#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
ABCA13	154664	broad.mit.edu	37	7	48315902	48315902	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr7:48315902C>G	ENST00000435803.1	+	17	6663	c.6639C>G	c.(6637-6639)atC>atG	p.I2213M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2213					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTAATTTGATCAATAACTTAG	0.338																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(6637-6639)atC>atG		ATP-binding cassette, sub-family A (ABC1), member 13							23.0	22.0	22.0					7																	48315902		1806	4068	5874	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315902C>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.6639C>G	7.37:g.48315902C>G	ENSP00000411096:p.Ile2213Met						p.I2213M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	6663	+			2213					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.6639C>G	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	3.401	-0.122219	0.06795	.	.	ENSG00000179869	ENST00000435803	T	0.23147	1.92	5.03	3.19	0.36642	.	0.834989	0.10219	N	0.701164	T	0.21186	0.0510	L	0.34521	1.04	0.09310	N	1	B	0.29085	0.232	B	0.35607	0.206	T	0.36335	-0.9752	9	.	.	.	.	6.455	0.21924	0.0:0.6735:0.0:0.3265	.	2213	Q86UQ4	ABCAD_HUMAN	M	2213	ENSP00000411096:I2213M	.	I	+	3	3	ABCA13	48286448	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	0.958000	0.29227	0.505000	0.28104	0.491000	0.48974	ATC		0.338	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	19	0	0	0	1	0	4	19				
ZMAT2	153527	broad.mit.edu	37	5	140084063	140084063	+	Missense_Mutation	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr5:140084063G>C	ENST00000274712.3	+	5	490	c.363G>C	c.(361-363)caG>caC	p.Q121H		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	121						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGGATCAGGTGAAGAAAC	0.453																																						ENST00000274712.3																			0				breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8						c.(361-363)caG>caC		zinc finger, matrin-type 2							190.0	181.0	184.0					5																	140084063		2203	4300	6503	SO:0001583	missense	153527					nucleus	DNA binding|zinc ion binding	g.chr5:140084063G>C	AK055683	CCDS4239.1	5q31	2012-10-05	2010-09-15		ENSG00000146007	ENSG00000146007		"""Zinc fingers, matrin-type"""	26433	protein-coding gene	gene with protein product						12477932	Standard	NM_144723		Approved	FLJ31121, hSNU23, Snu23	uc003lgy.1	Q96NC0	OTTHUMG00000129503	ENST00000274712.3:c.363G>C	5.37:g.140084063G>C	ENSP00000274712:p.Gln121His						p.Q121H	NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	490	+			121						Missense_Mutation	SNP	ENST00000274712.3	37	c.363G>C	CCDS4239.1	.	.	.	.	.	.	.	.	.	.	g	20.9	4.067774	0.76301	.	.	ENSG00000146007	ENST00000274712	.	.	.	6.16	3.07	0.35406	.	0.101814	0.64402	N	0.000002	T	0.70937	0.3281	M	0.91406	3.205	0.58432	D	0.999998	D	0.60575	0.988	P	0.54924	0.764	T	0.70357	-0.4894	9	0.72032	D	0.01	-19.4215	5.5721	0.17202	0.2531:0.138:0.609:0.0	.	121	Q96NC0	ZMAT2_HUMAN	H	121	.	ENSP00000274712:Q121H	Q	+	3	2	ZMAT2	140064247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.423000	0.34837	0.317000	0.23160	0.650000	0.86243	CAG		0.453	ZMAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468143.1	NM_144723		14	92	0	0	0	1	0	14	92				
ATXN10	25814	broad.mit.edu	37	22	46238887	46238887	+	Silent	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr22:46238887G>C	ENST00000252934.5	+	11	1519	c.1254G>C	c.(1252-1254)gtG>gtC	p.V418V	ATXN10_ENST00000381061.4_Silent_p.V354V|ATXN10_ENST00000402380.3_Silent_p.V69V	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	418					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CCCAGTGGGTGATATATGCCA	0.438																																						ENST00000252934.5																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10						c.(1252-1254)gtG>gtC		ataxin 10							88.0	86.0	86.0					22																	46238887		2203	4300	6503	SO:0001819	synonymous_variant	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46238887G>C	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.1254G>C	22.37:g.46238887G>C						ATXN10_ENST00000381061.4_Missense_Mutation_p.354_354insV|ATXN10_ENST00000402380.3_Missense_Mutation_p.69_69insV	p.418_418insV	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	11	1519	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	0					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	c.1254G>C	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	G	7.848	0.723412	0.15439	.	.	ENSG00000130638	ENST00000396011	.	.	.	5.8	2.25	0.28309	.	.	.	.	.	T	0.56455	0.1986	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57493	-0.7802	5	0.52906	T	0.07	-3.5539	4.5145	0.11928	0.165:0.4501:0.3849:0.0	.	.	.	.	H	422	.	ENSP00000379332:D422H	D	+	1	0	ATXN10	44617551	0.999000	0.42202	1.000000	0.80357	0.813000	0.45954	0.493000	0.22451	1.444000	0.47605	0.650000	0.86243	GAT		0.438	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		9	54	0	0	0	1	0	9	54				
APPL2	55198	broad.mit.edu	37	12	105583914	105583914	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr12:105583914C>G	ENST00000258530.3	-	15	1486	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	APPL2_ENST00000539978.2_Missense_Mutation_p.E378Q|APPL2_ENST00000551662.1_Missense_Mutation_p.E427Q	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTTTCCATCTCTGAATTTTTC	0.413																																						ENST00000258530.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(1261-1263)Gag>Cag		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2							107.0	99.0	102.0					12																	105583914		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105583914C>G	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1261G>C	12.37:g.105583914C>G	ENSP00000258530:p.Glu421Gln					APPL2_ENST00000539978.2_Missense_Mutation_p.E378Q|APPL2_ENST00000551662.1_Missense_Mutation_p.E427Q	p.E421Q	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN			15	1486	-			421			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.1261G>C	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345249	0.41498	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.22945	2.74;1.93;2.52	5.67	5.67	0.87782	.	0.967133	0.08314	U	0.964917	T	0.26955	0.0660	L	0.36672	1.1	0.27436	N	0.953856	B;B;B	0.27416	0.178;0.09;0.026	B;B;B	0.27887	0.084;0.063;0.028	T	0.33163	-0.9879	10	0.14252	T	0.57	-21.1624	19.7785	0.96405	0.0:1.0:0.0:0.0	.	427;378;421	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	Q	421;378;427	ENSP00000258530:E421Q;ENSP00000444472:E378Q;ENSP00000446917:E427Q	ENSP00000258530:E421Q	E	-	1	0	APPL2	104108044	0.986000	0.35501	0.536000	0.28039	0.973000	0.67179	4.623000	0.61247	2.667000	0.90743	0.563000	0.77884	GAG		0.413	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		17	38	0	0	0	1	0	17	38				
LRSAM1	90678	broad.mit.edu	37	9	130241706	130241706	+	Missense_Mutation	SNP	A	A	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr9:130241706A>C	ENST00000323301.4	+	12	1429	c.825A>C	c.(823-825)gaA>gaC	p.E275D	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E275D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E275D|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E275D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	275					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GGCGCCTGGAACTGGGGCAGC	0.587																																						ENST00000323301.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						c.(823-825)gaA>gaC		leucine rich repeat and sterile alpha motif containing 1							60.0	58.0	58.0					9																	130241706		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130241706A>C	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.825A>C	9.37:g.130241706A>C	ENSP00000322937:p.Glu275Asp					LRSAM1_ENST00000300417.6_Missense_Mutation_p.E275D|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E275D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E275D	p.E275D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN			12	1429	+			275					Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.825A>C	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.973337	0.34848	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.78126	1.31;-1.15;1.31;1.31	5.61	-4.35	0.03656	Insulin-like (1);	0.343290	0.35466	N	0.003197	T	0.45935	0.1367	N	0.10874	0.06	0.25817	N	0.984328	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.23261	-1.0193	10	0.26408	T	0.33	-5.3179	0.7737	0.01028	0.3199:0.1763:0.3036:0.2003	.	275;275	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	D	275	ENSP00000300417:E275D;ENSP00000362421:E275D;ENSP00000322937:E275D;ENSP00000362419:E275D	ENSP00000300417:E275D	E	+	3	2	LRSAM1	129281527	0.898000	0.30612	0.822000	0.32727	0.989000	0.77384	-0.186000	0.09670	-0.623000	0.05618	0.383000	0.25322	GAA		0.587	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		13	58	0	0	0	1	0	13	58				
ZDHHC20	253832	broad.mit.edu	37	13	22033206	22033206	+	Silent	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr13:22033206C>T	ENST00000400590.3	-	1	303	c.105G>A	c.(103-105)gtG>gtA	p.V35V	ZDHHC20_ENST00000542645.1_5'UTR|ZDHHC20_ENST00000382466.3_Silent_p.V35V|ZDHHC20_ENST00000422251.1_Silent_p.V35V|ZDHHC20_ENST00000320220.9_Silent_p.V35V|ZDHHC20_ENST00000415724.1_Silent_p.V35V			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	35					protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		CGCAGAGCTCCACCACGTACG	0.711																																						ENST00000400590.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(103-105)gtG>gtA		zinc finger, DHHC-type containing 20							26.0	30.0	29.0					13																	22033206		2067	4205	6272	SO:0001819	synonymous_variant	253832					integral to membrane	acyltransferase activity|zinc ion binding	g.chr13:22033206C>T	AK090979	CCDS45017.1, CCDS73551.1	13q12.11	2008-10-21			ENSG00000180776	ENSG00000180776		"""Zinc fingers, DHHC-type"""	20749	protein-coding gene	gene with protein product							Standard	NM_153251		Approved	FLJ25952	uc001uoa.2	Q5W0Z9	OTTHUMG00000017410	ENST00000400590.3:c.105G>A	13.37:g.22033206C>T						ZDHHC20_ENST00000542645.1_5'UTR|ZDHHC20_ENST00000422251.1_Silent_p.V35V|ZDHHC20_ENST00000415724.1_Silent_p.V35V|ZDHHC20_ENST00000382466.3_Silent_p.V35V|ZDHHC20_ENST00000320220.9_Silent_p.V35V	p.V35V			Q5W0Z9	ZDH20_HUMAN		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)	1	303	-		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	35					A8MTV9|C9JG20|I6L9D4|Q2TB82|Q6NVU8	Silent	SNP	ENST00000400590.3	37	c.105G>A																																																																																					0.711	ZDHHC20-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000045994.1	NM_153251		10	56	0	0	0	1	0	10	56				
TNN	63923	broad.mit.edu	37	1	175086244	175086244	+	Silent	SNP	C	C	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:175086244C>A	ENST00000239462.4	+	10	2402	c.2289C>A	c.(2287-2289)gtC>gtA	p.V763V		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	763	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTAGCACTGTCCTGACGGGCC	0.642																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2287-2289)gtC>gtA		tenascin N							95.0	87.0	89.0					1																	175086244		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086244C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2289C>A	1.37:g.175086244C>A							p.V763V	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2402	+		Breast(1374;0.000962)	763			Fibronectin type-III 6.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2289C>A	CCDS30943.1																																																																																				0.642	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		25	94	1	0	2.39556e-15	1	2.78143e-15	25	94				
ZNF425	155054	broad.mit.edu	37	7	148809257	148809257	+	Missense_Mutation	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr7:148809257C>T	ENST00000378061.2	-	3	408	c.276G>A	c.(274-276)atG>atA	p.M92I	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	92					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CAGTATTCTTCATGTTCAACT	0.368																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(274-276)atG>atA		zinc finger protein 425							227.0	202.0	210.0					7																	148809257		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148809257C>T	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.276G>A	7.37:g.148809257C>T	ENSP00000367300:p.Met92Ile					ZNF425_ENST00000484196.1_5'UTR	p.M92I	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	408	-	Melanoma(164;0.15)		92					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.276G>A	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	4.123	0.021140	0.08006	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.06933	3.24;5.04	3.05	2.08	0.27032	.	.	.	.	.	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41592	-0.9500	9	0.22109	T	0.4	.	7.9158	0.29816	0.0:0.7459:0.2541:0.0	.	92	Q6IV72	ZN425_HUMAN	I	92;114	ENSP00000367300:M92I;ENSP00000420379:M114I	ENSP00000367300:M92I	M	-	3	0	ZNF425	148440190	0.000000	0.05858	0.017000	0.16124	0.032000	0.12392	-0.015000	0.12634	1.544000	0.49359	0.650000	0.86243	ATG		0.368	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		17	111	0	0	0	1	0	17	111				
SLC8B1	80024	broad.mit.edu	37	12	113754397	113754397	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr12:113754397G>A	ENST00000552014.1	-	11	1442	c.927C>T	c.(925-927)ctC>ctT	p.L309L	SLC8B1_ENST00000202831.3_Silent_p.L309L|SLC8B1_ENST00000546737.1_Silent_p.L253L|SLC8B1_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	309					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CCAGGGGATTGAGGGCCCGGA	0.587																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(925-927)ctC>ctT									165.0	162.0	163.0					12																	113754397		2203	4300	6503	SO:0001819	synonymous_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113754397G>A	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.927C>T	12.37:g.113754397G>A						SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.L309L|SLC24A6_ENST00000546737.1_Silent_p.L253L	p.L309L			Q6J4K2	NCKX6_HUMAN			11	1442	-			309					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.927C>T	CCDS31909.1																																																																																				0.587	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		44	188	0	0	0	1	0	44	188				
FOLR4	390243	broad.mit.edu	37	11	94039704	94039704	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:94039704G>A	ENST00000440961.2	+	2	208	c.164G>A	c.(163-165)tGc>tAc	p.C55Y		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	55					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GACAATGCCTGCTGCACCCTC	0.552																																						ENST00000440961.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(163-165)tGc>tAc		folate receptor 4, delta (putative)							205.0	202.0	203.0					11																	94039704		2068	4203	6271	SO:0001583	missense	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94039704G>A			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.164G>A	11.37:g.94039704G>A	ENSP00000416935:p.Cys55Tyr						p.C55Y	NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN			2	208	+			55						Missense_Mutation	SNP	ENST00000440961.2	37	c.164G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.295635|4.295635	0.81025|0.81025	.|.	.|.	ENSG00000183560|ENSG00000183560	ENST00000328458|ENST00000440961	.|D	.|0.95342	.|-3.68	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97504|0.97504	0.9183|0.9183	M|M	0.89163|0.89163	3.01|3.01	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.98070|0.98070	1.0398|1.0398	5|10	.|0.87932	.|D	.|0	-6.1828|-6.1828	15.6255|15.6255	0.76851|0.76851	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|55	.|A6ND01-2	.|.	T|Y	49|55	.|ENSP00000416935:C55Y	.|ENSP00000416935:C55Y	A|C	+|+	1|2	0|0	FOLR4|FOLR4	93679352|93679352	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.854000|0.854000	0.48673|0.48673	9.234000|9.234000	0.95347|0.95347	2.635000|2.635000	0.89317|0.89317	0.561000|0.561000	0.74099|0.74099	GCT|TGC		0.552	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		7	173	0	0	0	1	0	7	173				
MRPL4	51073	broad.mit.edu	37	19	10368996	10368996	+	Silent	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:10368996C>T	ENST00000253099.6	+	6	831	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	MRPL4_ENST00000588502.1_Silent_p.L181L|MRPL4_ENST00000307422.5_Silent_p.L182L|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000393733.2_Silent_p.L182L|MRPL4_ENST00000590669.1_Silent_p.L182L|CTD-2369P2.5_ENST00000592893.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	182					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		GACCGTCAAGCTGGCCCAGGT	0.627																																						ENST00000393733.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(544-546)Ctg>Ttg		mitochondrial ribosomal protein L4							49.0	51.0	50.0					19																	10368996		2203	4300	6503	SO:0001819	synonymous_variant	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10368996C>T	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.544C>T	19.37:g.10368996C>T						MRPL4_ENST00000307422.5_Silent_p.L182L|MRPL4_ENST00000253099.6_Silent_p.L182L|MRPL4_ENST00000590669.1_Silent_p.L182L|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000588502.1_Silent_p.L181L	p.L182L			Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	6	571	+		Renal(1328;0.0112)	182					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP	ENST00000253099.6	37	c.544C>T	CCDS12230.1																																																																																				0.627	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			10	55	0	0	0	1	0	10	55				
HIST3H2A	92815	broad.mit.edu	37	1	228645204	228645204	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:228645204C>G	ENST00000366695.2	-	1	356	c.315G>C	c.(313-315)caG>caC	p.Q105H	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	105					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GGACGCCACCCTGCGCGATGG	0.682																																						ENST00000366695.2																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(313-315)caG>caC		histone cluster 3, H2a							72.0	67.0	69.0					1																	228645204		2203	4299	6502	SO:0001583	missense	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645204C>G	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.315G>C	1.37:g.228645204C>G	ENSP00000355656:p.Gln105His						p.Q105H	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN			1	356	-		Prostate(94;0.183)	105					B2R4S4	Missense_Mutation	SNP	ENST00000366695.2	37	c.315G>C	CCDS1573.1	.	.	.	.	.	.	.	.	.	.	.	16.29	3.080618	0.55753	.	.	ENSG00000181218	ENST00000366695	T	0.43688	0.94	3.64	3.64	0.41730	Histone-fold (2);Histone H2A (2);	0.000000	0.45867	D	0.000335	T	0.53449	0.1797	L	0.52126	1.63	0.42295	D	0.992158	D	0.89917	1.0	P	0.61397	0.888	T	0.57911	-0.7729	10	0.62326	D	0.03	.	13.6238	0.62153	0.0:1.0:0.0:0.0	.	105	Q7L7L0	H2A3_HUMAN	H	105	ENSP00000355656:Q105H	ENSP00000355656:Q105H	Q	-	3	2	HIST3H2A	226711827	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.784000	0.47774	2.324000	0.78689	0.655000	0.94253	CAG		0.682	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		31	101	0	0	0	1	0	31	101				
FRMPD1	22844	broad.mit.edu	37	9	37740854	37740854	+	Missense_Mutation	SNP	A	A	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr9:37740854A>G	ENST00000539465.1	+	15	2922	c.2329A>G	c.(2329-2331)Aag>Gag	p.K777E	FRMPD1_ENST00000377765.3_Missense_Mutation_p.K777E|FRMPD1_ENST00000536622.1_Missense_Mutation_p.K599E|FRMPD1_ENST00000541302.1_Missense_Mutation_p.K646E|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	777						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CGCGGCTGATAAGCTCACTCC	0.647																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(2329-2331)Aag>Gag		FERM and PDZ domain containing 1							40.0	41.0	41.0					9																	37740854		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37740854A>G	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2329A>G	9.37:g.37740854A>G	ENSP00000444411:p.Lys777Glu					FRMPD1_ENST00000536622.1_Missense_Mutation_p.K599E|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.K646E|FRMPD1_ENST00000377765.3_Missense_Mutation_p.K777E	p.K777E			Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	15	2922	+			777					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.2329A>G	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.501047	0.64298	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.20738	2.97;2.97;2.05;2.06	5.27	5.27	0.74061	.	0.522918	0.21021	N	0.081511	T	0.31167	0.0788	L	0.56769	1.78	0.28230	N	0.926131	P;D	0.60575	0.919;0.988	B;P	0.54759	0.375;0.76	T	0.14615	-1.0466	10	0.28530	T	0.3	-28.0284	9.398	0.38415	0.8204:0.1795:0.0:0.0	.	646;777	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	E	777;777;599;646	ENSP00000366995:K777E;ENSP00000444411:K777E;ENSP00000437762:K599E;ENSP00000444804:K646E	ENSP00000366995:K777E	K	+	1	0	FRMPD1	37730854	0.926000	0.31397	1.000000	0.80357	0.973000	0.67179	1.872000	0.39549	1.989000	0.58080	0.533000	0.62120	AAG		0.647	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		8	47	0	0	0	1	0	8	47				
AC002472.1	0	broad.mit.edu	37	22	21363392	21363392	+	5'Flank	SNP	G	G	A	rs28522842	byFrequency	TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr22:21363392G>A	ENST00000547793.2	-	0	0				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7-AS1_ENST00000436079.1_RNA																							GGGCCCCATCGAATCACAGGG	0.562													G|||	1384	0.276358	0.1475	0.4683	5008	,	,		20778	0.1508		0.4583	False		,,,				2504	0.2566					ENST00000452284.1																			0																																																	SO:0001631	upstream_gene_variant	439931							g.chr22:21363392G>A																													22.37:g.21363392G>A	Exception_encountered					THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA		NR_027051.1						0	1059	+									RNA	SNP	ENST00000547793.2	37																																																																																						0.562	AC002472.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				5	424	0	0	0	1	0	5	424				
RIF1	55183	broad.mit.edu	37	2	152293497	152293497	+	Missense_Mutation	SNP	A	A	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:152293497A>G	ENST00000243326.5	+	11	1835	c.1352A>G	c.(1351-1353)aAt>aGt	p.N451S	RIF1_ENST00000444746.2_Missense_Mutation_p.N451S|RIF1_ENST00000453091.2_Missense_Mutation_p.N451S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.N451S|RIF1_ENST00000430328.2_Missense_Mutation_p.N451S			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCTAAGCAAAATAAACTTGTG	0.368																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(1351-1353)aAt>aGt		RAP1 interacting factor homolog (yeast)							47.0	47.0	47.0					2																	152293497		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152293497A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.1352A>G	2.37:g.152293497A>G	ENSP00000243326:p.Asn451Ser					RIF1_ENST00000453091.2_Missense_Mutation_p.N451S|RIF1_ENST00000444746.2_Missense_Mutation_p.N451S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.N451S|RIF1_ENST00000430328.2_Missense_Mutation_p.N451S	p.N451S			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	11	1835	+			451					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.1352A>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978780	0.18812	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.77	4.58	0.56647	.	0.363394	0.34314	N	0.004080	T	0.16642	0.0400	L	0.54323	1.7	0.80722	D	1	B;P	0.50943	0.319;0.94	B;P	0.49708	0.075;0.62	T	0.03384	-1.1042	10	0.22109	T	0.4	-2.0468	12.5723	0.56344	0.861:0.139:0.0:0.0	.	451;451	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	S	451	ENSP00000390181:N451S;ENSP00000414615:N451S;ENSP00000415691:N451S;ENSP00000243326:N451S;ENSP00000416123:N451S	ENSP00000243326:N451S	N	+	2	0	RIF1	152001743	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	5.108000	0.64609	0.968000	0.38212	0.455000	0.32223	AAT		0.368	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			4	51	0	0	0	1	0	4	51				
RIOK3	8780	broad.mit.edu	37	18	21054989	21054989	+	Missense_Mutation	SNP	A	A	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr18:21054989A>G	ENST00000339486.3	+	9	1708	c.1091A>G	c.(1090-1092)cAt>cGt	p.H364R	RIOK3_ENST00000581585.1_Missense_Mutation_p.H348R|RIOK3_ENST00000577501.1_Missense_Mutation_p.H364R	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	364	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTTATTGGCCATGATCAAGTT	0.338																																						ENST00000339486.3																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.(1090-1092)cAt>cGt		RIO kinase 3							89.0	86.0	87.0					18																	21054989		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21054989A>G	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.1091A>G	18.37:g.21054989A>G	ENSP00000341874:p.His364Arg					RIOK3_ENST00000577501.1_Missense_Mutation_p.H364R|RIOK3_ENST00000581585.1_Missense_Mutation_p.H348R	p.H364R	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN			9	1708	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		364			Protein kinase.		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.1091A>G	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.682312	0.29872	.	.	ENSG00000101782	ENST00000339486	T	0.07444	3.19	5.98	4.83	0.62350	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.287010	0.43747	N	0.000531	T	0.03695	0.0105	N	0.02379	-0.575	0.35109	D	0.765985	B;B;B;B	0.12630	0.0;0.0;0.003;0.006	B;B;B;B	0.11329	0.006;0.0;0.001;0.001	T	0.37979	-0.9682	10	0.20046	T	0.44	-14.9447	12.3092	0.54920	0.9342:0.0:0.0658:0.0	.	108;348;364;364	E7ESK5;B4E1Q4;O14730-2;O14730	.;.;.;RIOK3_HUMAN	R	364	ENSP00000341874:H364R	ENSP00000341874:H364R	H	+	2	0	RIOK3	19308987	0.982000	0.34865	0.995000	0.50966	0.991000	0.79684	5.889000	0.69766	1.100000	0.41517	-0.272000	0.10252	CAT		0.338	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		12	83	0	0	0	1	0	12	83				
AKAP11	11215	broad.mit.edu	37	13	42875133	42875133	+	Missense_Mutation	SNP	A	A	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr13:42875133A>G	ENST00000025301.2	+	8	2426	c.2251A>G	c.(2251-2253)Att>Gtt	p.I751V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	751					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CAATCAAGCAATTATGGTGAC	0.418																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(2251-2253)Att>Gtt		A kinase (PRKA) anchor protein 11							169.0	156.0	161.0					13																	42875133		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42875133A>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.2251A>G	13.37:g.42875133A>G	ENSP00000025301:p.Ile751Val						p.I751V	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	2426	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	751					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.2251A>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.260014	0.00262	.	.	ENSG00000023516	ENST00000025301	T	0.12774	2.65	5.98	-10.1	0.00402	.	1.075470	0.07187	N	0.854986	T	0.03695	0.0105	N	0.01800	-0.715	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48768	-0.9006	10	0.10377	T	0.69	.	12.3593	0.55194	0.2402:0.2418:0.518:0.0	.	751	Q9UKA4	AKA11_HUMAN	V	751	ENSP00000025301:I751V	ENSP00000025301:I751V	I	+	1	0	AKAP11	41773133	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-1.934000	0.01552	-1.501000	0.01817	0.482000	0.46254	ATT		0.418	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		13	58	0	0	0	1	0	13	58				
