	50.0	49.0					22																	22317262		2203	4300	6503	SO:0001589	frameshift_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22317262delC	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.1208delG	22.37:g.22317262delC	ENSP00000381773:p.Gly403fs					TOP3B_ENST00000413067.2_Frame_Shift_Del_p.G132fs|TOP3B_ENST00000357179.5_Frame_Shift_Del_p.G403fs	p.G403fs	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	12	1642	-	Colorectal(54;0.105)		403					A0M8Q3|Q9BUP5	Frame_Shift_Del	DEL	ENST00000398793.2	37	c.1208delG	CCDS13797.1																																																																																				0.607	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		17	34						17	34	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350814	50350814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:50350814delC	ENST00000289292.7	-	6	3611	c.3328delG	c.(3328-3330)gagfs	p.E1110fs	SHROOM4_ENST00000460112.3_Frame_Shift_Del_p.E994fs|SHROOM4_ENST00000376020.2_Frame_Shift_Del_p.E1110fs			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1110					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTGTACTTCTCCCAGTTGGGA	0.562																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3328-3330)agfs		shroom family member 4							34.0	30.0	32.0					X																	50350814		2203	4299	6502	SO:0001589	frameshift_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350814delC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3328delG	X.37:g.50350814delC	ENSP00000289292:p.Glu1110fs					SHROOM4_ENST00000289292.7_Frame_Shift_Del_p.E1110fs|SHROOM4_ENST00000460112.3_Frame_Shift_Del_p.E994fs	p.E1110fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3353	-	Ovarian(276;0.236)		1110					A7E2X9|D6RFW0|Q96LA0	Frame_Shift_Del	DEL	ENST00000289292.7	37	c.3328delG	CCDS35277.1																																																																																				0.562	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		26	10						26	10	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			10	10						10	10	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65486287	65486287	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:65486287delC	ENST00000343002.2	+	20	3914	c.3250delC	c.(3250-3252)cccfs	p.P1085fs	HEPH_ENST00000336279.5_Frame_Shift_Del_p.P818fs|HEPH_ENST00000441993.2_Frame_Shift_Del_p.P1087fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.P896fs|HEPH_ENST00000519389.1_Frame_Shift_Del_p.P1139fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.P1088fs			Q9BQS7	HEPH_HUMAN	hephaestin	1085	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTCAGCAGTGCCCCCCAGAGA	0.438																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3412-3414)ccfs		hephaestin							134.0	101.0	112.0					X																	65486287		2203	4300	6503	SO:0001589	frameshift_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486287delC	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3250delC	X.37:g.65486287delC	ENSP00000343939:p.Pro1085fs					HEPH_ENST00000441993.2_Frame_Shift_Del_p.P1087fs|HEPH_ENST00000343002.2_Frame_Shift_Del_p.P1085fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.P818fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.P896fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.P1088fs	p.P1139fs			Q9BQS7	HEPH_HUMAN			21	3591	+			1085					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Frame_Shift_Del	DEL	ENST00000343002.2	37	c.3412delC																																																																																					0.438	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		25	10						25	10	---	---	---	---
MAP2K4P1	139201	broad.mit.edu	37	X	72744763	72744763	+	RNA	DEL	T	T	-			TCGA-CN-A63U-01A-11D-A30E-08	TCGA-CN-A63U-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06f0ce6c-d91c-40ef-afc5-43a86e4a39d8	7cbcd18d-f2f6-4114-a1f7-5c70911a3c8e	g.chrX:72744763delT	ENST00000602584.1	-	0	1886					NR_029423.1				mitogen-activated protein kinase kinase 4 pseudogene 1																		CTCTCAGCCCTTTTTTTTAGT	0.413																																						ENST00000602584.1																			0																																																			139201							g.chrX:72744763delT			Xq13.2	2013-08-05			ENSG00000269904	ENSG00000269904			43837	pseudogene	pseudogene							Standard	NR_029423		Approved		uc022bza.1		OTTHUMG00000021833		X.37:g.72744763delT								NR_029423.1						0	1886	-									RNA	DEL	ENST00000602584.1	37																																																																																						0.413	MAP2K4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467477.1			4	9						4	9	---	---	---	---