IGKV1D-42	28892	broad.mit.edu	37	2	90229073	90229073	+	RNA	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:90229073G>A	ENST00000390278.2	+	0	29									immunoglobulin kappa variable 1D-42 (non-functional)																		GCATGGACATGAGGGTCCCCG	0.562																																						ENST00000390278.2																			0																				134.0	141.0	138.0					2																	90229073		1847	4058	5905			28892							g.chr2:90229073G>A	X72816		2p11.2	2012-02-08	2008-09-09		ENSG00000211633	ENSG00000211633		"""Immunoglobulins / IGK locus"""	5757	other	immunoglobulin gene			"""immunoglobulin kappa variable 1D-42"""				Standard	NG_000833		Approved				OTTHUMG00000151573		2.37:g.90229073G>A														0	29	+									RNA	SNP	ENST00000390278.2	37																																																																																						0.562	IGKV1D-42-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323148.1	NG_000833		26	104	0	0	0	1	0	26	104				
HERC2P2	400322	broad.mit.edu	37	15	23283320	23283320	+	RNA	SNP	C	C	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr15:23283320C>A	ENST00000560464.1	-	0	5097									hect domain and RLD 2 pseudogene 2																		CAGCGTGTGCCTTTTCCTTCC	0.453																																						ENST00000560464.1																			0																																																			400322							g.chr15:23283320C>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23283320C>A														0	5097	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.453	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			4	38	1	0	0.184627	1	0.185701	4	38				
GABRA1	2554	broad.mit.edu	37	5	161324132	161324132	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr5:161324132G>A	ENST00000428797.2	+	11	1430	c.1075G>A	c.(1075-1077)Gat>Aat	p.D359N	GABRA1_ENST00000444819.1_Missense_Mutation_p.D359N|GABRA1_ENST00000437025.2_Missense_Mutation_p.D359N|GABRA1_ENST00000023897.6_Missense_Mutation_p.D359N|GABRA1_ENST00000420560.1_Missense_Mutation_p.D359N|GABRA1_ENST00000393943.4_Missense_Mutation_p.D359N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	359					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GAAAGTAAAGGATCCTCTTAT	0.423																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1075-1077)Gat>Aat		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						86.0	98.0	94.0					5																	161324132		2203	4300	6503	SO:0001583	missense	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161324132G>A		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1075G>A	5.37:g.161324132G>A	ENSP00000393097:p.Asp359Asn					GABRA1_ENST00000393943.4_Missense_Mutation_p.D359N|GABRA1_ENST00000444819.1_Missense_Mutation_p.D359N|GABRA1_ENST00000023897.6_Missense_Mutation_p.D359N|GABRA1_ENST00000420560.1_Missense_Mutation_p.D359N|GABRA1_ENST00000437025.2_Missense_Mutation_p.D359N	p.D359N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	11	1430	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	359					D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	c.1075G>A	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614146	0.46631	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.051711	0.85682	D	0.000000	T	0.71476	0.3344	N	0.19112	0.55	0.58432	D	0.999998	B	0.12013	0.005	B	0.14023	0.01	T	0.64931	-0.6291	10	0.37606	T	0.19	.	19.3564	0.94416	0.0:0.0:1.0:0.0	.	359	P14867	GBRA1_HUMAN	N	359	ENSP00000023897:D359N;ENSP00000393097:D359N;ENSP00000377517:D359N;ENSP00000415441:D359N;ENSP00000408041:D359N;ENSP00000414232:D359N	ENSP00000023897:D359N	D	+	1	0	GABRA1	161256710	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.520000	0.81821	2.642000	0.89623	0.563000	0.77884	GAT		0.423	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		14	105	0	0	0	1	0	14	105				
DPRX	503834	broad.mit.edu	37	19	54140088	54140088	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:54140088C>G	ENST00000376650.1	+	3	473	c.422C>G	c.(421-423)gCa>gGa	p.A141G		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAGGTCCCTGCAAATGACTTC	0.532																																						ENST00000376650.1																			0				endometrium(4)|large_intestine(1)|lung(7)	12						c.(421-423)gCa>gGa		divergent-paired related homeobox							124.0	112.0	116.0					19																	54140088		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54140088C>G		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.422C>G	19.37:g.54140088C>G	ENSP00000365838:p.Ala141Gly						p.A141G	NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	3	473	+	Ovarian(34;0.19)		141						Missense_Mutation	SNP	ENST00000376650.1	37	c.422C>G	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	c	3.317	-0.139463	0.06669	.	.	ENSG00000204595	ENST00000376650	D	0.94457	-3.43	1.45	0.364	0.16124	.	.	.	.	.	D	0.82554	0.5062	N	0.19112	0.55	0.09310	N	1	P	0.41524	0.753	B	0.24541	0.054	T	0.74850	-0.3524	9	0.23302	T	0.38	.	3.9184	0.09233	0.0:0.762:0.0:0.238	.	141	A6NFQ7	DPRX_HUMAN	G	141	ENSP00000365838:A141G	ENSP00000365838:A141G	A	+	2	0	DPRX	58831900	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.245000	0.32790	0.173000	0.19788	-0.291000	0.09656	GCA		0.532	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		19	111	0	0	0	1	0	19	111				
PPP4R1	9989	broad.mit.edu	37	18	9550142	9550142	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr18:9550142T>C	ENST00000400556.3	-	18	2528	c.2455A>G	c.(2455-2457)Acg>Gcg	p.T819A	PPP4R1_ENST00000400555.3_Missense_Mutation_p.T802A	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	819					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						ACTCCGAACGTTGGTGGTGTT	0.522																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(2455-2457)Acg>Gcg		protein phosphatase 4, regulatory subunit 1							77.0	87.0	84.0					18																	9550142		2063	4212	6275	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9550142T>C	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.2455A>G	18.37:g.9550142T>C	ENSP00000383402:p.Thr819Ala					PPP4R1_ENST00000400555.3_Missense_Mutation_p.T802A	p.T819A	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN			18	2528	-			819					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.2455A>G	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	T	0.231	-1.021319	0.02061	.	.	ENSG00000154845	ENST00000400556;ENST00000400555	T;T	0.31510	1.49;1.49	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);	0.113381	0.64402	D	0.000009	T	0.14917	0.0360	N	0.03608	-0.345	0.46376	D	0.99901	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.002;0.002;0.006	T	0.15150	-1.0447	9	.	.	.	-6.8332	14.6895	0.69072	0.0:0.0:0.0:1.0	.	802;819;802	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	A	819;802	ENSP00000383402:T819A;ENSP00000383401:T802A	.	T	-	1	0	PPP4R1	9540142	1.000000	0.71417	0.039000	0.18376	0.009000	0.06853	3.162000	0.50755	2.263000	0.75096	0.533000	0.62120	ACG		0.522	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		15	42	0	0	0	1	0	15	42				
PPP2R5D	5528	broad.mit.edu	37	6	42975003	42975003	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr6:42975003G>A	ENST00000485511.1	+	5	771	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E190K|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E166K|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E92K	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	198					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGACCCAGAGGAAGATGAGCC	0.607																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(592-594)Gaa>Aaa		protein phosphatase 2, regulatory subunit B', delta							111.0	113.0	112.0					6																	42975003		2203	4300	6503	SO:0001583	missense	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42975003G>A	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.592G>A	6.37:g.42975003G>A	ENSP00000417963:p.Glu198Lys					PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E190K|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E166K|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E92K	p.E198K	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		5	771	+			198					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	c.592G>A	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.783296|5.783296	0.96937|0.96937	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	T;T;T;T|.	0.56444|.	0.46;0.48;0.47;0.53|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87038|0.87038	0.6078|0.6078	H|H	0.95224|0.95224	3.64|3.64	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;0.997|.	D;D;D;D|.	0.83275|.	0.98;0.996;0.962;0.937|.	D|D	0.89882|0.89882	0.4031|0.4031	10|5	0.87932|.	D|.	0|.	-18.308|-18.308	20.1551|20.1551	0.98106|0.98106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	92;198;198;166|.	Q14738-3;F5GYS1;Q14738;Q14738-2|.	.;.;2A5D_HUMAN;.|.	K|E	198;166;190;198;92|117	ENSP00000417963:E198K;ENSP00000377669:E166K;ENSP00000420550:E190K;ENSP00000420674:E92K|.	ENSP00000377669:E166K|.	E|G	+|+	1|2	0|0	PPP2R5D|PPP2R5D	43082981|43082981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.607	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		28	162	0	0	0	1	0	28	162				
FAM27L	284123	broad.mit.edu	37	17	21826266	21826266	+	lincRNA	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:21826266G>C	ENST00000426869.3	+	0	449					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		AGGAATGGGAGATGGCAACAA	0.547																																						ENST00000426869.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14								family with sequence similarity 27-like							59.0	65.0	63.0					17																	21826266		2025	4173	6198			284123							g.chr17:21826266G>C	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21826266G>C								NR_028336.1					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	0	449	+									RNA	SNP	ENST00000426869.3	37			.	.	.	.	.	.	.	.	.	.	G	1.268	-0.613927	0.03690	.	.	ENSG00000178130	ENST00000426869	.	.	.	0.158	0.158	0.14942	.	.	.	.	.	T	0.53029	0.1771	.	.	.	0.23855	N	0.996652	.	.	.	.	.	.	T	0.62364	-0.6870	3	0.87932	D	0	.	.	.	.	.	.	.	.	T	82	.	ENSP00000388448:R82T	R	+	2	0	FAM27L	21750393	0.018000	0.18449	0.031000	0.17742	0.031000	0.12232	0.203000	0.17315	0.202000	0.20498	0.205000	0.17691	AGA		0.547	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		9	47	0	0	0	1	0	9	47				
GLB1L	79411	broad.mit.edu	37	2	220102604	220102604	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:220102604T>C	ENST00000295759.7	-	15	1730	c.1417A>G	c.(1417-1419)Atc>Gtc	p.I473V	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.I383V|GLB1L_ENST00000392089.2_Missense_Mutation_p.I473V|GLB1L_ENST00000356283.3_Missense_Mutation_p.I383V			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	473					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCACCAAGATATCCAGTTTG	0.478																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1417-1419)Atc>Gtc		galactosidase, beta 1-like							107.0	98.0	101.0					2																	220102604		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220102604T>C		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1417A>G	2.37:g.220102604T>C	ENSP00000295759:p.Ile473Val					GLB1L_ENST00000409640.1_Missense_Mutation_p.I383V|GLB1L_ENST00000356283.3_Missense_Mutation_p.I383V|GLB1L_ENST00000392089.2_Missense_Mutation_p.I473V|GLB1L_ENST00000497855.1_5'UTR	p.I473V			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1730	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	473					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.1417A>G	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843337	0.32606	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.46	-0.886	0.10590	.	0.382752	0.30356	N	0.009805	D	0.86736	0.6004	L	0.37750	1.13	0.43222	D	0.995105	B;B	0.18610	0.003;0.029	B;B	0.21151	0.002;0.033	T	0.73424	-0.3987	10	0.36615	T	0.2	-9.4145	8.2925	0.31965	0.0:0.2446:0.1135:0.6419	.	383;473	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	V	473;383;473;383	ENSP00000295759:I473V;ENSP00000386354:I383V;ENSP00000375939:I473V;ENSP00000348628:I383V	ENSP00000295759:I473V	I	-	1	0	GLB1L	219810848	0.847000	0.29606	0.940000	0.37924	0.939000	0.58152	0.069000	0.14552	-0.254000	0.09500	0.533000	0.62120	ATC		0.478	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		12	55	0	0	0	1	0	12	55				
PLAT	5327	broad.mit.edu	37	8	42044968	42044968	+	Missense_Mutation	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr8:42044968C>T	ENST00000220809.4	-	6	743	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	PLAT_ENST00000270189.6_Missense_Mutation_p.G163R|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.G163R|PLAT_ENST00000352041.3_Missense_Mutation_p.G117R|PLAT_ENST00000519510.1_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	163	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)	p.G163R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GGCCTCCGCCCGCTGTAGGGC	0.652																																						ENST00000220809.4																			1	Substitution - Missense(1)	p.G163R(1)	lung(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(487-489)Ggg>Agg		plasminogen activator, tissue	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						45.0	44.0	44.0					8																	42044968		2203	4300	6503	SO:0001583	missense	5327				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr8:42044968C>T		CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.487G>A	8.37:g.42044968C>T	ENSP00000220809:p.Gly163Arg					PLAT_ENST00000519510.1_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.G163R|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.G117R|PLAT_ENST00000429089.2_Missense_Mutation_p.G163R|PLAT_ENST00000524009.1_Intron	p.G163R	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		6	743	-	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	163			Kringle 1.		A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	ENST00000220809.4	37	c.487G>A	CCDS6126.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942903	0.73672	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000520523	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.95	5.95	0.96441	Kringle (4);Kringle-like fold (1);	0.202530	0.50627	D	0.000111	T	0.74489	0.3723	L	0.56199	1.76	0.29597	N	0.848019	D;D;D	0.64830	0.994;0.98;0.985	P;P;P	0.61132	0.833;0.559;0.884	T	0.69113	-0.5231	10	0.40728	T	0.16	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	163;117;163	B8ZX62;P00750-3;P00750	.;.;TPA_HUMAN	R	163;163;163;117;163	ENSP00000270189:G163R;ENSP00000392045:G163R;ENSP00000220809:G163R;ENSP00000270188:G117R;ENSP00000428797:G163R	ENSP00000220809:G163R	G	-	1	0	PLAT	42164125	0.686000	0.27661	0.017000	0.16124	0.241000	0.25554	5.412000	0.66392	2.824000	0.97209	0.655000	0.94253	GGG		0.652	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377100.1	NM_000930		4	34	0	0	0	1	0	4	34				
EVPL	2125	broad.mit.edu	37	17	74006034	74006034	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:74006034C>G	ENST00000301607.3	-	22	3505	c.3252G>C	c.(3250-3252)aaG>aaC	p.K1084N	EVPL_ENST00000586740.1_Missense_Mutation_p.K1106N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1084	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTTCCAGATTCTTCTCCACCT	0.597																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(3250-3252)aaG>aaC		envoplakin							146.0	136.0	139.0					17																	74006034		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006034C>G	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3252G>C	17.37:g.74006034C>G	ENSP00000301607:p.Lys1084Asn					EVPL_ENST00000586740.1_Missense_Mutation_p.K1106N	p.K1084N	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3505	-			1084			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3252G>C	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564082	0.27915	.	.	ENSG00000167880	ENST00000301607	T	0.51325	0.71	5.17	2.81	0.32909	.	0.107032	0.64402	D	0.000005	T	0.54095	0.1837	L	0.60455	1.87	0.34538	D	0.709973	D;D	0.61080	0.989;0.986	P;P	0.55749	0.783;0.638	T	0.64305	-0.6439	10	0.27082	T	0.32	-51.8848	12.6078	0.56532	0.0:0.7877:0.0:0.2123	.	1106;1084	B7ZLH8;Q92817	.;EVPL_HUMAN	N	1084	ENSP00000301607:K1084N	ENSP00000301607:K1084N	K	-	3	2	EVPL	71517629	0.994000	0.37717	1.000000	0.80357	0.682000	0.39822	0.432000	0.21461	1.198000	0.43158	-0.332000	0.08345	AAG		0.597	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		32	131	0	0	0	1	0	32	131				
TNR	7143	broad.mit.edu	37	1	175375841	175375841	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:175375841C>G	ENST00000367674.2	-	3	718	c.10G>C	c.(10-12)Gat>Cat	p.D4H	TNR_ENST00000263525.2_Missense_Mutation_p.D4H			Q92752	TENR_HUMAN	tenascin R	4					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTTCCCCATCTGCCCCCATC	0.532																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(10-12)Gat>Cat		tenascin R							108.0	102.0	104.0					1																	175375841		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375841C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.10G>C	1.37:g.175375841C>G	ENSP00000356646:p.Asp4His					TNR_ENST00000263525.2_Missense_Mutation_p.D4H	p.D4H	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			3	718	-	Renal(580;0.146)		4					C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.10G>C	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196899	0.58126	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.27557	1.66;1.66	5.56	5.56	0.83823	.	0.356365	0.29791	N	0.011182	T	0.36110	0.0955	L	0.27053	0.805	0.46499	D	0.99907	D;P	0.58620	0.983;0.778	P;B	0.51487	0.671;0.299	T	0.16070	-1.0415	10	0.87932	D	0	.	19.1256	0.93382	0.0:1.0:0.0:0.0	.	4;4	B4DIX8;Q92752	.;TENR_HUMAN	H	4	ENSP00000356646:D4H;ENSP00000263525:D4H	ENSP00000263525:D4H	D	-	1	0	TNR	173642464	0.996000	0.38824	0.397000	0.26308	0.997000	0.91878	3.983000	0.56916	2.609000	0.88269	0.561000	0.74099	GAT		0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		19	102	0	0	0	1	0	19	102				
GKAP1	80318	broad.mit.edu	37	9	86421439	86421439	+	De_novo_Start_InFrame	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr9:86421439G>C	ENST00000376371.2	-	0	394				GKAP1_ENST00000376365.3_De_novo_Start_InFrame	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1						signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						CCATCGTAAAGATTTTTCTTT	0.423																																						ENST00000376371.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14								G kinase anchoring protein 1							40.0	42.0	41.0					9																	86421439		2203	4300	6503			80318				signal transduction	Golgi apparatus		g.chr9:86421439G>C	BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106		9.37:g.86421439G>C						GKAP1_ENST00000376365.3_De_novo_Start_InFrame		NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN			0	394	-								Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Translation_Start_Site	SNP	ENST00000376371.2	37		CCDS35049.1																																																																																				0.423	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052839.2	NM_025211		5	32	0	0	0	1	0	5	32				
PRMT2	3275	broad.mit.edu	37	21	48078668	48078668	+	Missense_Mutation	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr21:48078668G>C	ENST00000397637.1	+	7	1620	c.666G>C	c.(664-666)atG>atC	p.M222I	PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000355680.3_Missense_Mutation_p.M222I|PRMT2_ENST00000397638.2_Missense_Mutation_p.M222I|PRMT2_ENST00000451211.2_Missense_Mutation_p.M222I|PRMT2_ENST00000291705.6_Intron			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	222	Interaction with ESR1.|SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TTGAGTTCATGATCGAGTCCA	0.567																																						ENST00000397637.1																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(664-666)atG>atC		protein arginine methyltransferase 2							162.0	122.0	136.0					21																	48078668		2203	4300	6503	SO:0001583	missense	3275				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	g.chr21:48078668G>C	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.666G>C	21.37:g.48078668G>C	ENSP00000380759:p.Met222Ile					PRMT2_ENST00000397638.2_Missense_Mutation_p.M222I|PRMT2_ENST00000451211.2_Missense_Mutation_p.M222I|PRMT2_ENST00000458387.2_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000355680.3_Missense_Mutation_p.M222I|PRMT2_ENST00000440086.1_Intron	p.M222I			P55345	ANM2_HUMAN		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)	7	1620	+	Breast(49;0.247)	Lung NSC(3;0.245)	222			Interaction with ESR1.		B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	ENST00000397637.1	37	c.666G>C	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	.	29.2	4.985971	0.93044	.	.	ENSG00000160310	ENST00000355680;ENST00000397638;ENST00000451211;ENST00000397637;ENST00000379844	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.14	5.14	0.70334	.	0.042088	0.85682	D	0.000000	T	0.54447	0.1859	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	0.987;0.999;1.0	P;D;D	0.77004	0.719;0.959;0.989	T	0.63014	-0.6731	9	.	.	.	-10.6765	16.4975	0.84249	0.0:0.0:1.0:0.0	.	222;108;222	B7U630;Q49AF9;P55345	.;.;ANM2_HUMAN	I	222;222;222;222;108	ENSP00000347906:M222I;ENSP00000380760:M222I;ENSP00000411984:M222I;ENSP00000380759:M222I	.	M	+	3	0	PRMT2	46903096	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.778000	0.75043	2.567000	0.86603	0.563000	0.77884	ATG		0.567	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207401.1	NM_001535		9	56	0	0	0	1	0	9	56				
COL14A1	7373	broad.mit.edu	37	8	121301912	121301912	+	Missense_Mutation	SNP	G	G	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr8:121301912G>T	ENST00000297848.3	+	34	4413	c.4143G>T	c.(4141-4143)aaG>aaT	p.K1381N	COL14A1_ENST00000247781.3_Missense_Mutation_p.K1286N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1381N	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)			TGGGTGAGAAGGCAATGAACG	0.438																																						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.(4141-4143)aaG>aaT		collagen, type XIV, alpha 1							182.0	159.0	167.0					8																	121301912		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.chr8:121301912G>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.4143G>T	8.37:g.121301912G>T	ENSP00000297848:p.Lys1381Asn					COL14A1_ENST00000247781.3_Missense_Mutation_p.K1286N|COL14A1_ENST00000309791.4_Missense_Mutation_p.K1381N	p.K1381N	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		34	4413	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1381			Nonhelical region (NC4).|TSP N-terminal.			Missense_Mutation	SNP	ENST00000297848.3	37	c.4143G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746342	0.49257	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.02323	4.34;4.34;4.34	5.95	3.75	0.43078	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.042970	0.85682	D	0.000000	T	0.05731	0.0150	M	0.78049	2.395	0.80722	D	1	P	0.46706	0.883	B	0.40375	0.327	T	0.18999	-1.0319	10	0.66056	D	0.02	.	11.0837	0.48074	0.266:0.0:0.734:0.0	.	1381	Q05707	COEA1_HUMAN	N	1381;1381;1286	ENSP00000311809:K1381N;ENSP00000297848:K1381N;ENSP00000247781:K1286N	ENSP00000247781:K1286N	K	+	3	2	COL14A1	121371093	0.996000	0.38824	1.000000	0.80357	0.350000	0.29205	1.182000	0.32029	1.438000	0.47492	0.491000	0.48974	AAG		0.438	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		10	85	1	0	0.000442599	1	0.000464059	10	85				
DHX36	170506	broad.mit.edu	37	3	154002694	154002694	+	Missense_Mutation	SNP	A	A	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:154002694A>T	ENST00000496811.1	-	18	2194	c.2114T>A	c.(2113-2115)aTg>aAg	p.M705K	DHX36_ENST00000329463.5_Missense_Mutation_p.M691K|DHX36_ENST00000308361.6_Missense_Mutation_p.M705K|DHX36_ENST00000544526.1_Missense_Mutation_p.M691K	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	705					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAAAAGAATCATTTTTCCAAT	0.418																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(2113-2115)aTg>aAg		DEAH (Asp-Glu-Ala-His) box polypeptide 36							118.0	111.0	113.0					3																	154002694		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154002694A>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2114T>A	3.37:g.154002694A>T	ENSP00000417078:p.Met705Lys					DHX36_ENST00000544526.1_Missense_Mutation_p.M691K|DHX36_ENST00000329463.5_Missense_Mutation_p.M691K|DHX36_ENST00000308361.6_Missense_Mutation_p.M705K	p.M705K	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		18	2194	-			705					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2114T>A	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.0|28.0	4.879811|4.879811	0.91740|0.91740	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941|ENST00000469977	T;T;T;T;T|.	0.38240|.	1.15;1.15;1.15;1.15;1.15|.	5.56|5.56	5.56|5.56	0.83823|0.83823	Helicase-associated domain (2);|.	0.037136|.	0.85682|.	D|.	0.000000|.	D|.	0.89361|.	0.6693|.	H|H	0.98965|0.98965	4.385|4.385	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.998;0.995;0.999|.	D;D;D|.	0.78314|.	0.984;0.975;0.991|.	D|.	0.93643|.	0.6966|.	10|.	0.87932|.	D|.	0|.	.|.	15.7737|15.7737	0.78193|0.78193	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	691;705;705|.	Q9H2U1-2;Q9H2U1-3;Q9H2U1|.	.;.;DHX36_HUMAN|.	K|R	705;705;691;691;619|152	ENSP00000417078:M705K;ENSP00000309296:M705K;ENSP00000444247:M691K;ENSP00000330113:M691K;ENSP00000419862:M619K|.	ENSP00000309296:M705K|.	M|X	-|-	2|1	0|0	DHX36|DHX36	155485388|155485388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.150000|9.150000	0.94667|0.94667	2.135000|2.135000	0.66039|0.66039	0.529000|0.529000	0.55759|0.55759	ATG|TGA		0.418	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		11	61	0	0	0	1	0	11	61				
BAZ2B	29994	broad.mit.edu	37	2	160206325	160206325	+	Missense_Mutation	SNP	G	G	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:160206325G>T	ENST00000392783.2	-	28	5252	c.4757C>A	c.(4756-4758)cCt>cAt	p.P1586H	BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1550H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1552H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1486H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1586					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTGAGACTGAGGAGTCACCAA	0.448																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(4756-4758)cCt>cAt		bromodomain adjacent to zinc finger domain, 2B							157.0	153.0	154.0					2																	160206325		2104	4227	6331	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160206325G>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4757C>A	2.37:g.160206325G>T	ENSP00000376534:p.Pro1586His					BAZ2B_ENST00000392782.1_Missense_Mutation_p.P1550H|BAZ2B_ENST00000355831.2_Missense_Mutation_p.P1552H|BAZ2B_ENST00000343439.5_Missense_Mutation_p.P1486H	p.P1586H	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			28	5252	-			1586					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.4757C>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303334	0.40795	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.69685	-0.42;-0.34;-0.42;-0.35	6.06	6.06	0.98353	.	0.000000	0.36854	U	0.002371	T	0.80423	0.4620	L	0.60455	1.87	0.50467	D	0.999878	D;D	0.89917	1.0;1.0	D;D	0.68943	0.961;0.942	T	0.79240	-0.1885	10	0.59425	D	0.04	-12.1032	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1550;1586	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	H	1550;1586;1552;1486	ENSP00000376533:P1550H;ENSP00000376534:P1586H;ENSP00000348087:P1552H;ENSP00000339670:P1486H	ENSP00000339670:P1486H	P	-	2	0	BAZ2B	159914571	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.936000	0.63506	2.882000	0.98803	0.655000	0.94253	CCT		0.448	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			17	93	1	0	2.5808e-16	1	3.01674e-16	17	93				
LRRC7	57554	broad.mit.edu	37	1	70505386	70505386	+	Silent	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:70505386T>A	ENST00000035383.5	+	19	3795	c.3765T>A	c.(3763-3765)acT>acA	p.T1255T	LRRC7_ENST00000310961.5_Silent_p.T1260T|LRRC7_ENST00000415775.2_Silent_p.T539T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1255						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGAGGCCTACTCCTGTGAAGG	0.448																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3778-3780)acT>acA		leucine rich repeat containing 7							86.0	85.0	85.0					1																	70505386		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505386T>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3765T>A	1.37:g.70505386T>A						LRRC7_ENST00000415775.2_Silent_p.T539T|LRRC7_ENST00000035383.5_Silent_p.T1255T	p.T1260T			Q96NW7	LRRC7_HUMAN			22	4198	+			1255					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.3780T>A	CCDS645.1																																																																																				0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		5	78	0	0	0	1	0	5	78				
SLAMF7	57823	broad.mit.edu	37	1	160721236	160721236	+	Missense_Mutation	SNP	A	A	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:160721236A>C	ENST00000368043.3	+	5	908	c.871A>C	c.(871-873)Aat>Cat	p.N291H	SLAMF7_ENST00000441662.2_Missense_Mutation_p.N160H|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.N184H|SLAMF7_ENST00000458602.2_Missense_Mutation_p.N144H	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	291					cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCCTCACACTAATGTGAGTCC	0.468																																						ENST00000368043.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24						c.(871-873)Aat>Cat		SLAM family member 7							157.0	132.0	141.0					1																	160721236		2203	4300	6503	SO:0001583	missense	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160721236A>C	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.871A>C	1.37:g.160721236A>C	ENSP00000357022:p.Asn291His					SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Intron|SLAMF7_ENST00000441662.2_Missense_Mutation_p.N160H|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.N184H|SLAMF7_ENST00000458602.2_Missense_Mutation_p.N144H	p.N291H	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	908	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		291					A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	ENST00000368043.3	37	c.871A>C	CCDS1209.1	.	.	.	.	.	.	.	.	.	.	A	9.432	1.085869	0.20390	.	.	ENSG00000026751	ENST00000441662;ENST00000368043;ENST00000368042;ENST00000458602	T;T;T;T	0.44482	1.83;0.92;0.92;2.14	4.15	-8.3	0.01005	.	2.078680	0.01860	N	0.036542	T	0.10294	0.0252	L	0.38175	1.15	0.09310	N	0.999997	B;B;B;B;B	0.25743	0.004;0.007;0.133;0.051;0.03	B;B;B;B;B	0.25759	0.007;0.003;0.063;0.037;0.017	T	0.07673	-1.0760	10	0.46703	T	0.11	1.0909	3.1276	0.06412	0.1565:0.2918:0.4429:0.1089	.	144;160;197;184;291	B4DWA3;B4DPU4;B4DW98;Q9NQ25-2;Q9NQ25	.;.;.;.;SLAF7_HUMAN	H	160;291;184;144	ENSP00000405605:N160H;ENSP00000357022:N291H;ENSP00000357021:N184H;ENSP00000409965:N144H	ENSP00000357021:N184H	N	+	1	0	SLAMF7	158987860	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.794000	0.04584	-1.892000	0.01108	-0.248000	0.11899	AAT		0.468	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181		18	136	0	0	0	1	0	18	136				
RPS3	6188	broad.mit.edu	37	11	75115170	75115170	+	Missense_Mutation	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:75115170G>C	ENST00000531188.1	+	5	519	c.457G>C	c.(457-459)Gtg>Ctg	p.V153L	RPS3_ENST00000527446.1_Missense_Mutation_p.V153L|RPS3_ENST00000278572.6_Missense_Mutation_p.V169L|RPS3_ENST00000526608.1_Missense_Mutation_p.V141L|SNORD15B_ENST00000384714.1_RNA|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000524851.1_Missense_Mutation_p.V153L	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	153					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CATGAAGTTTGTGGATGGCCT	0.552																																						ENST00000531188.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(457-459)Gtg>Ctg		ribosomal protein S3							112.0	97.0	102.0					11																	75115170		2200	4293	6493	SO:0001583	missense	6188				activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome	g.chr11:75115170G>C		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"""S ribosomal proteins"""	10420	protein-coding gene	gene with protein product	"""IMR-90 ribosomal protein S3"", ""40S ribosomal protein S3"""	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.457G>C	11.37:g.75115170G>C	ENSP00000434643:p.Val153Leu					RPS3_ENST00000527446.1_Missense_Mutation_p.V153L|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000278572.6_Missense_Mutation_p.V169L|RPS3_ENST00000524851.1_Missense_Mutation_p.V153L|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000526608.1_Missense_Mutation_p.V141L	p.V153L	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN			5	519	+			153					B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	37	c.457G>C	CCDS8236.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.24|19.24	3.789757|3.789757	0.70337|0.70337	.|.	.|.	ENSG00000149273|ENSG00000149273	ENST00000525933|ENST00000531188;ENST00000422465;ENST00000278572;ENST00000527446;ENST00000526608;ENST00000524851;ENST00000528847	.|.	.|.	.|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|Ribosomal protein S3, conserved site (1);Ribosomal protein S3, C-terminal (3);	.|0.109048	.|0.64402	.|D	.|0.000007	T|T	0.58032|0.58032	0.2094|0.2094	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.15484	.|0.013	T|T	0.56733|0.56733	-0.7930|-0.7930	5|9	.|0.66056	.|D	.|0.02	-18.6916|-18.6916	16.3224|16.3224	0.82956|0.82956	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|153	.|P23396	.|RS3_HUMAN	F|L	80|153;27;169;153;141;153;27	.|.	.|ENSP00000278572:V169L	L|V	+|+	3|1	2|0	RPS3|RPS3	74792818|74792818	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.654000|9.654000	0.98509|0.98509	2.724000|2.724000	0.93272|0.93272	0.645000|0.645000	0.84053|0.84053	TTG|GTG		0.552	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005		19	75	0	0	0	1	0	19	75				
ZNF702P	79986	broad.mit.edu	37	19	53473609	53473609	+	RNA	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:53473609T>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GCCACTCTCATTACATTGGAA	0.328																																						ENST00000600068.1																			0																				23.0	18.0	19.0					19																	53473609		692	1590	2282			79986							g.chr19:53473609T>A																													19.37:g.53473609T>A						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.328	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			12	75	0	0	0	1	0	12	75				
BAI1	575	broad.mit.edu	37	8	143614818	143614818	+	Silent	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr8:143614818C>T	ENST00000517894.1	+	25	4455	c.3561C>T	c.(3559-3561)ctC>ctT	p.L1187L	BAI1_ENST00000323289.5_Silent_p.L1187L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1187					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACTGTATCCTCCGTAGAGAGG	0.677																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3559-3561)ctC>ctT		brain-specific angiogenesis inhibitor 1							35.0	41.0	39.0					8																	143614818		2127	4248	6375	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143614818C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3561C>T	8.37:g.143614818C>T						BAI1_ENST00000323289.5_Silent_p.L1187L	p.L1187L			O14514	BAI1_HUMAN			25	4455	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1187						Silent	SNP	ENST00000517894.1	37	c.3561C>T																																																																																					0.677	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		8	66	0	0	0	1	0	8	66				
PEX12	5193	broad.mit.edu	37	17	33903191	33903191	+	Missense_Mutation	SNP	C	C	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:33903191C>A	ENST00000225873.4	-	3	1297	c.690G>T	c.(688-690)gaG>gaT	p.E230D	RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	230					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTTTATCTTCTCACTAACAC	0.393																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(688-690)gaG>gaT		peroxisomal biogenesis factor 12							59.0	59.0	59.0					17																	33903191		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33903191C>A	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.690G>T	17.37:g.33903191C>A	ENSP00000225873:p.Glu230Asp						p.E230D	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1297	-			230					B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.690G>T	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589203	0.28357	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.84730	-1.89	5.04	3.05	0.35203	Pex, N-terminal (1);	0.718540	0.14438	N	0.319584	T	0.71134	0.3304	L	0.32530	0.975	0.37476	D	0.915818	B	0.02656	0.0	B	0.04013	0.001	T	0.58847	-0.7564	10	0.13108	T	0.6	-6.9631	1.7974	0.03064	0.1688:0.4896:0.1631:0.1785	.	230	O00623	PEX12_HUMAN	D	230	ENSP00000225873:E230D	ENSP00000225873:E230D	E	-	3	2	PEX12	30927304	0.994000	0.37717	0.994000	0.49952	0.973000	0.67179	0.686000	0.25392	0.709000	0.31976	0.655000	0.94253	GAG		0.393	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		9	42	1	0	0.000274275	1	0.000289327	9	42				
RRAS2	22800	broad.mit.edu	37	11	14316369	14316369	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:14316369C>G	ENST00000256196.4	-	3	549	c.236G>C	c.(235-237)aGa>aCa	p.R79T	RRAS2_ENST00000414023.2_Missense_Mutation_p.R2T|RRAS2_ENST00000532814.1_Missense_Mutation_p.R2T|RRAS2_ENST00000529237.1_Missense_Mutation_p.R2T|RRAS2_ENST00000526063.1_Missense_Mutation_p.R2T|RRAS2_ENST00000537760.1_Missense_Mutation_p.R44T|RRAS2_ENST00000534746.1_Missense_Mutation_p.R2T|RRAS2_ENST00000545643.1_Missense_Mutation_p.R85T			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	79					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		ATACTGTTCTCTCATGGCTCC	0.393																																						ENST00000545643.1																			0				breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12						c.(253-255)aGa>aCa		related RAS viral (r-ras) oncogene homolog 2							137.0	139.0	138.0					11																	14316369		2200	4294	6494	SO:0001583	missense	22800					endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr11:14316369C>G	M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.236G>C	11.37:g.14316369C>G	ENSP00000256196:p.Arg79Thr					RRAS2_ENST00000532814.1_Missense_Mutation_p.R2T|RRAS2_ENST00000534746.1_Missense_Mutation_p.R2T|RRAS2_ENST00000537760.1_Missense_Mutation_p.R44T|RRAS2_ENST00000256196.4_Missense_Mutation_p.R79T|RRAS2_ENST00000414023.2_Missense_Mutation_p.R2T|RRAS2_ENST00000529237.1_Missense_Mutation_p.R2T|RRAS2_ENST00000526063.1_Missense_Mutation_p.R2T	p.R85T	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN		Epithelial(150;0.203)	3	567	-			79					B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	c.254G>C	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	C	33	5.209966	0.95069	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000414023;ENST00000529237;ENST00000256196;ENST00000534746;ENST00000526063;ENST00000532814;ENST00000531807;ENST00000531421	T;T;T;T;T;T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31;-1.31	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87873	0.6287	L	0.52759	1.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.88482	0.3069	10	0.87932	D	0	.	19.142	0.93449	0.0:1.0:0.0:0.0	.	85;79	B7Z5Z2;P62070	.;RRAS2_HUMAN	T	44;85;2;2;79;2;2;2;60;2	ENSP00000437547:R44T;ENSP00000441722:R85T;ENSP00000403282:R2T;ENSP00000433230:R2T;ENSP00000256196:R79T;ENSP00000437083:R2T;ENSP00000434104:R2T;ENSP00000431954:R2T;ENSP00000435453:R60T;ENSP00000432559:R2T	ENSP00000256196:R79T	R	-	2	0	RRAS2	14272945	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.489000	0.81451	2.632000	0.89209	0.491000	0.48974	AGA		0.393	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250		15	79	0	0	0	1	0	15	79				
P2RY1	5028	broad.mit.edu	37	3	152553754	152553754	+	Silent	SNP	A	A	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:152553754A>G	ENST00000305097.3	+	1	1019	c.183A>G	c.(181-183)gtA>gtG	p.V61V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	61					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACATCTTGGTATTCATCATCG	0.562																																						ENST00000305097.3																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23						c.(181-183)gtA>gtG		purinergic receptor P2Y, G-protein coupled, 1							106.0	91.0	96.0					3																	152553754		2203	4300	6503	SO:0001819	synonymous_variant	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152553754A>G	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.183A>G	3.37:g.152553754A>G							p.V61V	NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1019	+			61						Silent	SNP	ENST00000305097.3	37	c.183A>G	CCDS3169.1																																																																																				0.562	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		16	87	0	0	0	1	0	16	87				
CTNNAL1	8727	broad.mit.edu	37	9	111753007	111753007	+	Splice_Site	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr9:111753007T>C	ENST00000325551.4	-	4	724	c.638A>G	c.(637-639)aAt>aGt	p.N213S	RNA5-8SP3_ENST00000364357.1_RNA|CTNNAL1_ENST00000325580.6_Splice_Site_p.N213S|CTNNAL1_ENST00000374595.4_Splice_Site_p.N213S	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	213					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AATACATACATTTTGTCTATC	0.338																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.e4+1		catenin (cadherin-associated protein), alpha-like 1							97.0	86.0	90.0					9																	111753007		2202	4299	6501	SO:0001630	splice_region_variant	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111753007T>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.639+1A>G	9.37:g.111753007T>C						CTNNAL1_ENST00000325580.6_Splice_Site_p.N213_splice|CTNNAL1_ENST00000325551.4_Splice_Site_p.N213_splice	p.N213_splice			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	4	717	-			213					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Splice_Site	SNP	ENST00000325551.4	37	c.639_splice	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306791	0.60305	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.36340	1.26;1.26;1.26	5.99	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.82823	2.61	0.80722	D	1	D;D;D	0.76494	0.999;0.972;0.999	D;P;D	0.83275	0.996;0.891;0.996	T	0.60026	-0.7343	10	0.35671	T	0.21	-18.2384	10.2599	0.43421	0.0:0.0774:0.0:0.9226	.	213;213;213	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	S	213	ENSP00000363723:N213S;ENSP00000320434:N213S;ENSP00000323351:N213S	ENSP00000320434:N213S	N	-	2	0	CTNNAL1	110792828	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	1.092000	0.41356	0.533000	0.62120	AAT		0.338	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798	Missense_Mutation	8	29	0	0	0	1	0	8	29				
TBPL1	9519	broad.mit.edu	37	6	134305519	134305519	+	Silent	SNP	A	A	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr6:134305519A>T	ENST00000237264.4	+	5	563	c.288A>T	c.(286-288)atA>atT	p.I96I	TBPL1_ENST00000477527.1_Intron|TBPL1_ENST00000367871.1_Silent_p.I96I	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	96					acrosome assembly (GO:0001675)|DNA-templated transcription, initiation (GO:0006352)|dTTP biosynthetic process (GO:0006235)|regulation of transcription, DNA-templated (GO:0006355)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		TAAAGGTAATATTTACAGATT	0.323																																						ENST00000237264.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6						c.(286-288)atA>atT		TBP-like 1							40.0	40.0	40.0					6																	134305519		2203	4300	6503	SO:0001819	synonymous_variant	9519				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity	g.chr6:134305519A>T	AB020881	CCDS5168.1	6q22.1-q22.3	2008-05-23			ENSG00000028839	ENSG00000028839			11589	protein-coding gene	gene with protein product		605521				10082669, 10220372, 15767669	Standard	NM_001253676		Approved	TLP, STUD, TRF2, TLF	uc010kgg.3	P62380	OTTHUMG00000015609	ENST00000237264.4:c.288A>T	6.37:g.134305519A>T						TBPL1_ENST00000367871.1_Silent_p.I96I|TBPL1_ENST00000477527.1_Intron	p.I96I	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN		GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)	5	563	+	Colorectal(23;0.221)|Breast(56;0.247)		96					A8K8F5|O95753|Q9BWD5|Q9Z2Z0	Silent	SNP	ENST00000237264.4	37	c.288A>T	CCDS5168.1																																																																																				0.323	TBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042294.2			8	28	0	0	0	1	0	8	28				
PTCHD2	57540	broad.mit.edu	37	1	11580751	11580751	+	Silent	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:11580751C>T	ENST00000294484.6	+	10	2346	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	PTCHD2_ENST00000389575.3_Silent_p.F736F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	736					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGGGCTGTTCGTCTCCATCC	0.657																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(2206-2208)ttC>ttT		patched domain containing 2							45.0	47.0	46.0					1																	11580751		1957	4144	6101	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11580751C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2208C>T	1.37:g.11580751C>T						PTCHD2_ENST00000389575.3_Silent_p.F736F	p.F736F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	10	2346	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	736					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.2208C>T	CCDS41247.1																																																																																				0.657	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		7	43	0	0	0	1	0	7	43				
PAK7	57144	broad.mit.edu	37	20	9560902	9560902	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr20:9560902C>A	ENST00000378429.3	-	5	1426	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	PAK7_ENST00000353224.5_Nonsense_Mutation_p.E294*|RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000378423.1_Nonsense_Mutation_p.E294*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	294	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATCATCGGTTCCTGGAGTCCC	0.552																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(880-882)Gaa>Taa		p21 protein (Cdc42/Rac)-activated kinase 7							242.0	195.0	211.0					20																	9560902		2203	4300	6503	SO:0001587	stop_gained	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9560902C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.880G>T	20.37:g.9560902C>A	ENSP00000367686:p.Glu294*					PAK7_ENST00000353224.5_Nonsense_Mutation_p.E294*|PAK7_ENST00000378423.1_Nonsense_Mutation_p.E294*	p.E294*	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		5	1426	-			294			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Nonsense_Mutation	SNP	ENST00000378429.3	37	c.880G>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.739475	0.98935	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	.	.	.	5.6	5.6	0.85130	.	0.045054	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9969	0.97387	0.0:1.0:0.0:0.0	.	.	.	.	X	294;294;294;242	.	.	E	-	1	0	PAK7	9508902	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.473000	0.81007	2.813000	0.96785	0.637000	0.83480	GAA		0.552	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			13	165	1	0	7.93312e-07	1	8.68626e-07	13	165				
SERTAD3	29946	broad.mit.edu	37	19	40947969	40947969	+	Missense_Mutation	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:40947969T>A	ENST00000322354.3	-	2	515	c.19A>T	c.(19-21)Agg>Tgg	p.R7W	CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_Missense_Mutation_p.R7W|SERTAD3_ENST00000601217.1_5'Flank	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3	7					negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGTGTTTCCTCTTCAAGCCT	0.557																																						ENST00000322354.3																			0				kidney(1)|large_intestine(4)|lung(2)	7						c.(19-21)Agg>Tgg		SERTA domain containing 3							22.0	20.0	21.0					19																	40947969		2203	4300	6503	SO:0001583	missense	29946				negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr19:40947969T>A	AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.19A>T	19.37:g.40947969T>A	ENSP00000325414:p.Arg7Trp					SERTAD3_ENST00000392028.4_Missense_Mutation_p.R7W	p.R7W	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		2	515	-			7					B3KQB3|Q96CQ2	Missense_Mutation	SNP	ENST00000322354.3	37	c.19A>T	CCDS12558.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.343402	0.41498	.	.	ENSG00000167565	ENST00000322354;ENST00000392028	.	.	.	4.9	1.56	0.23342	.	0.000000	0.64402	D	0.000010	T	0.50222	0.1603	N	0.19112	0.55	0.38381	D	0.945136	D	0.89917	1.0	D	0.79784	0.993	T	0.54296	-0.8315	9	0.87932	D	0	.	5.0264	0.14387	0.0:0.0964:0.3711:0.5325	.	7	Q9UJW9	SRTD3_HUMAN	W	7	.	ENSP00000325414:R7W	R	-	1	2	SERTAD3	45639809	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.017000	0.40981	0.889000	0.36185	-0.291000	0.09656	AGG		0.557	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462573.1	NM_013368		5	31	0	0	0	1	0	5	31				
ASB6	140459	broad.mit.edu	37	9	132400134	132400134	+	Missense_Mutation	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr9:132400134G>C	ENST00000277458.4	-	6	1366	c.1201C>G	c.(1201-1203)Ctg>Gtg	p.L401V	ASB6_ENST00000450050.2_Missense_Mutation_p.L322V|RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	401	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CTGTCGGGCAGAGGCAGGGCT	0.617																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(1201-1203)Ctg>Gtg		ankyrin repeat and SOCS box containing 6							71.0	66.0	67.0					9																	132400134		2203	4300	6503	SO:0001583	missense	140459				intracellular signal transduction	cytoplasm		g.chr9:132400134G>C		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.1201C>G	9.37:g.132400134G>C	ENSP00000277458:p.Leu401Val					ASB6_ENST00000450050.2_Missense_Mutation_p.L322V|ASB6_ENST00000277459.4_3'UTR	p.L401V	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			6	1366	-		Ovarian(14;0.00556)	401			SOCS box.		Q5SZB7|Q9BV15	Missense_Mutation	SNP	ENST00000277458.4	37	c.1201C>G	CCDS6924.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384282	0.61845	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.69435	-0.4;-0.4	4.95	3.79	0.43588	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.66939	2.045	0.58432	D	0.999995	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.85130	0.997;0.997;0.997	T	0.76977	-0.2759	10	0.52906	T	0.07	-17.9722	10.0166	0.42018	0.128:0.0:0.872:0.0	.	322;401;401	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	V	401;322	ENSP00000277458:L401V;ENSP00000416172:L322V	ENSP00000277458:L401V	L	-	1	2	ASB6	131439955	1.000000	0.71417	0.986000	0.45419	0.932000	0.56968	4.541000	0.60670	0.963000	0.38082	0.462000	0.41574	CTG		0.617	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		8	54	0	0	0	1	0	8	54				
RNF111	54778	broad.mit.edu	37	15	59350639	59350639	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr15:59350639C>G	ENST00000557998.1	+	5	1543	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	RNF111_ENST00000559209.1_Missense_Mutation_p.S419C|RNF111_ENST00000434298.1_Missense_Mutation_p.S419C|RNF111_ENST00000348370.4_Missense_Mutation_p.S419C|RNF111_ENST00000561186.1_Missense_Mutation_p.S419C	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	419	Ser-rich.				gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCATCTACCTCTGAGCAGGCC	0.438																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1255-1257)tCt>tGt		ring finger protein 111							249.0	248.0	248.0					15																	59350639		2192	4291	6483	SO:0001583	missense	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59350639C>G	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1256C>G	15.37:g.59350639C>G	ENSP00000452732:p.Ser419Cys					RNF111_ENST00000559209.1_Missense_Mutation_p.S419C|RNF111_ENST00000557998.1_Missense_Mutation_p.S419C|RNF111_ENST00000561186.1_Missense_Mutation_p.S419C|RNF111_ENST00000434298.1_Missense_Mutation_p.S419C	p.S419C	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	5	1689	+			419			Ser-rich.		C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Missense_Mutation	SNP	ENST00000557998.1	37	c.1256C>G	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823673	0.90873	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	T;T	0.18174	2.23;2.24	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.32645	0.0836	L	0.29908	0.895	0.58432	D	0.999999	D;D;B	0.89917	1.0;0.999;0.202	D;D;B	0.69479	0.964;0.921;0.097	T	0.01652	-1.1303	10	0.87932	D	0	-20.1884	19.4247	0.94737	0.0:1.0:0.0:0.0	.	419;419;419	Q6ZNA4-3;Q6ZNA4;Q6ZNA4-2	.;RN111_HUMAN;.	C	419	ENSP00000288199:S419C;ENSP00000393641:S419C	ENSP00000288199:S419C	S	+	2	0	RNF111	57137931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.921000	0.70028	2.843000	0.97960	0.585000	0.79938	TCT		0.438	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		47	202	0	0	0	1	0	47	202				
ARPP21	10777	broad.mit.edu	37	3	35835336	35835336	+	Missense_Mutation	SNP	C	C	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:35835336C>A	ENST00000187397.4	+	20	2781	c.2325C>A	c.(2323-2325)aaC>aaA	p.N775K	ARPP21_ENST00000444190.1_Missense_Mutation_p.N756K|ARPP21_ENST00000417925.1_Missense_Mutation_p.N776K|ARPP21_ENST00000337271.5_Missense_Mutation_p.N756K|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.N776K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	775					cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCCCTCAGAACAACCTTAGGC	0.542																																						ENST00000187397.4																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						c.(2323-2325)aaC>aaA		cAMP-regulated phosphoprotein, 21kDa							155.0	135.0	142.0					3																	35835336		2203	4300	6503	SO:0001583	missense	10777					cytoplasm	nucleic acid binding	g.chr3:35835336C>A	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2325C>A	3.37:g.35835336C>A	ENSP00000187397:p.Asn775Lys					ARPP21_ENST00000417925.1_Missense_Mutation_p.N776K|ARPP21_ENST00000444190.1_Missense_Mutation_p.N756K|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Missense_Mutation_p.N776K|ARPP21_ENST00000337271.5_Missense_Mutation_p.N756K	p.N775K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN			20	2781	+			775					B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	c.2325C>A	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270486	0.59540	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	6.03	5.13	0.70059	.	0.299746	0.33670	N	0.004680	T	0.50188	0.1601	M	0.62723	1.935	0.42596	D	0.993263	P;P;B;P	0.38767	0.646;0.646;0.363;0.646	B;B;B;B	0.39027	0.167;0.288;0.053;0.167	T	0.56944	-0.7895	10	0.66056	D	0.02	-18.9373	17.4384	0.87559	0.0:0.8762:0.1238:0.0	.	776;298;775;756	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	K	776;756;756;775;776	ENSP00000414351:N776K;ENSP00000337792:N756K;ENSP00000405276:N756K;ENSP00000187397:N775K;ENSP00000412326:N776K	ENSP00000187397:N775K	N	+	3	2	ARPP21	35810340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.538000	0.53597	2.854000	0.98071	0.655000	0.94253	AAC		0.542	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399		10	58	1	0	2.80697e-09	1	3.15329e-09	10	58				
PRC1	9055	broad.mit.edu	37	15	91517833	91517833	+	Silent	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr15:91517833C>T	ENST00000361188.5	-	10	2543	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	PRC1-AS1_ENST00000554388.1_RNA|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Silent_p.E444E|Y_RNA_ENST00000363272.1_RNA|PRC1_ENST00000361919.3_Silent_p.E444E|PRC1_ENST00000442656.2_Silent_p.E403E					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GCTTGGCTCTCTCTTTCTCCA	0.463																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(1330-1332)gaG>gaA		protein regulator of cytokinesis 1							356.0	323.0	334.0					15																	91517833		2198	4298	6496	SO:0001819	synonymous_variant	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91517833C>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.1332G>A	15.37:g.91517833C>T						PRC1_ENST00000442656.2_Silent_p.E403E|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.E444E|PRC1_ENST00000361919.3_Silent_p.E444E	p.E444E			O43663	PRC1_HUMAN			10	2543	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		444			Spectrin-fold.			Silent	SNP	ENST00000361188.5	37	c.1332G>A	CCDS45352.1																																																																																				0.463	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		34	162	0	0	0	1	0	34	162				
VANGL2	57216	broad.mit.edu	37	1	160388969	160388969	+	Missense_Mutation	SNP	C	C	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:160388969C>A	ENST00000368061.2	+	4	844	c.370C>A	c.(370-372)Ctg>Atg	p.L124M		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	124					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTCACGCCTCTGGCCTTCCT	0.662																																						ENST00000368061.2																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(370-372)Ctg>Atg		VANGL planar cell polarity protein 2							55.0	55.0	55.0					1																	160388969		2203	4300	6503	SO:0001583	missense	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160388969C>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.370C>A	1.37:g.160388969C>A	ENSP00000357040:p.Leu124Met						p.L124M	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	844	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		124					D3DVE9|Q5T212	Missense_Mutation	SNP	ENST00000368061.2	37	c.370C>A	CCDS30915.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949478	0.53186	.	.	ENSG00000162738	ENST00000368061	D	0.82526	-1.62	4.93	2.9	0.33743	.	0.179609	0.37857	N	0.001907	T	0.81574	0.4851	M	0.76328	2.33	0.36316	D	0.857937	P	0.51537	0.946	P	0.57679	0.825	T	0.82575	-0.0389	10	0.72032	D	0.01	-12.0681	4.7138	0.12886	0.151:0.6174:0.1469:0.0847	.	124	Q9ULK5	VANG2_HUMAN	M	124	ENSP00000357040:L124M	ENSP00000357040:L124M	L	+	1	2	VANGL2	158655593	0.001000	0.12720	0.947000	0.38551	0.917000	0.54804	-0.110000	0.10824	1.194000	0.43101	0.563000	0.77884	CTG		0.662	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		12	44	1	0	4.3838e-07	1	4.86152e-07	12	44				
DPYSL5	56896	broad.mit.edu	37	2	27162927	27162927	+	Missense_Mutation	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:27162927C>T	ENST00000288699.6	+	9	1134	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.H326Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	326					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATCAGATCACCGGCCTTT	0.527																																						ENST00000288699.6																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(976-978)Cac>Tac		dihydropyrimidinase-like 5							159.0	146.0	150.0					2																	27162927		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27162927C>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.976C>T	2.37:g.27162927C>T	ENSP00000288699:p.His326Tyr					DPYSL5_ENST00000401478.1_Missense_Mutation_p.H326Y	p.H326Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN			9	1134	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		326					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.976C>T	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	C	33	5.253794	0.95336	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.94138	-3.36;-3.36	5.92	5.92	0.95590	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.97415	4	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.98979	1.0804	10	0.87932	D	0	-23.6594	19.0921	0.93231	0.0:1.0:0.0:0.0	.	326	Q9BPU6	DPYL5_HUMAN	Y	326	ENSP00000288699:H326Y;ENSP00000385549:H326Y	ENSP00000288699:H326Y	H	+	1	0	DPYSL5	27016431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.968000	0.56809	2.813000	0.96785	0.561000	0.74099	CAC		0.527	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		12	80	0	0	0	1	0	12	80				
GNPAT	8443	broad.mit.edu	37	1	231403629	231403629	+	Missense_Mutation	SNP	G	G	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:231403629G>T	ENST00000366647.4	+	9	1428	c.1259G>T	c.(1258-1260)gGa>gTa	p.G420V	GNPAT_ENST00000366646.3_Missense_Mutation_p.G359V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	420					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CAGGCATTTGGAGGGTTTCTC	0.428																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(1258-1260)gGa>gTa		glyceronephosphate O-acyltransferase							69.0	70.0	70.0					1																	231403629		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231403629G>T	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1259G>T	1.37:g.231403629G>T	ENSP00000355607:p.Gly420Val					GNPAT_ENST00000366646.3_Missense_Mutation_p.G359V	p.G420V	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			9	1428	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	420					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.1259G>T	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.412275	0.83340	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.71579	-0.58;-0.55;-0.51	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.983	D	0.89711	0.3912	10	0.87932	D	0	.	18.4854	0.90827	0.0:0.0:1.0:0.0	.	359;420	B4DNM9;O15228	.;GNPAT_HUMAN	V	420;359;410	ENSP00000355607:G420V;ENSP00000355606:G359V;ENSP00000411640:G410V	ENSP00000355606:G359V	G	+	2	0	GNPAT	229470252	1.000000	0.71417	0.982000	0.44146	0.892000	0.51952	9.434000	0.97515	2.354000	0.79902	0.591000	0.81541	GGA		0.428	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			8	59	1	0	1	1	1	8	59				
TMEM2	23670	broad.mit.edu	37	9	74313061	74313061	+	Missense_Mutation	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr9:74313061G>C	ENST00000377044.4	-	20	3976	c.3437C>G	c.(3436-3438)tCt>tGt	p.S1146C	TMEM2_ENST00000396272.3_Missense_Mutation_p.S139C|TMEM2_ENST00000377066.5_Missense_Mutation_p.S1083C	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1146					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)		ACATCCCTGAGATGAACAGTA	0.443																																						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.(3436-3438)tCt>tGt		transmembrane protein 2							195.0	148.0	164.0					9																	74313061		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74313061G>C		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.3437C>G	9.37:g.74313061G>C	ENSP00000366243:p.Ser1146Cys					TMEM2_ENST00000396272.3_Missense_Mutation_p.S139C|TMEM2_ENST00000377066.5_Missense_Mutation_p.S1083C	p.S1146C	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)	20	3976	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1146					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.3437C>G	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570929	0.86542	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.52526	0.66;0.66;0.66	5.8	5.8	0.92144	.	0.351548	0.34046	N	0.004309	T	0.64571	0.2610	L	0.56769	1.78	0.45995	D	0.998803	D;D	0.65815	0.991;0.995	P;P	0.60789	0.76;0.879	T	0.61657	-0.7018	10	0.46703	T	0.11	.	20.062	0.97678	0.0:0.0:1.0:0.0	.	1146;1083	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	C	1146;1083;139	ENSP00000366243:S1146C;ENSP00000366266:S1083C;ENSP00000379569:S139C	ENSP00000366243:S1146C	S	-	2	0	TMEM2	73502881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.062000	0.64326	2.730000	0.93505	0.563000	0.77884	TCT		0.443	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		18	101	0	0	0	1	0	18	101				
XIST	7503	broad.mit.edu	37	X	73071705	73071705	+	lincRNA	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chrX:73071705G>C	ENST00000429829.1	-	0	883					NR_001564.2				X inactive specific transcript (non-protein coding)																		CTTAACTGCAGAGTCATTCTC	0.463																																						ENST00000429829.1																			0																				146.0	135.0	138.0					X																	73071705		876	1991	2867			7503							g.chrX:73071705G>C	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071705G>C								NR_001564.2						0	883	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.463	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		4	68	0	0	0	1	0	4	68				
LRP1B	53353	broad.mit.edu	37	2	142567884	142567884	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:142567884C>G	ENST00000389484.3	-	2	1140	c.169G>C	c.(169-171)Gac>Cac	p.D57H	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	57	LDL-receptor class A 1. {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)		TCAGGGCAGTCAGGGTCCCCA	0.443										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.(169-171)Gac>Cac		low density lipoprotein receptor-related protein 1B							63.0	58.0	60.0					2																	142567884		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:142567884C>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.169G>C	2.37:g.142567884C>G	ENSP00000374135:p.Asp57His	TSP Lung(27;0.18)				LRP1B_ENST00000486364.1_5'UTR	p.D57H	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)	2	1140	-		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)	57			LDL-receptor class A 1.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.169G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303908	0.81136	.	.	ENSG00000168702	ENST00000389484;ENST00000434794	D;D	0.99032	-5.35;-5.35	5.62	4.74	0.60224	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99177	0.9715	M	0.88906	2.99	0.49582	D	0.999805	D;D	0.71674	0.985;0.998	P;P	0.59288	0.782;0.855	D	0.98920	1.0783	10	0.72032	D	0.01	.	14.3781	0.66892	0.0:0.9281:0.0:0.0719	.	95;57	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	H	57	ENSP00000374135:D57H;ENSP00000413239:D57H	ENSP00000374135:D57H	D	-	1	0	LRP1B	142284354	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.939000	0.75911	1.377000	0.46286	0.650000	0.86243	GAC		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	34	0	0	0	1	0	6	34				
ZNF318	24149	broad.mit.edu	37	6	43307320	43307320	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr6:43307320G>A	ENST00000361428.2	-	10	4493	c.4416C>T	c.(4414-4416)atC>atT	p.I1472I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1472	Pro-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGGAGCCAAGATAGCATTTG	0.537																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(4414-4416)atC>atT		zinc finger protein 318							59.0	55.0	56.0					6																	43307320		2203	4300	6503	SO:0001819	synonymous_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43307320G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.4416C>T	6.37:g.43307320G>A						ZNF318_ENST00000318149.3_Intron	p.I1472I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	4493	-			1472			Pro-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Silent	SNP	ENST00000361428.2	37	c.4416C>T	CCDS4895.2																																																																																				0.537	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		9	41	0	0	0	1	0	9	41				
NUFIP2	57532	broad.mit.edu	37	17	27614359	27614359	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:27614359T>C	ENST00000225388.4	-	2	711	c.653A>G	c.(652-654)tAt>tGt	p.Y218C	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	218						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGGAGTTGTATATCCGCTCTC	0.383																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(652-654)tAt>tGt		nuclear fragile X mental retardation protein interacting protein 2							157.0	156.0	156.0					17																	27614359		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27614359T>C	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.653A>G	17.37:g.27614359T>C	ENSP00000225388:p.Tyr218Cys					NUFIP2_ENST00000579665.1_Intron	p.Y218C	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	711	-			218					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.653A>G	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	T	15.24	2.773939	0.49786	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.69187	0.3083	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71663	-0.4525	9	0.87932	D	0	-10.2681	16.8222	0.85835	0.0:0.0:0.0:1.0	.	218	Q7Z417	NUFP2_HUMAN	C	218	.	ENSP00000225388:Y218C	Y	-	2	0	NUFIP2	24638485	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	7.197000	0.77814	2.371000	0.80710	0.533000	0.62120	TAT		0.383	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		17	131	0	0	0	1	0	17	131				
BCHE	590	broad.mit.edu	37	3	165548079	165548079	+	Missense_Mutation	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:165548079G>C	ENST00000264381.3	-	2	909	c.743C>G	c.(742-744)gCc>gGc	p.A248G	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	248					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TTGCAGAATGGCTCTGGTGAA	0.438																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(742-744)gCc>gGc		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						95.0	99.0	98.0					3																	165548079		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548079G>C	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.743C>G	3.37:g.165548079G>C	ENSP00000264381:p.Ala248Gly					BCHE_ENST00000540653.1_Intron	p.A248G	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			2	909	-			248					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.743C>G	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641751	0.47153	.	.	ENSG00000114200	ENST00000264381	D	0.96365	-3.99	5.62	4.75	0.60458	Carboxylesterase, type B (1);	0.049682	0.85682	D	0.000000	D	0.96990	0.9017	M	0.69523	2.12	0.80722	D	1	P	0.49090	0.919	P	0.55667	0.781	D	0.96961	0.9701	10	0.62326	D	0.03	.	13.5325	0.61629	0.0748:0.0:0.9252:0.0	.	248	P06276	CHLE_HUMAN	G	248	ENSP00000264381:A248G	ENSP00000264381:A248G	A	-	2	0	BCHE	167030773	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.483000	0.81158	1.386000	0.46466	0.655000	0.94253	GCC		0.438	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			14	61	0	0	0	1	0	14	61				
RXFP1	59350	broad.mit.edu	37	4	159554629	159554629	+	Splice_Site	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr4:159554629G>C	ENST00000307765.5	+	12	1222		c.e12+1		RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000460056.2_Splice_Site|RXFP1_ENST00000448688.2_Splice_Site|RXFP1_ENST00000470033.1_Splice_Site	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGTCACAATTGTAAGACTGAT	0.294																																						ENST00000307765.5																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.e12+1		relaxin/insulin-like family peptide receptor 1							86.0	82.0	83.0					4																	159554629		1793	4072	5865	SO:0001630	splice_region_variant	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159554629G>C	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.971+1G>C	4.37:g.159554629G>C						RXFP1_ENST00000470033.1_Splice_Site|RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000448688.2_Splice_Site|RXFP1_ENST00000460056.2_Splice_Site		NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	12	1222	+	all_hematologic(180;0.24)	Renal(120;0.0854)						B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Splice_Site	SNP	ENST00000307765.5	37		CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237346	0.58886	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000470033;ENST00000440678	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0151	0.80430	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RXFP1	159774079	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	5.195000	0.65131	2.302000	0.77476	0.491000	0.48974	.		0.294	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634	Intron	9	54	0	0	0	1	0	9	54				
RECQL	5965	broad.mit.edu	37	12	21626537	21626537	+	Silent	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr12:21626537T>A	ENST00000444129.2	-	12	1863	c.1395A>T	c.(1393-1395)gtA>gtT	p.V465V	RECQL_ENST00000421138.2_Silent_p.V465V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	465					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGAGTTCCATACTTCATCAA	0.323								Other identified genes with known or suspected DNA repair function																														ENST00000444129.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1393-1395)gtA>gtT	Other identified genes with known or suspected DNA repair function	RecQ protein-like (DNA helicase Q1-like)							137.0	111.0	120.0					12																	21626537		2202	4299	6501	SO:0001819	synonymous_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21626537T>A	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1395A>T	12.37:g.21626537T>A						RECQL_ENST00000421138.2_Silent_p.V465V	p.V465V	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN			12	1863	-			465					A8K6G2	Silent	SNP	ENST00000444129.2	37	c.1395A>T	CCDS31756.1																																																																																				0.323	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		10	37	0	0	0	1	0	10	37				
ZNF622	90441	broad.mit.edu	37	5	16465736	16465736	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr5:16465736G>A	ENST00000308683.2	-	1	165	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	13					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCGCGTCGCGGAACGCCACCC	0.642																																						ENST00000308683.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(37-39)ttC>ttT		zinc finger protein 622							34.0	37.0	36.0					5																	16465736		2202	4298	6500	SO:0001819	synonymous_variant	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16465736G>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.39C>T	5.37:g.16465736G>A							p.F13F	NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN			1	165	-			13						Silent	SNP	ENST00000308683.2	37	c.39C>T	CCDS3886.1																																																																																				0.642	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		13	108	0	0	0	1	0	13	108				
NLRP10	338322	broad.mit.edu	37	11	7982292	7982292	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:7982292G>A	ENST00000328600.2	-	2	1028	c.867C>T	c.(865-867)ctC>ctT	p.L289L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	289	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				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)		GGGTGGTGATGAGAAGGGAGC	0.542																																						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.(865-867)ctC>ctT		NLR family, pyrin domain containing 10							102.0	103.0	103.0					11																	7982292		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982292G>A	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.867C>T	11.37:g.7982292G>A							p.L289L	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	1028	-			289			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.867C>T	CCDS7784.1																																																																																				0.542	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		27	114	0	0	0	1	0	27	114				
BAZ2A	11176	broad.mit.edu	37	12	57000035	57000035	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr12:57000035G>A	ENST00000551812.1	-	12	2454	c.2261C>T	c.(2260-2262)tCc>tTc	p.S754F	BAZ2A_ENST00000379441.3_Missense_Mutation_p.S724F|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S752F|BAZ2A_ENST00000179765.5_Missense_Mutation_p.S722F	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	754	Lys-rich.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						ACCTACCTTGGATTTCTTCTT	0.393																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(2164-2166)tCc>tTc		bromodomain adjacent to zinc finger domain, 2A							171.0	150.0	156.0					12																	57000035		1884	4124	6008	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57000035G>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.2261C>T	12.37:g.57000035G>A	ENSP00000446880:p.Ser754Phe					BAZ2A_ENST00000549884.1_Missense_Mutation_p.S752F|BAZ2A_ENST00000379441.3_Missense_Mutation_p.S724F|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S754F	p.S722F			Q9UIF9	BAZ2A_HUMAN			13	2364	-			754			Lys-rich.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.2165C>T	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.554990|2.554990	0.45487|0.45487	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000547650|ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.|T;T;T;T	.|0.30714	.|1.52;1.52;3.05;3.05	4.7|4.7	3.75|3.75	0.43078|0.43078	.|.	.|0.422408	.|0.23758	.|N	.|0.044859	T|T	0.14960|0.14960	0.0361|0.0361	N|N	0.08118|0.08118	0|0	0.21416|0.21416	N|N	0.999691|0.999691	.|B;B	.|0.06786	.|0.001;0.001	.|B;B	.|0.08055	.|0.003;0.001	T|T	0.14090|0.14090	-1.0485|-1.0485	5|10	.|0.49607	.|T	.|0.09	.|.	7.6153|7.6153	0.28154|0.28154	0.1393:0.0:0.8607:0.0|0.1393:0.0:0.8607:0.0	.|.	.|752;754	.|F8VU39;Q9UIF9	.|.;BAZ2A_HUMAN	S|F	180|724;722;754;752	.|ENSP00000368754:S724F;ENSP00000179765:S722F;ENSP00000446880:S754F;ENSP00000447941:S752F	.|ENSP00000179765:S722F	P|S	-|-	1|2	0|0	BAZ2A|BAZ2A	55286302|55286302	0.843000|0.843000	0.29541|0.29541	0.992000|0.992000	0.48379|0.48379	0.993000|0.993000	0.82548|0.82548	2.814000|2.814000	0.48010|0.48010	1.185000|1.185000	0.42971|0.42971	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.393	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		11	35	0	0	0	1	0	11	35				
ZNF724P	440519	broad.mit.edu	37	19	23405636	23405636	+	Missense_Mutation	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:23405636T>A	ENST00000418100.1	-	4	1528	c.1411A>T	c.(1411-1413)Att>Ttt	p.I471F				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	471					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(1)|lung(2)|ovary(2)	8						CCAGTATGAATTATCCTATGT	0.363																																						ENST00000418100.1																			0				endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						c.(1411-1413)Att>Ttt																																						SO:0001583	missense	440519							g.chr19:23405636T>A			19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1411A>T	19.37:g.23405636T>A	ENSP00000413411:p.Ile471Phe						p.I471F							4	1528	-									Missense_Mutation	SNP	ENST00000418100.1	37	c.1411A>T		.	.	.	.	.	.	.	.	.	.	T	6.938	0.542896	0.13250	.	.	ENSG00000196081	ENST00000418100	T	0.07800	3.16	1.08	1.08	0.20341	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07052	0.0179	.	.	.	0.36091	D	0.843458	D	0.56746	0.977	B	0.42692	0.395	T	0.41822	-0.9487	8	0.72032	D	0.01	.	1.4704	0.02414	0.315:0.2279:0.0:0.4571	.	471	A8MTY0	ZN724_HUMAN	F	471	ENSP00000413411:I471F	ENSP00000413411:I471F	I	-	1	0	ZNF724P	23197476	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.153000	0.10144	0.407000	0.25591	0.397000	0.26171	ATT		0.363	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000465743.1			16	52	0	0	0	1	0	16	52				
CEP250	11190	broad.mit.edu	37	20	34097827	34097827	+	Splice_Site	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr20:34097827G>A	ENST00000397527.1	+	34	7729	c.7009G>A	c.(7009-7011)Gat>Aat	p.D2337N	CEP250_ENST00000342580.4_Splice_Site_p.D2281N	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2337					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCTTCCTTAGGATGGGAGAGG	0.498																																						ENST00000397527.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.e34-1		centrosomal protein 250kDa							250.0	205.0	220.0					20																	34097827		2203	4300	6503	SO:0001630	splice_region_variant	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34097827G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.7009-1G>A	20.37:g.34097827G>A						CEP250_ENST00000342580.4_Splice_Site_p.D2281_splice	p.D2337_splice	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		34	7729	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		2337					E1P5Q3|O14812|O60588|Q9H450	Splice_Site	SNP	ENST00000397527.1	37	c.7008_splice	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517453	0.27123	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.11169	2.81;2.8	5.01	1.61	0.23674	.	0.478827	0.19335	N	0.116807	T	0.11281	0.0275	M	0.73962	2.25	0.28729	N	0.902627	B	0.10296	0.003	B	0.09377	0.004	T	0.13202	-1.0518	9	.	.	.	.	4.0854	0.09945	0.2284:0.1901:0.5814:0.0	.	2337	Q9BV73	CP250_HUMAN	N	2337;2281	ENSP00000380661:D2337N;ENSP00000341541:D2281N	.	D	+	1	0	CEP250	33561241	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	0.679000	0.25291	0.714000	0.32081	0.655000	0.94253	GAT		0.498	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186	Missense_Mutation	12	69	0	0	0	1	0	12	69				
WWOX	51741	broad.mit.edu	37	16	79245622	79245622	+	Missense_Mutation	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr16:79245622G>C	ENST00000566780.1	+	9	1540	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	RP11-679B19.2_ENST00000569677.1_lincRNA|WWOX_ENST00000539474.2_Missense_Mutation_p.K201N|WWOX_ENST00000402655.2_Missense_Mutation_p.R176T|WWOX_ENST00000406884.2_Missense_Mutation_p.E212Q	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	392	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TCAGAGCGAAGAGACGGCCCG	0.617																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(1174-1176)Gag>Cag		WW domain containing oxidoreductase							55.0	59.0	58.0					16																	79245622		2007	4172	6179	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:79245622G>C	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1174G>C	16.37:g.79245622G>C	ENSP00000457230:p.Glu392Gln					WWOX_ENST00000402655.2_Missense_Mutation_p.R176T|WWOX_ENST00000539474.2_Missense_Mutation_p.K201N|WWOX_ENST00000406884.2_Missense_Mutation_p.E212Q	p.E392Q	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	9	1540	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	392			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.1174G>C	CCDS42196.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	7.025|7.025|7.025	0.559554|0.559554|0.559554	0.13436|0.13436|0.13436	.|.|.	.|.|.	ENSG00000186153|ENSG00000186153|ENSG00000186153	ENST00000408984;ENST00000406884|ENST00000539474|ENST00000402655;ENST00000299644	T|T|T	0.64438|0.38240|0.39229	-0.1|1.15|1.09	5.67|5.67|5.67	4.71|4.71|4.71	0.59529|0.59529|0.59529	NAD(P)-binding domain (1);|.|.	4.163590|.|.	0.00424|.|.	N|.|.	0.000073|.|.	T|T|T	0.34483|0.34483|0.34483	0.0899|0.0899|0.0899	L|L|L	0.42744|0.42744|0.42744	1.35|1.35|1.35	0.35922|0.35922|0.35922	D|D|D	0.831923|0.831923|0.831923	B;B|.|B	0.21905|.|0.25904	0.062;0.003|.|0.137	B;B|.|B	0.19946|.|0.25140	0.027;0.002|.|0.058	T|T|T	0.44817|0.44817|0.44817	-0.9303|-0.9303|-0.9303	10|7|9	0.46703|0.17832|0.72032	T|T|D	0.11|0.49|0.01	.|.|.	8.5898|8.5898|8.5898	0.33679|0.33679|0.33679	0.1313:0.1351:0.7336:0.0|0.1313:0.1351:0.7336:0.0|0.1313:0.1351:0.7336:0.0	.|.|.	212;392|.|176	Q9NZC7-5;Q9NZC7|.|Q9NZC7-6	.;WWOX_HUMAN|.|.	Q|N|T	392;212|201|176;233	ENSP00000384495:E212Q|ENSP00000445210:K201N|ENSP00000384238:R176T	ENSP00000384495:E212Q|ENSP00000445210:K201N|ENSP00000299644:R233T	E|K|R	+|+|+	1|3|2	0|2|0	WWOX|WWOX|WWOX	77803123|77803123|77803123	0.405000|0.405000|0.405000	0.25336|0.25336|0.25336	0.672000|0.672000|0.672000	0.29872|0.29872|0.29872	0.423000|0.423000|0.423000	0.31445|0.31445|0.31445	1.874000|1.874000|1.874000	0.39568|0.39568|0.39568	2.667000|2.667000|2.667000	0.90743|0.90743|0.90743	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAG|AAG|AGA		0.617	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			10	73	0	0	0	1	0	10	73				
KL	9365	broad.mit.edu	37	13	33629222	33629222	+	Missense_Mutation	SNP	G	G	A	rs143526946		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr13:33629222G>A	ENST00000380099.3	+	3	1377	c.1369G>A	c.(1369-1371)Gca>Aca	p.A457T	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.A150T	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	457	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGGGTATACCGCATGGTCCCT	0.527																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1369-1371)Gca>Aca		klotho		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	164.0	132.0	143.0		1369	6.0	0.0	13	dbSNP_134	143	0,8600		0,0,4300	no	missense	KL	NM_004795.3	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	457/1013	33629222	1,13005	2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33629222G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1369G>A	13.37:g.33629222G>A	ENSP00000369442:p.Ala457Thr					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.A150T	p.A457T	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	3	1377	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	457			Glycosyl hydrolase-1 1.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1369G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907279	0.92107	2.27E-4	0.0	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.35789	1.29;1.29	6.03	6.03	0.97812	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.154238	0.56097	D	0.000028	T	0.51873	0.1700	L	0.58510	1.815	0.80722	D	1	D;D	0.60160	0.987;0.963	P;P	0.53593	0.73;0.508	T	0.43196	-0.9406	10	0.49607	T	0.09	-11.1484	20.5568	0.99304	0.0:0.0:1.0:0.0	.	457;150	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	T	150;457	ENSP00000399513:A150T;ENSP00000369442:A457T	ENSP00000369442:A457T	A	+	1	0	KL	32527222	1.000000	0.71417	0.043000	0.18650	0.655000	0.38815	9.756000	0.98918	2.861000	0.98227	0.655000	0.94253	GCA		0.527	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			4	101	0	0	0	1	0	4	101				
OR10X1	128367	broad.mit.edu	37	1	158549000	158549000	+	Silent	SNP	G	G	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:158549000G>T	ENST00000368150.1	-	1	689	c.690C>A	c.(688-690)atC>atA	p.I230I		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CAGTCAGGATGATGAGCAGAA	0.488																																						ENST00000368150.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(688-690)atC>atA		olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)							117.0	113.0	114.0					1																	158549000		2203	4300	6503	SO:0001819	synonymous_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549000G>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.690C>A	1.37:g.158549000G>T							p.I230I	NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN			1	689	-	all_hematologic(112;0.0378)		230					Q6IFR8	Silent	SNP	ENST00000368150.1	37	c.690C>A	CCDS30900.1																																																																																				0.488	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		15	48	1	0	0.000219431	1	0.000232893	15	48				
CPSF1	29894	broad.mit.edu	37	8	145623977	145623977	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr8:145623977C>G	ENST00000349769.3	-	18	1784	c.1690G>C	c.(1690-1692)Gaa>Caa	p.E564Q	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	564					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TCGTCTGCTTCAGGGGTGGTG	0.657																																					NSCLC(133;1088 1848 27708 34777 35269)	ENST00000349769.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1690-1692)Gaa>Caa		cleavage and polyadenylation specific factor 1, 160kDa							101.0	100.0	100.0					8																	145623977		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623977C>G	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1690G>C	8.37:g.145623977C>G	ENSP00000339353:p.Glu564Gln						p.E564Q	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		18	1784	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		564					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1690G>C	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	7.394	0.631317	0.14322	.	.	ENSG00000071894	ENST00000349769	T	0.46063	0.88	5.84	4.95	0.65309	.	0.274143	0.33040	N	0.005349	T	0.29945	0.0749	L	0.29908	0.895	0.18873	N	0.999981	B	0.18610	0.029	B	0.21546	0.035	T	0.17228	-1.0376	10	0.14656	T	0.56	-11.3968	11.8551	0.52433	0.0:0.9137:0.0:0.0863	.	564	Q10570	CPSF1_HUMAN	Q	564	ENSP00000339353:E564Q	ENSP00000339353:E564Q	E	-	1	0	CPSF1	145594785	0.961000	0.32948	0.031000	0.17742	0.010000	0.07245	2.582000	0.46085	1.442000	0.47568	0.655000	0.94253	GAA		0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		30	169	0	0	0	1	0	30	169				
WTAP	9589	broad.mit.edu	37	6	160176488	160176488	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr6:160176488G>A	ENST00000358372.4	+	8	2793	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	346					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CACGGGCAGTGAAAACTCTCT	0.507																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(1036-1038)Gaa>Aaa		Wilms tumor 1 associated protein							100.0	98.0	99.0					6																	160176488		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176488G>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.1036G>A	6.37:g.160176488G>A	ENSP00000351141:p.Glu346Lys					SOD2_ENST00000546087.1_Intron	p.E346K	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	2793	+		Breast(66;0.000776)|Ovarian(120;0.0303)	346					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.1036G>A	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038986	0.93630	.	.	ENSG00000146457	ENST00000358372	T	0.54675	0.56	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.29908	0.895	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.80764	0.994;0.987	T	0.49123	-0.8972	10	0.33141	T	0.24	-5.0646	20.3931	0.98965	0.0:0.0:1.0:0.0	.	346;346	A8K489;Q15007	.;FL2D_HUMAN	K	346	ENSP00000351141:E346K	ENSP00000351141:E346K	E	+	1	0	WTAP	160096478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.824000	0.97209	0.655000	0.94253	GAA		0.507	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		14	86	0	0	0	1	0	14	86				
TMEM87A	25963	broad.mit.edu	37	15	42564296	42564296	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr15:42564296T>C	ENST00000389834.4	-	2	434	c.170A>G	c.(169-171)aAg>aGg	p.K57R	GANC_ENST00000318010.8_5'Flank|GANC_ENST00000566442.1_5'Flank|TMEM87A_ENST00000568432.1_5'UTR|GANC_ENST00000440615.2_5'Flank|TMEM87A_ENST00000307216.6_Missense_Mutation_p.K57R|TMEM87A_ENST00000448392.1_Intron	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	57						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GAAGAGGATCTTTCCAAAACT	0.284																																						ENST00000389834.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(169-171)aAg>aGg		transmembrane protein 87A							39.0	40.0	40.0					15																	42564296		2201	4295	6496	SO:0001583	missense	25963					integral to membrane		g.chr15:42564296T>C	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.170A>G	15.37:g.42564296T>C	ENSP00000374484:p.Lys57Arg					TMEM87A_ENST00000307216.6_Missense_Mutation_p.K57R|TMEM87A_ENST00000568432.1_5'UTR|TMEM87A_ENST00000448392.1_Intron	p.K57R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	2	434	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	57					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	c.170A>G	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260562	0.80246	.	.	ENSG00000103978	ENST00000389834;ENST00000535305;ENST00000307216	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.991	T	0.67894	-0.5552	9	0.87932	D	0	-15.2743	11.4837	0.50342	0.0:0.0:0.0:1.0	.	57;57	Q8NBN3;Q8NBN3-2	TM87A_HUMAN;.	R	57;33;57	.	ENSP00000305894:K57R	K	-	2	0	TMEM87A	40351588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.028000	0.57246	2.204000	0.70986	0.528000	0.53228	AAG		0.284	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		8	52	0	0	0	1	0	8	52				
MRPL4	51073	broad.mit.edu	37	19	10368995	10368995	+	Missense_Mutation	SNP	G	G	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:10368995G>T	ENST00000253099.6	+	6	830	c.543G>T	c.(541-543)aaG>aaT	p.K181N	MRPL4_ENST00000588502.1_Missense_Mutation_p.K180N|MRPL4_ENST00000307422.5_Missense_Mutation_p.K181N|CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000393733.2_Missense_Mutation_p.K181N|MRPL4_ENST00000590669.1_Missense_Mutation_p.K181N|CTD-2369P2.5_ENST00000592893.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	181					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TGACCGTCAAGCTGGCCCAGG	0.632																																						ENST00000393733.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(541-543)aaG>aaT		mitochondrial ribosomal protein L4							49.0	51.0	51.0					19																	10368995		2203	4300	6503	SO:0001583	missense	51073				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr19:10368995G>T	AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.543G>T	19.37:g.10368995G>T	ENSP00000253099:p.Lys181Asn					MRPL4_ENST00000307422.5_Missense_Mutation_p.K181N|MRPL4_ENST00000253099.6_Missense_Mutation_p.K181N|MRPL4_ENST00000590669.1_Missense_Mutation_p.K181N|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000588502.1_Missense_Mutation_p.K180N	p.K181N			Q9BYD3	RM04_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)	6	570	+		Renal(1328;0.0112)	181					A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Missense_Mutation	SNP	ENST00000253099.6	37	c.543G>T	CCDS12230.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061200	0.55432	.	.	ENSG00000105364	ENST00000253099;ENST00000307422;ENST00000393733	.	.	.	5.32	5.32	0.75619	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.89724	0.3921	9	0.87932	D	0	-35.9706	10.0091	0.41975	0.0925:0.0:0.9075:0.0	.	181;181	Q9BYD3-2;Q9BYD3	.;RM04_HUMAN	N	181	.	ENSP00000253099:K181N	K	+	3	2	MRPL4	10229995	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	2.303000	0.43646	2.471000	0.83476	0.462000	0.41574	AAG		0.632	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451197.1			11	54	1	0	5.50884e-06	1	5.99389e-06	11	54				
TP53	7157	broad.mit.edu	37	17	7574000	7574000	+	Nonsense_Mutation	SNP	C	C	A	rs375573770		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:7574000C>A	ENST00000269305.4	-	10	1216	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E343*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron	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	343	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> G (in sporadic cancers; somatic mutation).		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.E343*(8)|p.0?(8)|p.R342_N345delRELN(1)|p.I332fs*5(1)|p.?(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)	TCATTCAGCTCTCGGAACATC	0.567		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)	ENST00000269305.4		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"""		19	Substitution - Nonsense(8)|Whole gene deletion(8)|Unknown(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.E343*(8)|p.0?(8)|p.R342_N345delRELN(1)|p.I332fs*5(1)|p.?(1)	bone(4)|lung(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|biliary_tract(2)|oesophagus(2)|stomach(1)|breast(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.(1027-1029)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							63.0	49.0	54.0					17																	7574000		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7574000C>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.1027G>T	17.37:g.7574000C>A	ENSP00000269305:p.Glu343*	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_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E343*	p.E343*	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1216	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	343		E -> G (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1027G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416742	0.96092	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	0.0488	0.14286	.	0.424710	0.26746	N	0.022702	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3598	8.103	0.30868	0.0:0.4892:0.0:0.5108	.	.	.	.	X	343;343;332	.	ENSP00000269305:E343X	E	-	1	0	TP53	7514725	0.924000	0.31332	0.029000	0.17559	0.870000	0.49936	2.211000	0.42825	0.026000	0.15269	-0.291000	0.09656	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	39	1	0	7.48243e-07	1	8.24497e-07	8	39				
ARSJ	79642	broad.mit.edu	37	4	114824718	114824718	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr4:114824718G>A	ENST00000315366.7	-	2	1378	c.512C>T	c.(511-513)aCg>aTg	p.T171M	ARSJ_ENST00000541197.1_Missense_Mutation_p.T171M	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	171					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		GACCATATGCGTTGAATATCC	0.448																																						ENST00000315366.7																			0				endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21						c.(511-513)aCg>aTg		arylsulfatase family, member J							218.0	195.0	203.0					4																	114824718		1881	4121	6002	SO:0001583	missense	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114824718G>A		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.512C>T	4.37:g.114824718G>A	ENSP00000320219:p.Thr171Met					ARSJ_ENST00000541197.1_Missense_Mutation_p.T171M	p.T171M	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	1378	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	171					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Missense_Mutation	SNP	ENST00000315366.7	37	c.512C>T	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.217541	0.79352	.	.	ENSG00000180801	ENST00000315366;ENST00000541197	D;D	0.98296	-4.85;-4.85	5.51	5.51	0.81932	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.99415	4.555	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.97705	1.0187	10	0.87932	D	0	.	19.427	0.94746	0.0:0.0:1.0:0.0	.	171;171	Q1HA39;Q5FYB0	.;ARSJ_HUMAN	M	171	ENSP00000320219:T171M;ENSP00000438836:T171M	ENSP00000320219:T171M	T	-	2	0	ARSJ	115044167	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.742000	0.98846	2.573000	0.86826	0.655000	0.94253	ACG		0.448	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		23	120	0	0	0	1	0	23	120				
NRP1	8829	broad.mit.edu	37	10	33495214	33495214	+	Intron	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr10:33495214C>T	ENST00000265371.4	-	11	2285				NRP1_ENST00000374823.5_Intron|NRP1_ENST00000395995.1_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000374867.2_Intron|NRP1_ENST00000374816.3_Silent_p.K609K|NRP1_ENST00000374875.1_Intron|NRP1_ENST00000374821.5_Intron			O14786	NRP1_HUMAN	neuropilin 1						angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTGCCCATCTCTTCTTTTTCT	0.483																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000374816.3																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(1825-1827)aaG>aaA		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						68.0	61.0	63.0					10																	33495214		876	1991	2867	SO:0001627	intron_variant	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33495214C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1759+1285G>A	10.37:g.33495214C>T						NRP1_ENST00000395995.1_Intron|NRP1_ENST00000374823.5_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000374867.2_Intron|NRP1_ENST00000265371.4_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000466932.1_Intron	p.K609K			O14786	NRP1_HUMAN			11	1966	-			0					B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	ENST00000265371.4	37	c.1827G>A	CCDS7177.1																																																																																				0.483	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			11	43	0	0	0	1	0	11	43				
LY6D	8581	broad.mit.edu	37	8	143867012	143867012	+	Silent	SNP	C	C	A	rs562216603		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr8:143867012C>A	ENST00000301263.4	-	2	219	c.144G>T	c.(142-144)acG>acT	p.T48T	RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	48	UPAR/Ly6.				cell adhesion (GO:0007155)|lymphocyte differentiation (GO:0030098)|response to stilbenoid (GO:0035634)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|membrane (GO:0016020)|plasma membrane (GO:0005886)				large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACCTGTGTTCGTGGTCTTGC	0.647																																						ENST00000301263.4																			0				large_intestine(1)|lung(3)|prostate(1)	5						c.(142-144)acG>acT		lymphocyte antigen 6 complex, locus D							75.0	73.0	74.0					8																	143867012		2203	4300	6503	SO:0001819	synonymous_variant	8581				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding	g.chr8:143867012C>A	U66837	CCDS6390.1	8q24	2004-07-06			ENSG00000167656	ENSG00000167656			13348	protein-coding gene	gene with protein product		606204				7790363, 9551972	Standard	NM_003695		Approved	E48	uc003yxf.1	Q14210	OTTHUMG00000164693	ENST00000301263.4:c.144G>T	8.37:g.143867012C>A						RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	p.T48T	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN			2	219	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		48			UPAR/Ly6.		B2R5F1|D3DWJ0|O43783|Q6GTV9|Q8TBD4|Q92933	Silent	SNP	ENST00000301263.4	37	c.144G>T	CCDS6390.1																																																																																				0.647	LY6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379774.1	NM_003695		13	81	1	0	0.000151284	1	0.00016256	13	81				
PRTG	283659	broad.mit.edu	37	15	56032808	56032808	+	Missense_Mutation	SNP	C	C	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr15:56032808C>A	ENST00000561292.1	-	2	327	c.169G>T	c.(169-171)Gtt>Ttt	p.V57F	PRTG_ENST00000389286.4_Missense_Mutation_p.V57F					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)		CAATCTAAAACGACTGGGTCC	0.408																																						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.(169-171)Gtt>Ttt		protogenin							106.0	101.0	103.0					15																	56032808		1837	4086	5923	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:56032808C>A	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		ENST00000561292.1:c.169G>T	15.37:g.56032808C>A	ENSP00000453335:p.Val57Phe					PRTG_ENST00000561292.1_Missense_Mutation_p.V57F	p.V57F	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	2	216	-			57			Ig-like 1.			Missense_Mutation	SNP	ENST00000561292.1	37	c.169G>T		.	.	.	.	.	.	.	.	.	.	C	12.58	1.979522	0.34942	.	.	ENSG00000166450	ENST00000389286	T	0.66995	-0.24	5.82	-7.42	0.01388	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.486738	0.17967	N	0.155972	T	0.47451	0.1446	L	0.52364	1.645	0.32279	N	0.56785	B	0.16603	0.018	B	0.22880	0.042	T	0.10800	-1.0614	10	0.42905	T	0.14	-0.107	2.3199	0.04207	0.1626:0.3385:0.0908:0.4081	.	57	Q2VWP7	PRTG_HUMAN	F	57	ENSP00000373937:V57F	ENSP00000373937:V57F	V	-	1	0	PRTG	53820100	0.000000	0.05858	0.017000	0.16124	0.996000	0.88848	-1.381000	0.02549	-2.107000	0.00840	-0.140000	0.14226	GTT		0.408	PRTG-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000419360.1	NM_173814		11	94	1	0	9.70103e-10	1	1.09691e-09	11	94				
PLEKHG4	25894	broad.mit.edu	37	16	67316154	67316154	+	Silent	SNP	A	A	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr16:67316154A>G	ENST00000360461.5	+	8	3690	c.1155A>G	c.(1153-1155)ctA>ctG	p.L385L	PLEKHG4_ENST00000450733.1_Silent_p.L304L|PLEKHG4_ENST00000427155.2_Silent_p.L385L|PLEKHG4_ENST00000379344.3_Silent_p.L385L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	385							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		AGCAGGTGCTAGACTCGCCAT	0.602																																						ENST00000360461.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1153-1155)ctA>ctG		pleckstrin homology domain containing, family G (with RhoGef domain) member 4							41.0	44.0	43.0					16																	67316154		2198	4300	6498	SO:0001819	synonymous_variant	25894				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr16:67316154A>G	AK024475	CCDS32466.1, CCDS45512.1	16q22.1	2013-01-11						"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24501	protein-coding gene	gene with protein product	"""puratrophin-1"""	609526	"""spinocerebellar ataxia 4"""	SCA4		16491300, 16001362	Standard	NM_015432		Approved	DKFZP434I216, ARHGEF44	uc010cef.3	Q58EX7		ENST00000360461.5:c.1155A>G	16.37:g.67316154A>G						PLEKHG4_ENST00000379344.3_Silent_p.L385L|PLEKHG4_ENST00000427155.2_Silent_p.L385L|PLEKHG4_ENST00000450733.1_Silent_p.L304L	p.L385L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)	8	3690	+			385					Q4G0J8|Q4H485|Q56A69|Q9H7K4|Q9UFW0	Silent	SNP	ENST00000360461.5	37	c.1155A>G	CCDS32466.1																																																																																				0.602	PLEKHG4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421395.2	NM_015432		7	52	0	0	0	1	0	7	52				
HAPLN3	145864	broad.mit.edu	37	15	89421324	89421324	+	Silent	SNP	G	G	A	rs201017497		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr15:89421324G>A	ENST00000359595.3	-	5	1174	c.960C>T	c.(958-960)agC>agT	p.S320S	HAPLN3_ENST00000562889.1_Silent_p.S382S	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	320	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GGTAGCGGACGCTACCATCTG	0.642																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(958-960)agC>agT		hyaluronan and proteoglycan link protein 3		G		0,4400		0,0,2200	92.0	91.0	92.0		960	-2.2	1.0	15		92	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	HAPLN3	NM_178232.2		0,1,6498	AA,AG,GG		0.0116,0.0,0.0077		320/361	89421324	1,12997	2200	4299	6499	SO:0001819	synonymous_variant	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89421324G>A	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.960C>T	15.37:g.89421324G>A						HAPLN3_ENST00000562889.1_Silent_p.S382S	p.S320S	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			5	1174	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		320			Link 2.		A8K7P0	Silent	SNP	ENST00000359595.3	37	c.960C>T	CCDS10346.1																																																																																				0.642	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		28	109	0	0	0	1	0	28	109				
TSLP	85480	broad.mit.edu	37	5	110409267	110409267	+	Missense_Mutation	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr5:110409267C>T	ENST00000344895.3	+	3	474	c.275C>T	c.(274-276)tCg>tTg	p.S92L	TSLP_ENST00000420978.2_Missense_Mutation_p.S92L|TSLP_ENST00000379706.4_5'UTR	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	92						extracellular space (GO:0005615)				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GGCTGCGCGTCGCTCGCCAAA	0.517																																						ENST00000420978.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						c.(274-276)tCg>tTg		thymic stromal lymphopoietin							144.0	152.0	150.0					5																	110409267		2202	4300	6502	SO:0001583	missense	85480					extracellular space	cytokine activity	g.chr5:110409267C>T	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.275C>T	5.37:g.110409267C>T	ENSP00000339804:p.Ser92Leu					TSLP_ENST00000344895.3_Missense_Mutation_p.S92L|TSLP_ENST00000379706.4_5'UTR	p.S92L			Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	4	1697	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	92					Q8IW99	Missense_Mutation	SNP	ENST00000344895.3	37	c.275C>T	CCDS4101.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227286	0.58668	.	.	ENSG00000145777	ENST00000420978;ENST00000344895	.	.	.	4.93	4.93	0.64822	.	0.411149	0.18076	N	0.152457	T	0.49830	0.1580	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.49085	0.6	T	0.53669	-0.8406	9	0.72032	D	0.01	-3.3561	14.387	0.66953	0.0:1.0:0.0:0.0	.	92	Q969D9	TSLP_HUMAN	L	92	.	ENSP00000339804:S92L	S	+	2	0	TSLP	110437166	0.007000	0.16637	0.006000	0.13384	0.017000	0.09413	1.774000	0.38573	2.671000	0.90904	0.655000	0.94253	TCG		0.517	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035		25	172	0	0	0	1	0	25	172				
EDDM3A	10876	broad.mit.edu	37	14	21215972	21215972	+	Missense_Mutation	SNP	G	G	A	rs149270684	byFrequency	TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr14:21215972G>A	ENST00000326842.2	+	2	360	c.233G>A	c.(232-234)cGt>cAt	p.R78H		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	78					sperm displacement (GO:0007321)	extracellular space (GO:0005615)				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AAAATTCAGCGTGCATGCATC	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20428	0.0		0.0	False		,,,				2504	0.0					ENST00000326842.2																			0				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(232-234)cGt>cAt		epididymal protein 3A		G	HIS/ARG	8,4398	14.3+/-33.2	0,8,2195	103.0	100.0	101.0		233	-0.1	0.0	14	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	yes	missense	EDDM3A	NM_006683.4	29	0,9,6494	AA,AG,GG		0.0116,0.1816,0.0692	possibly-damaging	78/148	21215972	9,12997	2203	4300	6503	SO:0001583	missense	10876				sperm displacement	extracellular space		g.chr14:21215972G>A	X76383	CCDS9556.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181562	ENSG00000181562			16978	protein-coding gene	gene with protein product		611580	"""family with sequence similarity 12, member A"""	FAM12A		7514008	Standard	NM_006683		Approved	HE3-ALPHA	uc001vyc.3	Q14507	OTTHUMG00000029581	ENST00000326842.2:c.233G>A	14.37:g.21215972G>A	ENSP00000315098:p.Arg78His						p.R78H	NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN			2	360	+			78					Q4KN33	Missense_Mutation	SNP	ENST00000326842.2	37	c.233G>A	CCDS9556.1	.	.	.	.	.	.	.	.	.	.	G	2.063	-0.414838	0.04766	0.001816	1.16E-4	ENSG00000181562	ENST00000326842	T	0.73152	-0.72	2.46	-0.0476	0.13842	Ribonuclease A, domain (2);	1.533360	0.04073	N	0.308328	T	0.44307	0.1287	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.39231	-0.9624	10	0.02654	T	1	.	4.437	0.11555	0.6155:0.0:0.3845:0.0	.	78	Q14507	EP3A_HUMAN	H	78	ENSP00000315098:R78H	ENSP00000315098:R78H	R	+	2	0	EDDM3A	20285812	0.000000	0.05858	0.002000	0.10522	0.167000	0.22549	0.137000	0.15995	-0.150000	0.11195	0.313000	0.20887	CGT		0.438	EDDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073742.3			6	41	0	0	0	1	0	6	41				
IFNL3	282617	broad.mit.edu	37	19	39734290	39734290	+	Missense_Mutation	SNP	G	G	T	rs200180353		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:39734290G>T	ENST00000413851.2	-	5	611	c.573C>A	c.(571-573)agC>agA	p.S191R		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	191					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)		p.S191S(1)									ACAGGTCCCCGCTGGCAACAC	0.527																																						ENST00000413851.2																			1	Substitution - coding silent(1)	p.S191S(1)	large_intestine(1)								c.(571-573)agC>agA		interferon, lambda 3							46.0	44.0	45.0					19																	39734290		2203	4300	6503	SO:0001583	missense	282617							g.chr19:39734290G>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.573C>A	19.37:g.39734290G>T	ENSP00000409000:p.Ser191Arg						p.S191R	NM_172139.2	NP_742151.2					5	611	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.573C>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	G	4.833	0.154838	0.09236	.	.	ENSG00000197110	ENST00000413851	T	0.32753	1.44	3.95	-4.78	0.03209	.	0.692900	0.14234	N	0.332502	T	0.21674	0.0522	L	0.56124	1.755	0.09310	N	1	B	0.25048	0.117	B	0.32805	0.153	T	0.35151	-0.9800	10	0.52906	T	0.07	-0.7558	0.4914	0.00565	0.2055:0.1584:0.2758:0.3603	.	191	Q8IZI9	IL28B_HUMAN	R	191	ENSP00000409000:S191R	ENSP00000409000:S191R	S	-	3	2	IL28B	44426130	0.000000	0.05858	0.032000	0.17829	0.013000	0.08279	-3.029000	0.00638	-0.765000	0.04645	-1.021000	0.02439	AGC		0.527	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		3	16	1	0	0.115264	1	0.117298	3	16				
BARD1	580	broad.mit.edu	37	2	215610519	215610519	+	Silent	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:215610519T>C	ENST00000260947.4	-	8	1871	c.1737A>G	c.(1735-1737)tcA>tcG	p.S579S	BARD1_ENST00000449967.2_Silent_p.S435S	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	579	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTGTTGTTCTGAAGACAGCC	0.398									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(1735-1737)tcA>tcG		BRCA1 associated RING domain 1							178.0	178.0	178.0					2																	215610519		2203	4300	6503	SO:0001819	synonymous_variant	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215610519T>C		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.1737A>G	2.37:g.215610519T>C						BARD1_ENST00000449967.2_Silent_p.S435S	p.S579S	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	8	1871	-		Renal(323;0.0243)	579			BRCT 1.		F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Silent	SNP	ENST00000260947.4	37	c.1737A>G	CCDS2397.1																																																																																				0.398	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		17	127	0	0	0	1	0	17	127				
ZNF682	91120	broad.mit.edu	37	19	20116857	20116857	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:20116857T>C	ENST00000397165.2	-	4	1614	c.1454A>G	c.(1453-1455)aAa>aGa	p.K485R	ZNF682_ENST00000595736.1_Missense_Mutation_p.K409R|ZNF682_ENST00000597972.1_Missense_Mutation_p.K491R|ZNF682_ENST00000358523.5_Missense_Mutation_p.K453R|ZNF682_ENST00000397162.1_Missense_Mutation_p.K453R|ZNF682_ENST00000596019.1_Intron	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	485					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						TTCCCCACATTTTTTATACTT	0.338																																						ENST00000397165.2																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						c.(1453-1455)aAa>aGa		zinc finger protein 682							77.0	80.0	79.0					19																	20116857		1875	4128	6003	SO:0001583	missense	91120				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20116857T>C	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.1454A>G	19.37:g.20116857T>C	ENSP00000380351:p.Lys485Arg					ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Missense_Mutation_p.K491R|ZNF682_ENST00000595736.1_Missense_Mutation_p.K409R|ZNF682_ENST00000397162.1_Missense_Mutation_p.K453R|ZNF682_ENST00000358523.5_Missense_Mutation_p.K453R	p.K485R	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN			4	1614	-			485					B3KU64|E9PFJ5|Q96JV9	Missense_Mutation	SNP	ENST00000397165.2	37	c.1454A>G	CCDS42533.1	.	.	.	.	.	.	.	.	.	.	t	5.966	0.362226	0.11296	.	.	ENSG00000197124	ENST00000397165;ENST00000397162;ENST00000341262;ENST00000358523	T;T;T	0.60424	2.44;0.19;0.19	1.09	1.09	0.20402	.	.	.	.	.	T	0.45458	0.1343	L	0.52126	1.63	0.09310	N	1	P	0.39737	0.685	B	0.34873	0.191	T	0.38650	-0.9651	9	0.87932	D	0	.	5.9346	0.19158	0.0:0.0:0.0:1.0	.	485	O95780	ZN682_HUMAN	R	485;453;154;453	ENSP00000380351:K485R;ENSP00000380348:K453R;ENSP00000351324:K453R	ENSP00000340236:K154R	K	-	2	0	ZNF682	19977857	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	0.544000	0.23253	0.413000	0.25759	0.402000	0.26972	AAA		0.338	ZNF682-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462888.1	NM_033196		15	66	0	0	0	1	0	15	66				
NPHP3	27031	broad.mit.edu	37	3	132407666	132407666	+	Missense_Mutation	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:132407666C>T	ENST00000337331.5	-	21	3039	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	985					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGGACTGGGCTACTCTTGGG	0.473																																						ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2953-2955)Gcc>Acc		nephronophthisis 3 (adolescent)							122.0	114.0	117.0					3																	132407666		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132407666C>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2953G>A	3.37:g.132407666C>T	ENSP00000338766:p.Ala985Thr					NPHP3_ENST00000326682.8_3'UTR	p.A985T	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			21	3039	-			985					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.2953G>A	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	35	5.436866	0.96168	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000337331	D	0.97138	-4.26	5.43	5.43	0.79202	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.98871	0.9618	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99560	1.0968	10	0.72032	D	0.01	-17.4047	19.2342	0.93851	0.0:1.0:0.0:0.0	.	985	Q7Z494	NPHP3_HUMAN	T	265;47;985	ENSP00000338766:A985T	ENSP00000338766:A985T	A	-	1	0	NPHP3	133890356	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.629000	0.83207	2.545000	0.85829	0.491000	0.48974	GCC		0.473	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		19	114	0	0	0	1	0	19	114				
RARG	5916	broad.mit.edu	37	12	53609155	53609155	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr12:53609155T>C	ENST00000425354.2	-	5	884	c.397A>G	c.(397-399)Atc>Gtc	p.I133V	RARG_ENST00000327550.3_Missense_Mutation_p.I61V|RARG_ENST00000338561.5_Missense_Mutation_p.I122V|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.I133V|RARG_ENST00000543726.1_Missense_Mutation_p.I111V	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	133					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	TTGTTGATGATACAGTTTTTG	0.537																																						ENST00000425354.2																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(397-399)Atc>Gtc		retinoic acid receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						251.0	196.0	214.0					12																	53609155		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53609155T>C	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.397A>G	12.37:g.53609155T>C	ENSP00000388510:p.Ile133Val					RARG_ENST00000394426.1_Missense_Mutation_p.I133V|RARG_ENST00000338561.5_Missense_Mutation_p.I122V|RARG_ENST00000327550.3_Missense_Mutation_p.I61V|RARG_ENST00000543726.1_Missense_Mutation_p.I111V|RARG_ENST00000543762.1_5'UTR	p.I133V	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN			5	884	-			133					B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.397A>G	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	T	3.147	-0.175091	0.06421	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23	4.45	4.45	0.53987	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.153645	0.46442	D	0.000298	D	0.89008	0.6593	N	0.05414	-0.055	0.29467	N	0.85731	B;B;B;B	0.28713	0.033;0.22;0.013;0.0	B;B;B;B	0.26416	0.051;0.069;0.008;0.01	T	0.81331	-0.0981	10	0.05721	T	0.95	.	8.9901	0.36019	0.0:0.0:0.3108:0.6892	.	170;111;133;122	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	V	133;133;61;122;111;170	ENSP00000388510:I133V;ENSP00000377947:I133V;ENSP00000332695:I61V;ENSP00000343698:I122V;ENSP00000444335:I111V	ENSP00000332695:I61V	I	-	1	0	RARG	51895422	0.683000	0.27633	1.000000	0.80357	0.825000	0.46686	0.603000	0.24149	2.000000	0.58554	0.482000	0.46254	ATC		0.537	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2	NM_000966		18	95	0	0	0	1	0	18	95				
HIPK1	204851	broad.mit.edu	37	1	114515930	114515930	+	Silent	SNP	A	A	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:114515930A>G	ENST00000369558.1	+	16	3661	c.3429A>G	c.(3427-3429)gcA>gcG	p.A1143A	HIPK1_ENST00000340480.4_Silent_p.A769A|HIPK1_ENST00000369554.2_Silent_p.A1098A|HIPK1_ENST00000369555.2_Silent_p.A1098A|HIPK1_ENST00000369561.4_Silent_p.A1109A|HIPK1_ENST00000406344.1_Silent_p.A749A|HIPK1_ENST00000426820.2_Silent_p.A1143A|HIPK1_ENST00000369553.1_Silent_p.A749A			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	1143					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCATGCTGCAGCCTATACCA	0.577																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(3427-3429)gcA>gcG		homeodomain interacting protein kinase 1							183.0	146.0	158.0					1																	114515930		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114515930A>G	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.3429A>G	1.37:g.114515930A>G						HIPK1_ENST00000340480.4_Silent_p.A769A|HIPK1_ENST00000406344.1_Silent_p.A749A|HIPK1_ENST00000369561.4_Silent_p.A1109A|HIPK1_ENST00000369554.2_Silent_p.A1098A|HIPK1_ENST00000369553.1_Silent_p.A749A|HIPK1_ENST00000426820.2_Silent_p.A1143A|HIPK1_ENST00000369555.2_Silent_p.A1098A	p.A1143A			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	3661	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	1143					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.3429A>G	CCDS867.1	.	.	.	.	.	.	.	.	.	.	A	7.368	0.626279	0.14257	.	.	ENSG00000163349	ENST00000361587	.	.	.	5.82	2.2	0.27929	.	.	.	.	.	T	0.38639	0.1048	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23619	-1.0183	4	.	.	.	.	5.8237	0.18542	0.5662:0.2449:0.1889:0.0	.	.	.	.	G	424	.	.	S	+	1	0	HIPK1	114317453	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.472000	0.22116	0.434000	0.26340	0.533000	0.62120	AGC		0.577	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		15	87	0	0	0	1	0	15	87				
ADAR	103	broad.mit.edu	37	1	154557382	154557382	+	Missense_Mutation	SNP	G	G	A	rs367899281	byFrequency	TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:154557382G>A	ENST00000368474.4	-	15	3780	c.3581C>T	c.(3580-3582)aCg>aTg	p.T1194M	ADAR_ENST00000292205.5_Missense_Mutation_p.T1237M|ADAR_ENST00000368471.3_Missense_Mutation_p.T899M	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1194	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTTCTTGGCCGTCTCGTAGTC	0.468													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19189	0.0		0.0	False		,,,				2504	0.001					ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(3580-3582)aCg>aTg		adenosine deaminase, RNA-specific		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	108.0	104.0	106.0		2696,3581,2696,3503,3446	-6.6	0.0	1		106	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ADAR	NM_001025107.2,NM_001111.4,NM_001193495.1,NM_015840.3,NM_015841.3	81,81,81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	899/932,1194/1227,899/932,1168/1201,1149/1182	154557382	1,13005	2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154557382G>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.3581C>T	1.37:g.154557382G>A	ENSP00000357459:p.Thr1194Met					ADAR_ENST00000292205.5_Missense_Mutation_p.T1237M|ADAR_ENST00000368471.3_Missense_Mutation_p.T899M	p.T1194M	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	15	3780	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		1194			A to I editase.		B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.3581C>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856342	0.32791	2.27E-4	0.0	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29	4.76	-6.59	0.01830	Adenosine deaminase/editase (3);	2.064720	0.01907	N	0.039569	T	0.81706	0.4879	L	0.38175	1.15	0.09310	N	1	P;P;P	0.52061	0.933;0.933;0.95	B;B;B	0.42087	0.235;0.235;0.375	T	0.80027	-0.1554	10	0.51188	T	0.08	2.0958	10.5113	0.44864	0.1713:0.0962:0.6379:0.0946	.	1149;1168;1194	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	M	1237;1194;899;1163	ENSP00000292205:T1237M;ENSP00000357459:T1194M;ENSP00000357456:T899M;ENSP00000431794:T1163M	ENSP00000292205:T1237M	T	-	2	0	ADAR	152824006	0.000000	0.05858	0.000000	0.03702	0.966000	0.64601	-1.554000	0.02172	-1.199000	0.02666	-0.345000	0.07892	ACG		0.468	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		20	90	0	0	0	1	0	20	90				
CEP76	79959	broad.mit.edu	37	18	12691416	12691416	+	Missense_Mutation	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr18:12691416C>T	ENST00000262127.2	-	7	1100	c.875G>A	c.(874-876)aGa>aAa	p.R292K	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.R217K	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	292					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAATATTCTCTCCACCACTG	0.328																																						ENST00000262127.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(874-876)aGa>aAa		centrosomal protein 76kDa							99.0	101.0	101.0					18																	12691416		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12691416C>T	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.875G>A	18.37:g.12691416C>T	ENSP00000262127:p.Arg292Lys					CEP76_ENST00000423709.2_Missense_Mutation_p.R217K|RP11-973H7.2_ENST00000585331.1_RNA	p.R292K	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN			7	1100	-			292					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.875G>A	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746426	0.49257	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.79454	-1.27;-1.26	5.51	5.51	0.81932	.	0.044170	0.85682	D	0.000000	T	0.70780	0.3263	L	0.43152	1.355	0.51767	D	0.99993	B;B;B	0.25955	0.138;0.112;0.008	B;B;B	0.18561	0.022;0.019;0.013	T	0.66015	-0.6028	10	0.12430	T	0.62	-13.0564	19.7788	0.96409	0.0:1.0:0.0:0.0	.	217;292;114	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	K	292;217	ENSP00000262127:R292K;ENSP00000403074:R217K	ENSP00000262127:R292K	R	-	2	0	CEP76	12681416	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.013000	0.70776	2.749000	0.94314	0.460000	0.39030	AGA		0.328	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		18	94	0	0	0	1	0	18	94				
SLC7A14	57709	broad.mit.edu	37	3	170201117	170201117	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:170201117G>A	ENST00000231706.5	-	6	1416	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	367					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.D367D(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AAAGGAGCCCGTCACCAGCCA	0.537											OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000231706.4																			1	Substitution - coding silent(1)	p.D367D(1)	endometrium(1)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1099-1101)gaC>gaT		solute carrier family 7, member 14							77.0	73.0	74.0					3																	170201117		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170201117G>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1101C>T	3.37:g.170201117G>A			OREG0015917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1883	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.D367D	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		6	1416	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		367					B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.1101C>T	CCDS33892.1																																																																																				0.537	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		13	49	0	0	0	1	0	13	49				
UTRN	7402	broad.mit.edu	37	6	144811226	144811226	+	Missense_Mutation	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr6:144811226C>T	ENST00000367545.3	+	30	4154	c.4154C>T	c.(4153-4155)tCa>tTa	p.S1385L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1385	Interaction with SYNM.				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)	p.S1385L(1)		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)		GCAGAGATCTCAGCCCATGAG	0.418																																						ENST00000367545.3																			1	Substitution - Missense(1)	p.S1385L(1)	skin(1)	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.(4153-4155)tCa>tTa		utrophin							90.0	101.0	97.0					6																	144811226		2203	4300	6503	SO:0001583	missense	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.chr6:144811226C>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.4154C>T	6.37:g.144811226C>T	ENSP00000356515:p.Ser1385Leu						p.S1385L	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)	30	4154	+		Ovarian(120;0.218)	1385			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.4154C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.505299	0.64410	.	.	ENSG00000152818	ENST00000367545	T	0.22336	1.96	5.58	4.71	0.59529	.	0.169367	0.28436	N	0.015343	T	0.09468	0.0233	L	0.50333	1.59	0.80722	D	1	P	0.44429	0.835	B	0.35813	0.211	T	0.04029	-1.0983	10	0.72032	D	0.01	.	10.4966	0.44780	0.0:0.7968:0.1328:0.0704	.	1385	P46939	UTRO_HUMAN	L	1385	ENSP00000356515:S1385L	ENSP00000356515:S1385L	S	+	2	0	UTRN	144852919	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.186000	0.65082	1.488000	0.48433	0.655000	0.94253	TCA		0.418	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			14	101	0	0	0	1	0	14	101				
EVPL	2125	broad.mit.edu	37	17	74006522	74006522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:74006522C>A	ENST00000301607.3	-	22	3017	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.E944*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	922	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCTCCTCTTCCAGCTGGGCC	0.652																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(2764-2766)Gaa>Taa		envoplakin							31.0	33.0	32.0					17																	74006522		2203	4300	6503	SO:0001587	stop_gained	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74006522C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.2764G>T	17.37:g.74006522C>A	ENSP00000301607:p.Glu922*					EVPL_ENST00000586740.1_Nonsense_Mutation_p.E944*	p.E922*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3017	-			922			Central fibrous rod domain.		A0AUV5	Nonsense_Mutation	SNP	ENST00000301607.3	37	c.2764G>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	41	9.115393	0.99069	.	.	ENSG00000167880	ENST00000301607	.	.	.	5.12	3.09	0.35607	.	0.196867	0.45867	D	0.000338	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-34.7557	10.9894	0.47541	0.0:0.799:0.1297:0.0713	.	.	.	.	X	922	.	ENSP00000301607:E922X	E	-	1	0	EVPL	71518117	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.820000	0.55693	0.637000	0.30526	0.561000	0.74099	GAA		0.652	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		6	50	1	0	0.000157383	1	0.00016807	6	50				
OR2M4	26245	broad.mit.edu	37	1	248402918	248402918	+	Missense_Mutation	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:248402918T>A	ENST00000306687.1	+	1	688	c.688T>A	c.(688-690)Tct>Act	p.S230T		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	230					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			CCACATGGGCTCTGGGGAAAG	0.488																																						ENST00000306687.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(688-690)Tct>Act		olfactory receptor, family 2, subfamily M, member 4							97.0	91.0	93.0					1																	248402918		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402918T>A	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.688T>A	1.37:g.248402918T>A	ENSP00000306688:p.Ser230Thr						p.S230T	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	688	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		230					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.688T>A	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	t	11.89	1.772557	0.31411	.	.	ENSG00000171180	ENST00000306687	T	0.00325	8.1	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	N	0.001027	T	0.00356	0.0011	M	0.78223	2.4	0.09310	N	1	B	0.31548	0.328	B	0.38616	0.277	T	0.15009	-1.0452	10	0.66056	D	0.02	.	11.1016	0.48177	0.0:0.0:0.0:1.0	.	230	Q96R27	OR2M4_HUMAN	T	230	ENSP00000306688:S230T	ENSP00000306688:S230T	S	+	1	0	OR2M4	246469541	0.000000	0.05858	0.053000	0.19242	0.609000	0.37215	-0.069000	0.11542	1.499000	0.48617	0.443000	0.29094	TCT		0.488	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		6	50	0	0	0	1	0	6	50				
GTF3C3	9330	broad.mit.edu	37	2	197657852	197657852	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:197657852T>C	ENST00000263956.3	-	3	328	c.239A>G	c.(238-240)aAg>aGg	p.K80R	GTF3C3_ENST00000409364.3_Missense_Mutation_p.K80R|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	80					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTGAACTGACTTCCTCACTCC	0.463																																						ENST00000263956.3																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(238-240)aAg>aGg		general transcription factor IIIC, polypeptide 3, 102kDa							79.0	77.0	78.0					2																	197657852		2203	4300	6503	SO:0001583	missense	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657852T>C	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.239A>G	2.37:g.197657852T>C	ENSP00000263956:p.Lys80Arg					GTF3C3_ENST00000409364.3_Missense_Mutation_p.K80R	p.K80R	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	328	-			80					Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	ENST00000263956.3	37	c.239A>G	CCDS2316.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436936	0.43224	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.48201	0.84;0.82	5.1	5.1	0.69264	.	0.260319	0.38217	N	0.001779	T	0.52661	0.1748	L	0.36672	1.1	0.38830	D	0.955833	D;D	0.67145	0.996;0.965	P;P	0.59056	0.851;0.475	T	0.49551	-0.8928	10	0.22706	T	0.39	-22.0783	15.0876	0.72167	0.0:0.0:0.0:1.0	.	80;80	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	R	80	ENSP00000263956:K80R;ENSP00000386465:K80R	ENSP00000263956:K80R	K	-	2	0	GTF3C3	197366097	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.249000	0.58766	2.145000	0.66743	0.533000	0.62120	AAG		0.463	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			11	83	0	0	0	1	0	11	83				
SHPRH	257218	broad.mit.edu	37	6	146267421	146267421	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr6:146267421C>G	ENST00000367505.2	-	7	1533	c.1269G>C	c.(1267-1269)aaG>aaC	p.K423N	SHPRH_ENST00000275233.7_Missense_Mutation_p.K423N|SHPRH_ENST00000438092.2_Missense_Mutation_p.K423N|SHPRH_ENST00000367503.3_Missense_Mutation_p.K423N			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	423					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)		GGATTTCTGTCTTTTTCAGTT	0.333																																						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.(1267-1269)aaG>aaC		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							159.0	142.0	148.0					6																	146267421		1820	4071	5891	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146267421C>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.1269G>C	6.37:g.146267421C>G	ENSP00000356475:p.Lys423Asn					SHPRH_ENST00000438092.2_Missense_Mutation_p.K423N|SHPRH_ENST00000275233.7_Missense_Mutation_p.K423N|SHPRH_ENST00000367505.2_Missense_Mutation_p.K423N	p.K423N	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	7	1667	-		Ovarian(120;0.0365)	423					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.1269G>C	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	1.482	-0.556892	0.03967	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74209	-0.82;-0.82;-0.81;-0.82	5.52	-4.84	0.03151	DEAD-like helicase (1);	0.709934	0.13550	N	0.379595	T	0.20740	0.0499	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.09377	0.0;0.004;0.0;0.0	T	0.31194	-0.9952	10	0.13108	T	0.6	-1.0174	4.1005	0.10012	0.2744:0.3953:0.2457:0.0846	.	312;423;423;312	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	N	423;423;423;423;312	ENSP00000356475:K423N;ENSP00000356473:K423N;ENSP00000412797:K423N;ENSP00000275233:K423N	ENSP00000275233:K423N	K	-	3	2	SHPRH	146309114	0.949000	0.32298	0.702000	0.30337	0.177000	0.22998	0.511000	0.22739	-0.514000	0.06488	-1.086000	0.02197	AAG		0.333	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		4	46	0	0	0	1	0	4	46				
MPP2	4355	broad.mit.edu	37	17	41958118	41958118	+	Missense_Mutation	SNP	C	C	T	rs199968039		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:41958118C>T	ENST00000461854.1	-	11	1248	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MPP2_ENST00000520305.1_Missense_Mutation_p.R225H|MPP2_ENST00000269095.4_Missense_Mutation_p.R364H|MPP2_ENST00000523501.1_Missense_Mutation_p.R353H|MPP2_ENST00000377184.3_Missense_Mutation_p.R381H|MPP2_ENST00000536246.1_Missense_Mutation_p.R353H|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000518766.1_Missense_Mutation_p.R409H			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	388	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTTCAGGCTGCGCCGTCCCAC	0.612											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1	0.000199681	0.0	0.0	5008	,	,		20532	0.0		0.001	False		,,,				2504	0.0					ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1090-1092)cGc>cAc		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							101.0	92.0	95.0					17																	41958118		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958118C>T		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1163G>A	17.37:g.41958118C>T	ENSP00000428286:p.Arg388His		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000536246.1_Missense_Mutation_p.R353H|MPP2_ENST00000523501.1_Missense_Mutation_p.R353H|MPP2_ENST00000520305.1_Missense_Mutation_p.R225H|MPP2_ENST00000518766.1_Missense_Mutation_p.R409H|MPP2_ENST00000461854.1_Missense_Mutation_p.R388H|MPP2_ENST00000377184.3_Missense_Mutation_p.R381H	p.R364H	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	10	1395	-		Breast(137;0.00314)	388					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.1091G>A		.	.	.	.	.	.	.	.	.	.	c	34	5.358509	0.95854	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.02	5.02	0.67125	.	.	.	.	.	T	0.41003	0.1140	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.974	T	0.12167	-1.0558	9	0.42905	T	0.14	.	16.241	0.82408	0.0:1.0:0.0:0.0	.	409;381	E7EV80;Q14168-3	.;.	H	381;364;388;225;353;353;409	ENSP00000366389:R381H;ENSP00000269095:R364H;ENSP00000428286:R388H;ENSP00000428136:R225H;ENSP00000430540:R353H;ENSP00000438012:R353H;ENSP00000428182:R409H	ENSP00000269095:R364H	R	-	2	0	MPP2	39313644	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.702000	0.84576	2.511000	0.84671	0.485000	0.47835	CGC		0.612	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		15	67	0	0	0	1	0	15	67				
NDRG3	57446	broad.mit.edu	37	20	35282014	35282014	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr20:35282014G>A	ENST00000349004.1	-	16	1118	c.1037C>T	c.(1036-1038)tCt>tTt	p.S346F	NDRG3_ENST00000359675.2_Missense_Mutation_p.S334F|NDRG3_ENST00000373773.3_Missense_Mutation_p.S251F|NDRG3_ENST00000540765.1_Missense_Mutation_p.S242F|NDRG3_ENST00000373803.2_Missense_Mutation_p.S359F	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	346					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GCTGGTGACAGACCGGCTGAA	0.552																																						ENST00000373803.2																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(1075-1077)tCt>tTt		NDRG family member 3							98.0	74.0	82.0					20																	35282014		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35282014G>A	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.1037C>T	20.37:g.35282014G>A	ENSP00000345292:p.Ser346Phe					NDRG3_ENST00000540765.1_Missense_Mutation_p.S242F|NDRG3_ENST00000373773.3_Missense_Mutation_p.S251F|NDRG3_ENST00000359675.2_Missense_Mutation_p.S334F|NDRG3_ENST00000349004.1_Missense_Mutation_p.S346F	p.S359F			Q9UGV2	NDRG3_HUMAN			17	1132	-		Myeloproliferative disorder(115;0.00878)	346					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.1076C>T	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500174	0.64298	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765	T;T;T;T;T	0.52295	1.96;1.95;2.03;0.67;0.68	5.65	5.65	0.86999	.	0.148584	0.64402	D	0.000010	T	0.68540	0.3012	M	0.73962	2.25	0.52501	D	0.999957	D;P;P	0.69078	0.997;0.899;0.93	D;P;P	0.68039	0.955;0.667;0.564	T	0.70357	-0.4894	10	0.87932	D	0	.	17.2626	0.87075	0.0:0.0:1.0:0.0	.	251;334;346	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	F	346;359;334;251;242	ENSP00000345292:S346F;ENSP00000362909:S359F;ENSP00000352703:S334F;ENSP00000362878:S251F;ENSP00000442813:S242F	ENSP00000345292:S346F	S	-	2	0	NDRG3	34715428	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	3.784000	0.55416	2.941000	0.99782	0.655000	0.94253	TCT		0.552	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			10	44	0	0	0	1	0	10	44				
CTC1	80169	broad.mit.edu	37	17	8133718	8133718	+	Missense_Mutation	SNP	G	G	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:8133718G>T	ENST00000315684.8	-	17	2834	c.2827C>A	c.(2827-2829)Ccc>Acc	p.P943T		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	943					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						AGGTGAGGGGGGAATTCACAT	0.517																																						ENST00000315684.8																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(2827-2829)Ccc>Acc		CTS telomere maintenance complex component 1							94.0	91.0	92.0					17																	8133718		1928	4123	6051	SO:0001583	missense	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8133718G>T	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.2827C>A	17.37:g.8133718G>T	ENSP00000313759:p.Pro943Thr						p.P943T	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN			17	2834	-			943					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	c.2827C>A	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124780	0.37533	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83506	-1.73;-1.73	5.31	4.32	0.51571	.	0.193007	0.43579	D	0.000556	T	0.82162	0.4977	M	0.65975	2.015	0.09310	N	1	P	0.48016	0.904	P	0.44561	0.453	T	0.75806	-0.3188	10	0.59425	D	0.04	-3.2098	11.2607	0.49080	0.0:0.0:0.8171:0.1829	.	943	Q2NKJ3	CTC1_HUMAN	T	943;908	ENSP00000313759:P943T;ENSP00000396018:P908T	ENSP00000313759:P943T	P	-	1	0	CTC1	8074443	0.744000	0.28250	0.005000	0.12908	0.270000	0.26580	2.333000	0.43912	1.210000	0.43336	0.591000	0.81541	CCC		0.517	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		6	67	1	0	0.0215528	1	0.0221942	6	67				
ADAM10	102	broad.mit.edu	37	15	58919941	58919941	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr15:58919941T>C	ENST00000260408.3	-	10	1761	c.1318A>G	c.(1318-1320)Ata>Gta	p.I440V	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.I139V	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	440	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		ACTTGGCTTATATTTCTAATA	0.318																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1318-1320)Ata>Gta		ADAM metallopeptidase domain 10							143.0	140.0	141.0					15																	58919941		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58919941T>C	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1318A>G	15.37:g.58919941T>C	ENSP00000260408:p.Ile440Val					ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.I139V	p.I440V	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	10	1761	-			440			Peptidase M12B.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1318A>G	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.129992	0.77549	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.92130	0.7505	L	0.53249	1.67	0.80722	D	1	D;D	0.60160	0.975;0.987	P;P	0.62014	0.896;0.897	D	0.92545	0.6045	10	0.56958	D	0.05	-22.6187	15.6398	0.76989	0.0:0.0:0.0:1.0	.	139;440	B4DU28;O14672	.;ADA10_HUMAN	V	440;259;139	ENSP00000260408:I440V;ENSP00000379444:I139V	ENSP00000260408:I440V	I	-	1	0	ADAM10	56707233	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.673000	0.83973	2.094000	0.63399	0.460000	0.39030	ATA		0.318	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		9	49	0	0	0	1	0	9	49				
MED10	84246	broad.mit.edu	37	5	6377334	6377334	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr5:6377334T>C	ENST00000255764.3	-	2	261	c.151A>G	c.(151-153)Att>Gtt	p.I51V		NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN	mediator complex subunit 10	51					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						CACTTGTCAATATCCTGTAAG	0.398																																						ENST00000255764.3																			0				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						c.(151-153)Att>Gtt		mediator complex subunit 10							95.0	91.0	92.0					5																	6377334		2203	4300	6503	SO:0001583	missense	84246				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr5:6377334T>C		CCDS34134.1	5p15.31	2008-02-05	2007-07-30		ENSG00000133398	ENSG00000133398			28760	protein-coding gene	gene with protein product	"""NUT2 homolog (S. cerevisiae)"""	612382	"""mediator of RNA polymerase II transcription, subunit 10 homolog (NUT2, S. cerevisiae)"""			15657623, 15175163	Standard	NM_032286		Approved	TRG20, L6, MGC5309, NUT2	uc003jdo.3	Q9BTT4	OTTHUMG00000161682	ENST00000255764.3:c.151A>G	5.37:g.6377334T>C	ENSP00000255764:p.Ile51Val						p.I51V	NM_032286.2	NP_115662.2	Q9BTT4	MED10_HUMAN			2	261	-			51					C6G491	Missense_Mutation	SNP	ENST00000255764.3	37	c.151A>G	CCDS34134.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.370841	0.42003	.	.	ENSG00000133398	ENST00000255764	.	.	.	5.63	5.63	0.86233	.	0.044191	0.85682	D	0.000000	T	0.52419	0.1733	L	0.37561	1.115	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46303	-0.9201	9	0.25106	T	0.35	-21.6428	15.005	0.71504	0.0:0.0:0.0:1.0	.	51	Q9BTT4	MED10_HUMAN	V	51	.	ENSP00000255764:I51V	I	-	1	0	MED10	6430334	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.420000	0.59841	2.133000	0.65898	0.482000	0.46254	ATT		0.398	MED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365714.1	NM_032286		11	74	0	0	0	1	0	11	74				
FOSB	2354	broad.mit.edu	37	19	45974060	45974060	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:45974060G>A	ENST00000353609.3	+	2	892	c.300G>A	c.(298-300)ccG>ccA	p.P100P	FOSB_ENST00000592811.1_Silent_p.P51P|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000585836.1_Silent_p.P61P|FOSB_ENST00000586615.1_Silent_p.P51P|FOSB_ENST00000590335.1_Silent_p.P100P|FOSB_ENST00000417353.2_Silent_p.P100P|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Silent_p.P100P|FOSB_ENST00000591858.1_Silent_p.P61P	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	100					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		ACGACATGCCGGGAACCAGCT	0.662																																						ENST00000353609.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13						c.(298-300)ccG>ccA		FBJ murine osteosarcoma viral oncogene homolog B							90.0	102.0	98.0					19																	45974060		2203	4300	6503	SO:0001819	synonymous_variant	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45974060G>A		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.300G>A	19.37:g.45974060G>A						FOSB_ENST00000592436.1_Silent_p.P100P|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000586615.1_Silent_p.P51P|FOSB_ENST00000591858.1_Silent_p.P61P|FOSB_ENST00000592811.1_Silent_p.P51P|FOSB_ENST00000590335.1_Silent_p.P100P|FOSB_ENST00000417353.2_Silent_p.P100P|FOSB_ENST00000585836.1_Silent_p.P61P|FOSB_ENST00000443841.2_Intron	p.P100P	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	2	892	+		Ovarian(192;0.051)|all_neural(266;0.112)	100					A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Silent	SNP	ENST00000353609.3	37	c.300G>A	CCDS12664.1																																																																																				0.662	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		16	147	0	0	0	1	0	16	147				
EIF2AK1	27102	broad.mit.edu	37	7	6089554	6089554	+	Nonsense_Mutation	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr7:6089554T>A	ENST00000199389.6	-	3	546	c.400A>T	c.(400-402)Aga>Tga	p.R134*	EIF2AK1_ENST00000536084.1_Intron|RN7SL851P_ENST00000480512.2_RNA	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	134			R -> K (in dbSNP:rs55744865). {ECO:0000269|PubMed:17344846}.		negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TGACGAACTCTCTCTTTAGCA	0.338																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(400-402)Aga>Tga		eukaryotic translation initiation factor 2-alpha kinase 1							74.0	72.0	73.0					7																	6089554		2203	4300	6503	SO:0001587	stop_gained	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6089554T>A	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.400A>T	7.37:g.6089554T>A	ENSP00000199389:p.Arg134*					EIF2AK1_ENST00000536084.1_Intron	p.R134*	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	3	546	-		Ovarian(82;0.0423)	134		R -> K (in dbSNP:rs55744865).			A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Nonsense_Mutation	SNP	ENST00000199389.6	37	c.400A>T	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	25.0	4.589807	0.86851	.	.	ENSG00000086232	ENST00000199389;ENST00000446699	.	.	.	5.56	5.56	0.83823	.	0.469189	0.24172	N	0.040899	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-7.8644	10.3495	0.43927	0.0:0.0:0.2139:0.7861	.	.	.	.	X	134	.	ENSP00000199389:R134X	R	-	1	2	EIF2AK1	6056080	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	2.310000	0.43708	2.112000	0.64535	0.445000	0.29226	AGA		0.338	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		25	89	0	0	0	1	0	25	89				
PCDHA13	56136	broad.mit.edu	37	5	140261916	140261916	+	Silent	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr5:140261916C>T	ENST00000289272.2	+	1	63	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.L21L|PCDHA4_ENST00000512229.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	21					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGATCCTCGCAGCCTGGG	0.592																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(61-63)ctC>ctT									121.0	126.0	125.0					5																	140261916		2203	4300	6503	SO:0001819	synonymous_variant	56136							g.chr5:140261916C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.63C>T	5.37:g.140261916C>T						PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.L21L|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron	p.L21L	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	63	+								O75277	Silent	SNP	ENST00000289272.2	37	c.63C>T	CCDS4240.1																																																																																				0.592	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		35	156	0	0	0	1	0	35	156				
BPIFB6	128859	broad.mit.edu	37	20	31625400	31625400	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr20:31625400C>G	ENST00000349552.1	+	8	702	c.702C>G	c.(700-702)atC>atG	p.I234M		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	234						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GCAAAACCATCAAGCTTGCTG	0.607																																						ENST00000349552.1																			0											c.(700-702)atC>atG		BPI fold containing family B, member 6							89.0	77.0	81.0					20																	31625400		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31625400C>G	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.702C>G	20.37:g.31625400C>G	ENSP00000344929:p.Ile234Met						p.I234M	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			8	702	+			234						Missense_Mutation	SNP	ENST00000349552.1	37	c.702C>G	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113234	0.37339	.	.	ENSG00000167104	ENST00000349552	T	0.07688	3.17	4.15	2.14	0.27477	.	0.217651	0.32161	N	0.006492	T	0.14056	0.0340	M	0.80847	2.515	0.09310	N	1	D	0.53312	0.959	P	0.47744	0.556	T	0.08351	-1.0726	10	0.35671	T	0.21	.	6.6667	0.23044	0.0:0.7732:0.0:0.2268	.	234	Q8NFQ5	BPIB6_HUMAN	M	234	ENSP00000344929:I234M	ENSP00000344929:I234M	I	+	3	3	BPIFB6	31089061	0.033000	0.19621	0.077000	0.20336	0.237000	0.25408	0.255000	0.18333	0.962000	0.38057	0.561000	0.74099	ATC		0.607	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		4	85	0	0	0	1	0	4	85				
IFT122	55764	broad.mit.edu	37	3	129195646	129195646	+	Splice_Site	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:129195646T>A	ENST00000348417.2	+	11	1224		c.e11+2		IFT122_ENST00000507564.1_Splice_Site|IFT122_ENST00000347300.2_Splice_Site|IFT122_ENST00000296266.3_Splice_Site|IFT122_ENST00000431818.2_Splice_Site|IFT122_ENST00000504021.1_Splice_Site|IFT122_ENST00000349441.2_Splice_Site|IFT122_ENST00000440957.2_Splice_Site	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122						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						AGCAGAAAGGTAAGAGGCAGG	0.512																																						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.e12+2		intraflagellar transport 122 homolog (Chlamydomonas)							57.0	54.0	55.0					3																	129195646		2203	4300	6503	SO:0001630	splice_region_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.chr3:129195646T>A	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.1147+2T>A	3.37:g.129195646T>A						IFT122_ENST00000349441.2_Splice_Site|IFT122_ENST00000348417.2_Splice_Site|IFT122_ENST00000507564.1_Splice_Site|IFT122_ENST00000347300.2_Splice_Site|IFT122_ENST00000504021.1_Splice_Site|IFT122_ENST00000440957.2_Splice_Site|IFT122_ENST00000431818.2_Splice_Site		NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			12	1492	+								B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Splice_Site	SNP	ENST00000348417.2	37		CCDS3061.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311962	0.60414	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000515783	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5033	0.75716	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IFT122	130678336	1.000000	0.71417	0.916000	0.36221	0.567000	0.35839	7.635000	0.83286	2.059000	0.61396	0.482000	0.46254	.		0.512	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262	Intron	11	54	0	0	0	1	0	11	54				
GTF3C4	9329	broad.mit.edu	37	9	135554241	135554241	+	Missense_Mutation	SNP	A	A	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr9:135554241A>T	ENST00000372146.4	+	2	1799	c.1235A>T	c.(1234-1236)aAt>aTt	p.N412I	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	412					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCAGGGCTGAATGTTCACAAT	0.453																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(1234-1236)aAt>aTt		general transcription factor IIIC, polypeptide 4, 90kDa							130.0	129.0	129.0					9																	135554241		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135554241A>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1235A>T	9.37:g.135554241A>T	ENSP00000361219:p.Asn412Ile					GTF3C4_ENST00000483873.2_Intron	p.N412I	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1799	+			412					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.1235A>T	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	A	16.79	3.219499	0.58560	.	.	ENSG00000125484	ENST00000372146	T	0.64260	-0.09	5.43	5.43	0.79202	.	0.043334	0.85682	D	0.000000	T	0.65913	0.2737	N	0.24115	0.695	0.58432	D	0.999994	D	0.76494	0.999	D	0.63597	0.916	T	0.70854	-0.4759	10	0.87932	D	0	-33.0324	14.3007	0.66346	1.0:0.0:0.0:0.0	.	412	Q9UKN8	TF3C4_HUMAN	I	412	ENSP00000361219:N412I	ENSP00000361219:N412I	N	+	2	0	GTF3C4	134544062	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	6.907000	0.75724	2.059000	0.61396	0.402000	0.26972	AAT		0.453	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			30	102	0	0	0	1	0	30	102				
KIAA1109	84162	broad.mit.edu	37	4	123091839	123091839	+	Missense_Mutation	SNP	A	A	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr4:123091839A>G	ENST00000264501.4	+	3	410	c.37A>G	c.(37-39)Ata>Gta	p.I13V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.I13V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.I13V			Q2LD37	K1109_HUMAN	KIAA1109	13					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGTTCCTAGTATAACTCAATT	0.299																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(37-39)Ata>Gta		KIAA1109							103.0	99.0	101.0					4																	123091839		1804	4070	5874	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123091839A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.37A>G	4.37:g.123091839A>G	ENSP00000264501:p.Ile13Val					KIAA1109_ENST00000388738.3_Missense_Mutation_p.I13V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.I13V	p.I13V			Q2LD37	K1109_HUMAN			3	410	+			13					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.37A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	13.99	2.400517	0.42613	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.23147	2.5;2.5;1.92	5.6	5.6	0.85130	.	0.233745	0.22473	U	0.059598	T	0.14399	0.0348	N	0.03608	-0.345	0.29450	N	0.858523	B	0.18461	0.028	B	0.16722	0.016	T	0.11966	-1.0566	10	0.54805	T	0.06	.	15.731	0.77804	1.0:0.0:0.0:0.0	.	13	Q2LD37	K1109_HUMAN	V	13	ENSP00000264501:I13V;ENSP00000373390:I13V;ENSP00000389925:I13V	ENSP00000264501:I13V	I	+	1	0	KIAA1109	123311289	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.100000	0.64560	2.260000	0.74910	0.528000	0.53228	ATA		0.299	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	31	0	0	0	1	0	4	31				
ZNF658	26149	broad.mit.edu	37	9	40774189	40774189	+	Silent	SNP	G	G	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr9:40774189G>T	ENST00000602553.1	-	5	1380	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L	ZNF658_ENST00000441795.1_Silent_p.L360L|ZNF658_ENST00000377626.3_Silent_p.L362L			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTTCTGGTAGAGGGCATCTG	0.368																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(1084-1086)ctC>ctA		zinc finger protein 658							122.0	132.0	129.0					9																	40774189		2203	4298	6501	SO:0001819	synonymous_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40774189G>T	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1086C>A	9.37:g.40774189G>T						ZNF658_ENST00000377626.3_Silent_p.L362L|ZNF658_ENST00000441795.1_Silent_p.L360L	p.L362L			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	1380	-			362					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Silent	SNP	ENST00000602553.1	37	c.1086C>A	CCDS35023.1																																																																																				0.368	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		35	172	1	0	1.57019e-19	1	1.84791e-19	35	172				
SHC4	399694	broad.mit.edu	37	15	49135689	49135689	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr15:49135689T>C	ENST00000332408.4	-	10	1828	c.1400A>G	c.(1399-1401)aAt>aGt	p.N467S	SHC4_ENST00000537958.1_Missense_Mutation_p.N181S|SHC4_ENST00000396535.3_Missense_Mutation_p.N224S	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	467	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AGCCTGTGTATTAATGTAGCA	0.512																																						ENST00000332408.4																			0				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1399-1401)aAt>aGt		SHC (Src homology 2 domain containing) family, member 4							145.0	133.0	137.0					15																	49135689		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49135689T>C	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1400A>G	15.37:g.49135689T>C	ENSP00000329668:p.Asn467Ser					SHC4_ENST00000396535.3_Missense_Mutation_p.N224S|SHC4_ENST00000537958.1_Missense_Mutation_p.N181S	p.N467S	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	10	1828	-		all_lung(180;0.00466)	467			CH1.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.1400A>G	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.352503	0.82132	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.51817	2.56;0.69;0.84	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000001	T	0.63022	0.2476	L	0.54323	1.7	0.39011	D	0.959545	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66791	-0.5834	10	0.54805	T	0.06	-10.9499	13.4403	0.61108	0.0:0.0:0.0:1.0	.	224;467	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	S	467;224;181	ENSP00000329668:N467S;ENSP00000379786:N224S;ENSP00000443300:N181S	ENSP00000329668:N467S	N	-	2	0	SHC4	46922981	1.000000	0.71417	0.895000	0.35142	0.969000	0.65631	4.997000	0.63921	2.095000	0.63458	0.528000	0.53228	AAT		0.512	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		17	79	0	0	0	1	0	17	79				
RAD50	10111	broad.mit.edu	37	5	131953847	131953847	+	Nonsense_Mutation	SNP	G	G	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr5:131953847G>T	ENST00000265335.6	+	21	3637	c.3250G>T	c.(3250-3252)Gaa>Taa	p.E1084*	RAD50_ENST00000378823.3_Nonsense_Mutation_p.E945*			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1084					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTATGAAGAAGAAATTATTCA	0.323								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(2833-2835)Gaa>Taa	Homologous recombination	RAD50 homolog (S. cerevisiae)							136.0	157.0	150.0					5																	131953847		2202	4299	6501	SO:0001587	stop_gained	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131953847G>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3250G>T	5.37:g.131953847G>T	ENSP00000265335:p.Glu1084*					RAD50_ENST00000265335.6_Nonsense_Mutation_p.E1084*	p.E945*	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3651	+		all_cancers(142;0.0368)|Breast(839;0.198)	1084					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Nonsense_Mutation	SNP	ENST00000265335.6	37	c.2833G>T	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	46	12.666957	0.99687	.	.	ENSG00000113522	ENST00000378823;ENST00000265335	.	.	.	5.4	4.53	0.55603	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-15.5758	14.5352	0.67955	0.0709:0.0:0.9291:0.0	.	.	.	.	X	945;1084	.	ENSP00000265335:E1084X	E	+	1	0	RAD50	131981746	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.628000	0.67791	1.410000	0.46936	0.655000	0.94253	GAA		0.323	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		18	109	1	0	8.10497e-08	1	9.0462e-08	18	109				
SIPA1L3	23094	broad.mit.edu	37	19	38590602	38590602	+	Splice_Site	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:38590602C>T	ENST00000222345.6	+	5	2175	c.1666C>T	c.(1666-1668)Ctc>Ttc	p.L556F		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	556					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCTTGAGTAGCTCATCACCCT	0.552																																						ENST00000222345.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.e5-1		signal-induced proliferation-associated 1 like 3							52.0	53.0	52.0					19																	38590602		2203	4300	6503	SO:0001630	splice_region_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38590602C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1666-1C>T	19.37:g.38590602C>T							p.L556_splice	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		5	2175	+			556					Q2TV87	Splice_Site	SNP	ENST00000222345.6	37	c.1665_splice	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633158	0.87660	.	.	ENSG00000105738	ENST00000222345	D	0.94046	-3.34	5.88	5.88	0.94601	.	0.067091	0.64402	D	0.000009	D	0.96355	0.8811	M	0.73217	2.22	0.53005	D	0.99996	D	0.76494	0.999	D	0.73380	0.98	D	0.95508	0.8583	9	.	.	.	-39.8507	19.012	0.92877	0.0:1.0:0.0:0.0	.	556	O60292	SI1L3_HUMAN	F	556	ENSP00000222345:L556F	.	L	+	1	0	SIPA1L3	43282442	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.849000	0.55910	2.797000	0.96272	0.561000	0.74099	CTC		0.552	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	Missense_Mutation	25	66	0	0	0	1	0	25	66				
KDM1A	23028	broad.mit.edu	37	1	23381605	23381605	+	Silent	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:23381605T>C	ENST00000356634.3	+	5	923	c.774T>C	c.(772-774)cgT>cgC	p.R258R	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Silent_p.R278R|MIR4419A_ENST00000583845.1_RNA|KDM1A_ENST00000542151.1_Silent_p.R278R	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	258	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ATTTAGAGCGTCATGGTCTTA	0.368																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(832-834)cgT>cgC		lysine (K)-specific demethylase 1A							209.0	206.0	207.0					1																	23381605		2203	4300	6503	SO:0001819	synonymous_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23381605T>C	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.774T>C	1.37:g.23381605T>C						KDM1A_ENST00000542151.1_Silent_p.R278R|KDM1A_ENST00000356634.3_Silent_p.R258R|RP1-184J9.2_ENST00000427154.1_RNA	p.R278R	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			6	938	+			258					A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.834T>C	CCDS30627.1																																																																																				0.368	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		23	152	0	0	0	1	0	23	152				
KLF1	10661	broad.mit.edu	37	19	12995779	12995779	+	Missense_Mutation	SNP	G	G	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:12995779G>T	ENST00000264834.4	-	3	1049	c.1009C>A	c.(1009-1011)Cgc>Agc	p.R337S	CTD-2265O21.7_ENST00000592400.1_RNA	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	337					cellular response to peptide (GO:1901653)|chromatin remodeling (GO:0006338)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGAAGGGGCGCTGCCCCGTG	0.657																																						ENST00000264834.4																			0				endometrium(3)|large_intestine(1)|skin(1)	5						c.(1009-1011)Cgc>Agc		Kruppel-like factor 1 (erythroid)							46.0	49.0	48.0					19																	12995779		2203	4299	6502	SO:0001583	missense	10661				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:12995779G>T	U37106	CCDS12285.1	19p13.2	2014-07-18			ENSG00000105610	ENSG00000105610		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6345	protein-coding gene	gene with protein product	"""erythroid Kruppel-like factor"""	600599				8924208, 9119377	Standard	NM_006563		Approved	EKLF	uc002mvo.3	Q13351	OTTHUMG00000180536	ENST00000264834.4:c.1009C>A	19.37:g.12995779G>T	ENSP00000264834:p.Arg337Ser						p.R337S	NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1049	-		Hepatocellular(1079;0.137)	337					Q6PIJ5|Q92899	Missense_Mutation	SNP	ENST00000264834.4	37	c.1009C>A	CCDS12285.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548549	0.86127	.	.	ENSG00000105610	ENST00000264834	T	0.73897	-0.79	4.9	4.9	0.64082	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40144	N	0.001162	D	0.83608	0.5291	M	0.72576	2.205	0.39138	D	0.961981	D	0.89917	1.0	D	0.87578	0.998	D	0.85716	0.1322	10	0.87932	D	0	.	10.6192	0.45470	0.0:0.0:0.8085:0.1915	.	337	Q13351	KLF1_HUMAN	S	337	ENSP00000264834:R337S	ENSP00000264834:R337S	R	-	1	0	KLF1	12856779	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.966000	0.49208	2.557000	0.86248	0.561000	0.74099	CGC		0.657	KLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451794.1	NM_006563		11	62	1	0	0.00136819	1	0.00142589	11	62				
GPM6A	2823	broad.mit.edu	37	4	176556071	176556071	+	Silent	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr4:176556071G>C	ENST00000280187.7	-	8	867	c.822C>G	c.(820-822)ctC>ctG	p.L274L	GPM6A_ENST00000515090.1_Silent_p.L267L|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000393658.2_Silent_p.L274L|GPM6A_ENST00000506894.1_Silent_p.L263L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	274					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TGTATGCATTGAGCCGCTCTT	0.428																																						ENST00000280187.7																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(820-822)ctC>ctG		glycoprotein M6A							121.0	105.0	110.0					4																	176556071		2203	4300	6503	SO:0001819	synonymous_variant	2823					cell surface|integral to membrane		g.chr4:176556071G>C		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.822C>G	4.37:g.176556071G>C						GPM6A_ENST00000515090.1_Silent_p.L267L|GPM6A_ENST00000393658.2_Silent_p.L274L|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000506894.1_Silent_p.L263L	p.L274L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	8	867	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	274					B7Z642|E9PHI5|Q92602	Silent	SNP	ENST00000280187.7	37	c.822C>G	CCDS3824.1																																																																																				0.428	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			11	66	0	0	0	1	0	11	66				
HMCN1	83872	broad.mit.edu	37	1	185962417	185962417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:185962417C>T	ENST00000271588.4	+	23	3710	c.3481C>T	c.(3481-3483)Cag>Tag	p.Q1161*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q1161*|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1161	Ig-like C2-type 8.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAATGTGACTCAGGCTGTCAA	0.423																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3481-3483)Cag>Tag		hemicentin 1							94.0	92.0	93.0					1																	185962417		2203	4299	6502	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185962417C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3481C>T	1.37:g.185962417C>T	ENSP00000271588:p.Gln1161*					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Nonsense_Mutation_p.Q1161*	p.Q1161*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			23	3710	+			1161			Ig-like C2-type 8.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.3481C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	43	10.169340	0.99351	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	6.07	6.07	0.98685	.	0.051969	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	1161	.	ENSP00000271588:Q1161X	Q	+	1	0	HMCN1	184229040	1.000000	0.71417	0.994000	0.49952	0.802000	0.45316	5.329000	0.65892	2.885000	0.99019	0.655000	0.94253	CAG		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		11	60	0	0	0	1	0	11	60				
NOP58	51602	broad.mit.edu	37	2	203155110	203155110	+	Silent	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:203155110C>T	ENST00000264279.5	+	7	790	c.564C>T	c.(562-564)ggC>ggT	p.G188G	SNORD11B_ENST00000607707.1_RNA|SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	188					cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AATGGTATGGCTGGCATTTCC	0.313																																						ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(562-564)ggC>ggT		NOP58 ribonucleoprotein							115.0	121.0	119.0					2																	203155110		2203	4300	6503	SO:0001819	synonymous_variant	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203155110C>T		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.564C>T	2.37:g.203155110C>T							p.G188G	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			7	790	+			188					Q53SA4|Q6PK08|Q9P036|Q9UFN3	Silent	SNP	ENST00000264279.5	37	c.564C>T	CCDS2353.1																																																																																				0.313	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		9	75	0	0	0	1	0	9	75				
VCL	7414	broad.mit.edu	37	10	75849918	75849918	+	Silent	SNP	A	A	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr10:75849918A>T	ENST00000211998.4	+	10	1408	c.1314A>T	c.(1312-1314)atA>atT	p.I438I	VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.I438I|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	438	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TTGGGGAAATATCTGCTCTGA	0.398																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1312-1314)atA>atT		vinculin							152.0	147.0	149.0					10																	75849918		2203	4300	6503	SO:0001819	synonymous_variant	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75849918A>T	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1314A>T	10.37:g.75849918A>T						VCL_ENST00000372755.3_Silent_p.I438I|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	p.I438I	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			10	1408	+	Prostate(51;0.0112)		438			3 X 112 AA tandem repeats.|N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37	c.1314A>T	CCDS7341.1																																																																																				0.398	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		16	78	0	0	0	1	0	16	78				
TP53	7157	broad.mit.edu	37	17	7576904	7576904	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:7576904G>A	ENST00000269305.4	-	9	1131	c.942C>T	c.(940-942)tcC>tcT	p.S314S	TP53_ENST00000445888.2_Silent_p.S314S|TP53_ENST00000420246.2_Silent_p.S314S|TP53_ENST00000359597.4_Silent_p.S314S|TP53_ENST00000455263.2_Silent_p.S314S|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	314	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		S -> F (in a sporadic cancer; somatic mutation).		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.0?(8)|p.S315fs*22(2)|p.S315fs*30(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(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)	GCTGGGGAGAGGAGCTGGTGT	0.478		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"""		14	Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Unknown(1)	p.0?(8)|p.S315fs*22(2)|p.S315fs*30(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)	bone(5)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|stomach(1)|oesophagus(1)|breast(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.(940-942)tcC>tcT	Other conserved DNA damage response genes	tumor protein p53							134.0	122.0	126.0					17																	7576904		2203	4300	6503	SO:0001819	synonymous_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.chr17:7576904G>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.942C>T	17.37:g.7576904G>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_ENST00000359597.4_Silent_p.S314S|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Silent_p.S314S|TP53_ENST00000445888.2_Silent_p.S314S|TP53_ENST00000269305.4_Silent_p.S314S	p.S314S	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)	9	1074	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	314		S -> F (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		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	Silent	SNP	ENST00000269305.4	37	c.942C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	6.973	0.549433	0.13374	.	.	ENSG00000141510	ENST00000419024	.	.	.	5.16	-3.31	0.04988	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.32492	N	0.54007	.	.	.	.	.	.	T	0.53301	-0.8458	5	0.87932	D	0	-7.9605	1.7053	0.02881	0.4064:0.131:0.3287:0.134	.	.	.	.	L	1	.	ENSP00000402130:P1L	P	-	2	0	TP53	7517629	0.129000	0.22400	0.629000	0.29254	0.714000	0.41099	0.097000	0.15168	-0.413000	0.07507	-0.291000	0.09656	CCT		0.478	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	40	0	0	0	1	0	6	40				
TRAPPC9	83696	broad.mit.edu	37	8	141461393	141461393	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr8:141461393G>A	ENST00000438773.2	-	2	213	c.80C>T	c.(79-81)tCc>tTc	p.S27F	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S27F|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.S125F	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	27					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GTTCTCCTCGGAGACGATGCC	0.557																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(373-375)tCc>tTc		trafficking protein particle complex 9							40.0	39.0	39.0					8																	141461393		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141461393G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.80C>T	8.37:g.141461393G>A	ENSP00000405060:p.Ser27Phe					TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S27F|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S27F	p.S125F	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			2	388	-			27					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.374C>T	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179148	0.78564	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.26	5.26	0.73747	.	0.179401	0.49916	D	0.000127	T	0.56514	0.1990	L	0.34521	1.04	0.36973	D	0.893925	D;D;D	0.58620	0.97;0.983;0.979	P;P;P	0.57204	0.815;0.718;0.807	T	0.64635	-0.6361	9	0.59425	D	0.04	.	13.8009	0.63199	0.0:0.0:0.8468:0.1532	.	27;27;125	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	F	125;27;27	.	ENSP00000373978:S27F	S	-	2	0	TRAPPC9	141530575	1.000000	0.71417	0.784000	0.31847	0.985000	0.73830	7.652000	0.83633	2.439000	0.82584	0.650000	0.86243	TCC		0.557	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		9	69	0	0	0	1	0	9	69				
KIAA1109	84162	broad.mit.edu	37	4	123091841	123091841	+	Silent	SNP	A	A	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr4:123091841A>C	ENST00000264501.4	+	3	412	c.39A>C	c.(37-39)atA>atC	p.I13I	KIAA1109_ENST00000455637.1_Silent_p.I13I|KIAA1109_ENST00000388738.3_Silent_p.I13I			Q2LD37	K1109_HUMAN	KIAA1109	13					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCCTAGTATAACTCAATTAG	0.294																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(37-39)atA>atC		KIAA1109							103.0	99.0	100.0					4																	123091841		1805	4071	5876	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123091841A>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.39A>C	4.37:g.123091841A>C						KIAA1109_ENST00000388738.3_Silent_p.I13I|KIAA1109_ENST00000455637.1_Silent_p.I13I	p.I13I			Q2LD37	K1109_HUMAN			3	412	+			13					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.39A>C	CCDS43267.1																																																																																				0.294	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	31	0	0	0	1	0	4	31				
OR4C15	81309	broad.mit.edu	37	11	55322321	55322321	+	Missense_Mutation	SNP	G	G	T	rs555404830		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:55322321G>T	ENST00000314644.2	+	1	539	c.539G>T	c.(538-540)tGc>tTc	p.C180F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	126						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTGGCCATTTGCAAGCCCTTG	0.498										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(538-540)tGc>tTc		olfactory receptor, family 4, subfamily C, member 15							117.0	107.0	111.0					11																	55322321		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322321G>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.539G>T	11.37:g.55322321G>T	ENSP00000324958:p.Cys180Phe	HNSCC(20;0.049)					p.C180F	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	539	+			126					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.539G>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240619	0.58995	.	.	ENSG00000181939	ENST00000314644	T	0.07216	3.21	5.12	5.12	0.69794	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.28433	0.0703	H	0.98048	4.135	0.47862	D	0.99953	B	0.31859	0.343	B	0.33620	0.167	T	0.43212	-0.9405	9	0.87932	D	0	.	16.0842	0.81025	0.0:0.0:1.0:0.0	.	126	Q8NGM1	OR4CF_HUMAN	F	180	ENSP00000324958:C180F	ENSP00000324958:C180F	C	+	2	0	OR4C15	55078897	0.999000	0.42202	1.000000	0.80357	0.854000	0.48673	3.062000	0.49971	2.665000	0.90641	0.385000	0.25706	TGC		0.498	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		19	83	1	0	3.51602e-12	1	4.00178e-12	19	83				
COL8A1	1295	broad.mit.edu	37	3	99514668	99514668	+	Silent	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:99514668C>T	ENST00000261037.3	+	5	2303	c.1923C>T	c.(1921-1923)aaC>aaT	p.N641N	COL8A1_ENST00000273342.4_Silent_p.N641N	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	641	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGCTGTATAACGGCAGACAGA	0.552																																						ENST00000261037.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						c.(1921-1923)aaC>aaT		collagen, type VIII, alpha 1							71.0	72.0	72.0					3																	99514668		2203	4300	6503	SO:0001819	synonymous_variant	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99514668C>T	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1923C>T	3.37:g.99514668C>T						COL8A1_ENST00000273342.4_Silent_p.N641N	p.N641N	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN			5	2303	+			641			C1q.|Nonhelical region (NC1).		D3DN42|Q53XI6|Q96D07	Silent	SNP	ENST00000261037.3	37	c.1923C>T	CCDS2934.1																																																																																				0.552	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		11	51	0	0	0	1	0	11	51				
MUC2	4583	broad.mit.edu	37	11	1080567	1080567	+	Silent	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:1080567T>C	ENST00000441003.2	+	9	1236	c.1209T>C	c.(1207-1209)gaT>gaC	p.D403D	MUC2_ENST00000359061.5_Silent_p.D403D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	403	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCACCTTCGATGGGAAGACGT	0.647																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(1207-1209)gaT>gaC		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						27.0	31.0	29.0					11																	1080567		2034	4185	6219	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1080567T>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1209T>C	11.37:g.1080567T>C						MUC2_ENST00000359061.5_Silent_p.D403D	p.D403D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1236	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	403			VWFD 2.		Q14878	Silent	SNP	ENST00000441003.2	37	c.1209T>C																																																																																					0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		7	29	0	0	0	1	0	7	29				
SPANXN4	441525	broad.mit.edu	37	X	142113849	142113849	+	Missense_Mutation	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chrX:142113849T>A	ENST00000446864.1	+	1	146	c.49T>A	c.(49-51)Tgt>Agt	p.C17S	SPANXN4_ENST00000370504.3_Missense_Mutation_p.C17S	NM_001009613.2	NP_001009613.1	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	17										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGAGCCCCTGTGAATCTAA	0.428																																						ENST00000370504.3																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(49-51)Tgt>Agt		SPANX family, member N4							92.0	87.0	89.0					X																	142113849		2197	4294	6491	SO:0001583	missense	441525							g.chrX:142113849T>A	DQ336126	CCDS48178.1	Xq27.3	2009-03-25			ENSG00000189326	ENSG00000189326			33177	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 9"""	300667				14973187, 17012309	Standard	NM_001009613		Approved	SPANX-N4, CT11.9	uc004fbv.4	Q5MJ08	OTTHUMG00000022575	ENST00000446864.1:c.49T>A	X.37:g.142113849T>A	ENSP00000405210:p.Cys17Ser					SPANXN4_ENST00000446864.1_Missense_Mutation_p.C17S	p.C17S			Q5MJ08	SPXN4_HUMAN			1	132	+	Acute lymphoblastic leukemia(192;6.56e-05)		17					Q0ZNK6|Q5W0S6	Missense_Mutation	SNP	ENST00000446864.1	37	c.49T>A	CCDS48178.1	.	.	.	.	.	.	.	.	.	.	T	9.081	0.999404	0.19121	.	.	ENSG00000189326	ENST00000446864;ENST00000370504	T;T	0.19806	2.12;2.12	0.418	0.418	0.16429	.	.	.	.	.	T	0.33469	0.0864	.	.	.	0.09310	N	1	P	0.48407	0.91	P	0.58970	0.849	T	0.11991	-1.0565	7	0.56958	D	0.05	.	.	.	.	.	17	Q5MJ08	SPXN4_HUMAN	S	17	ENSP00000405210:C17S;ENSP00000359535:C17S	ENSP00000359535:C17S	C	+	1	0	SPANXN4	141941515	0.017000	0.18338	0.004000	0.12327	0.004000	0.04260	0.310000	0.19356	0.345000	0.23873	0.339000	0.21740	TGT		0.428	SPANXN4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377539.1	NM_001009613		3	8	0	0	0	1	0	3	8				
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GGTCCCAGCTGATTGCTGGGA	0.627																																						ENST00000359062.3																			1	Substitution - coding silent(1)	p.L275L(1)	urinary_tract(1)	NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(823-825)ctG>ctA		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						26.0	32.0	30.0					12																	20523043		2192	4269	6461	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20523043G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.825G>A	12.37:g.20523043G>A						RP11-284H19.1_ENST00000535755.1_RNA	p.L275L	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			1	865	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	275					O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.825G>A	CCDS31754.1																																																																																				0.627	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			7	60	0	0	0	1	0	7	60				
GALNT9	50614	broad.mit.edu	37	12	132683769	132683769	+	Missense_Mutation	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr12:132683769C>T	ENST00000328957.8	-	9	1446	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	GALNT9_ENST00000535228.1_Missense_Mutation_p.E234K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E117K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E117K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	483	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		TCGCCGTCCTCCGCTCCCTGG	0.657																																					Colon(186;2147 2752 13553 41466)	ENST00000328957.8																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9						c.(1447-1449)Gag>Aag		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)							50.0	57.0	55.0					12																	132683769		2014	4155	6169	SO:0001583	missense	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132683769C>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1447G>A	12.37:g.132683769C>T	ENSP00000329846:p.Glu483Lys					GALNT9_ENST00000535228.1_Missense_Mutation_p.E234K|GALNT9_ENST00000541995.1_Missense_Mutation_p.E117K|GALNT9_ENST00000397325.2_Missense_Mutation_p.E117K	p.E483K	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	9	1446	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	483			Ricin B-type lectin.		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	ENST00000328957.8	37	c.1447G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	5.510|5.510	0.278980|0.278980	0.10458|0.10458	.|.	.|.	ENSG00000182870|ENSG00000182870	ENST00000397325;ENST00000328957;ENST00000535228;ENST00000541995|ENST00000411988	T;T;T;T|.	0.25579|.	1.79;1.79;1.79;1.79|.	4.49|4.49	4.49|4.49	0.54785|0.54785	Ricin B-related lectin (1);Ricin B lectin (3);|.	0.098289|.	0.64402|.	D|.	0.000002|.	T|T	0.46268|0.46268	0.1384|0.1384	N|N	0.11284|0.11284	0.12|0.12	0.80722|0.80722	D|D	1|1	B;B;B|.	0.26318|.	0.146;0.02;0.02|.	B;B;B|.	0.27380|.	0.079;0.034;0.026|.	T|T	0.43130|0.43130	-0.9410|-0.9410	10|5	0.02654|.	T|.	1|.	.|.	17.1692|17.1692	0.86825|0.86825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	234;483;340|.	B3KNR7;Q9HCQ5;B3KP58|.	.;GALT9_HUMAN;.|.	K|E	117;483;234;117|255	ENSP00000380488:E117K;ENSP00000329846:E483K;ENSP00000439745:E234K;ENSP00000440544:E117K|.	ENSP00000329846:E483K|.	E|G	-|-	1|2	0|0	GALNT9|GALNT9	131249722|131249722	0.997000|0.997000	0.39634|0.39634	0.571000|0.571000	0.28486|0.28486	0.393000|0.393000	0.30537|0.30537	3.711000|3.711000	0.54868|0.54868	2.025000|2.025000	0.59659|0.59659	0.563000|0.563000	0.77884|0.77884	GAG|GGA		0.657	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		7	57	0	0	0	1	0	7	57				
PCDHA10	56139	broad.mit.edu	37	5	140236881	140236881	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr5:140236881G>A	ENST00000307360.5	+	1	1248	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.R416R|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	416	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCGAGAGGGTGTCGGCCT	0.637																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1246-1248)agG>agA									136.0	124.0	128.0					5																	140236881		2197	4274	6471	SO:0001819	synonymous_variant	56139							g.chr5:140236881G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1248G>A	5.37:g.140236881G>A						PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.R416R|PCDHA8_ENST00000531613.1_Intron	p.R416R	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1248	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1248G>A	CCDS54921.1																																																																																				0.637	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		55	94	0	0	0	1	0	55	94				
PIP4K2A	5305	broad.mit.edu	37	10	22830863	22830863	+	Silent	SNP	G	G	A	rs111483402	byFrequency	TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr10:22830863G>A	ENST00000376573.4	-	8	1134	c.906C>T	c.(904-906)ggC>ggT	p.G302G	PIP4K2A_ENST00000323883.7_Silent_p.G162G|PIP4K2A_ENST00000545335.1_Silent_p.G243G	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	302	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CATCGCTCTCGCCCTCCTCCT	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		17528	0.0		0.001	False		,,,				2504	0.001					ENST00000376573.4																			0				endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						c.(904-906)ggC>ggT		phosphatidylinositol-5-phosphate 4-kinase, type II, alpha		G		2,4404	4.2+/-10.8	0,2,2201	92.0	80.0	84.0		906	-1.8	1.0	10	dbSNP_132	84	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	PIP4K2A	NM_005028.4		0,11,6492	AA,AG,GG		0.1047,0.0454,0.0846		302/407	22830863	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830863G>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.906C>T	10.37:g.22830863G>A						PIP4K2A_ENST00000545335.1_Silent_p.G243G|PIP4K2A_ENST00000323883.7_Silent_p.G162G	p.G302G	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN			8	1134	-			302			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Silent	SNP	ENST00000376573.4	37	c.906C>T	CCDS7141.1																																																																																				0.602	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		7	63	0	0	0	1	0	7	63				
WAPAL	23063	broad.mit.edu	37	10	88260246	88260246	+	Missense_Mutation	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr10:88260246T>C	ENST00000298767.5	-	3	1226	c.754A>G	c.(754-756)Att>Gtt	p.I252V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	252	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAACTTAAAATACAGTCTTCT	0.353																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(754-756)Att>Gtt		wings apart-like homolog (Drosophila)							97.0	97.0	97.0					10																	88260246		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88260246T>C	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.754A>G	10.37:g.88260246T>C	ENSP00000298767:p.Ile252Val						p.I252V	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			3	1226	-			252			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.754A>G	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	T	0.142	-1.101584	0.01828	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.43294	0.95	5.77	3.45	0.39498	.	0.300780	0.28677	N	0.014515	T	0.19005	0.0456	N	0.16478	0.41	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.16012	-1.0417	10	0.02654	T	1	.	4.8229	0.13400	0.129:0.2805:0.0:0.5904	.	252;252;295	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	V	337;252;337	ENSP00000298767:I252V	ENSP00000298767:I252V	I	-	1	0	WAPAL	88250226	0.967000	0.33354	0.999000	0.59377	0.996000	0.88848	-0.096000	0.11059	0.456000	0.26937	0.528000	0.53228	ATT		0.353	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		9	66	0	0	0	1	0	9	66				
DNAH10	196385	broad.mit.edu	37	12	124401152	124401152	+	Missense_Mutation	SNP	G	G	A	rs375217171		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr12:124401152G>A	ENST00000409039.3	+	62	10542	c.10517G>A	c.(10516-10518)cGg>cAg	p.R3506Q		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3506	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCCAAGGACGGCAGTTTATT	0.438																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(10516-10518)cGg>cAg		dynein, axonemal, heavy chain 10		G	GLN/ARG	0,3714		0,0,1857	68.0	70.0	69.0		10517	4.7	0.9	12		69	1,8175		0,1,4087	no	missense	DNAH10	NM_207437.3	43	0,1,5944	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	3506/4472	124401152	1,11889	1857	4088	5945	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124401152G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.10517G>A	12.37:g.124401152G>A	ENSP00000386770:p.Arg3506Gln						p.R3506Q	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	62	10542	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3506			AAA 5 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.10517G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360129	0.82353	0.0	1.22E-4	ENSG00000197653	ENST00000409039	T	0.26223	1.75	4.74	4.74	0.60224	.	0.068962	0.56097	D	0.000022	T	0.24586	0.0596	L	0.52266	1.64	0.54753	D	0.99998	P	0.47191	0.891	B	0.40782	0.34	T	0.06770	-1.0808	10	0.09843	T	0.71	.	17.7267	0.88367	0.0:0.0:1.0:0.0	.	3506	Q8IVF4	DYH10_HUMAN	Q	3506	ENSP00000386770:R3506Q	ENSP00000386770:R3506Q	R	+	2	0	DNAH10	122967105	1.000000	0.71417	0.926000	0.36857	0.945000	0.59286	7.968000	0.87980	2.177000	0.69029	0.561000	0.74099	CGG		0.438	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			9	36	0	0	0	1	0	9	36				
SLC52A1	55065	broad.mit.edu	37	17	4936430	4936430	+	Nonsense_Mutation	SNP	G	G	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:4936430G>C	ENST00000424747.1	-	5	1881	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	SLC52A1_ENST00000512825.2_Missense_Mutation_p.H349D|SLC52A1_ENST00000254853.5_Nonsense_Mutation_p.S390*	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	390					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										CTTCACATATGAGAACACACA	0.622																																						ENST00000424747.1																			0											c.(1168-1170)tCa>tGa		solute carrier family 52 (riboflavin transporter), member 1							89.0	75.0	80.0					17																	4936430		2203	4300	6503	SO:0001587	stop_gained	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4936430G>C	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.1169C>G	17.37:g.4936430G>C	ENSP00000399979:p.Ser390*					SLC52A1_ENST00000512825.2_Missense_Mutation_p.H349D|SLC52A1_ENST00000254853.5_Nonsense_Mutation_p.S390*	p.S390*	NM_001104577.1	NP_001098047.1	Q9NWF4	RFT_HUMAN			5	1881	-			390					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Nonsense_Mutation	SNP	ENST00000424747.1	37	c.1169C>G	CCDS11066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.801765|6.801765	0.97849|0.97849	.|.	.|.	ENSG00000132517|ENSG00000132517	ENST00000512825|ENST00000254853;ENST00000424747	T|.	0.72394|.	-0.65|.	0.913|0.913	-0.112|-0.112	0.13572|0.13572	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.58075|.	0.2097|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.23442|.	0.085|.	B|.	0.23574|.	0.047|.	T|.	0.55655|.	-0.8107|.	8|.	0.16896|0.87932	T|D	0.51|0	.|.	5.1026|5.1026	0.14768|0.14768	0.2362:0.0:0.7638:0.0|0.2362:0.0:0.7638:0.0	.|.	349|.	F5H5Y1|.	.|.	D|X	349|390	ENSP00000443026:H349D|.	ENSP00000443026:H349D|ENSP00000254853:S390X	H|S	-|-	1|2	0|0	GPR172B|GPR172B	4877154|4877154	1.000000|1.000000	0.71417|0.71417	0.013000|0.013000	0.15412|0.15412	0.005000|0.005000	0.04900|0.04900	6.140000|6.140000	0.71738|0.71738	-0.031000|-0.031000	0.13781|0.13781	-0.136000|-0.136000	0.14681|0.14681	CAT|TCA		0.622	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986		8	47	0	0	0	1	0	8	47				
GGCX	2677	broad.mit.edu	37	2	85788103	85788103	+	Missense_Mutation	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:85788103C>T	ENST00000233838.4	-	2	129	c.49G>A	c.(49-51)Gta>Ata	p.V17I	GGCX_ENST00000430215.3_Intron|VAMP8_ENST00000432071.1_5'Flank	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	17					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	TCTTTCTGTACTTTATCTGCA	0.498																																						ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(49-51)Gta>Ata		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						134.0	143.0	140.0					2																	85788103		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85788103C>T		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.49G>A	2.37:g.85788103C>T	ENSP00000233838:p.Val17Ile					GGCX_ENST00000430215.3_Intron	p.V17I	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			2	129	-			17					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.49G>A	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921715	0.52653	.	.	ENSG00000115486	ENST00000233838	D	0.93953	-3.32	4.54	4.54	0.55810	.	0.727696	0.13033	N	0.419106	D	0.89308	0.6678	L	0.36672	1.1	0.80722	D	1	B	0.19817	0.039	B	0.14023	0.01	D	0.84366	0.0541	10	0.35671	T	0.21	-0.4381	12.9771	0.58544	0.0:1.0:0.0:0.0	.	17	P38435	VKGC_HUMAN	I	17	ENSP00000233838:V17I	ENSP00000233838:V17I	V	-	1	0	GGCX	85641614	0.999000	0.42202	1.000000	0.80357	0.928000	0.56348	1.964000	0.40462	2.514000	0.84764	0.555000	0.69702	GTA		0.498	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		19	96	0	0	0	1	0	19	96				
CERS3	204219	broad.mit.edu	37	15	101024772	101024772	+	Missense_Mutation	SNP	C	C	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr15:101024772C>A	ENST00000394113.1	-	7	1080	c.390G>T	c.(388-390)aaG>aaT	p.K130N	CERS3_ENST00000284382.4_Missense_Mutation_p.K130N|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000538112.2_Missense_Mutation_p.K130N			Q8IU89	CERS3_HUMAN	ceramide synthase 3	130	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										CCTGGAATTTCTTCAGCCTGG	0.517																																						ENST00000284382.4																			0											c.(388-390)aaG>aaT		ceramide synthase 3							73.0	59.0	63.0					15																	101024772		2203	4300	6503	SO:0001583	missense	204219					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr15:101024772C>A		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568	ENST00000394113.1:c.390G>T	15.37:g.101024772C>A	ENSP00000377672:p.Lys130Asn					CERS3_ENST00000538112.2_Missense_Mutation_p.K130N|CERS3_ENST00000394113.1_Missense_Mutation_p.K130N|CERS3_ENST00000560944.1_Intron	p.K130N	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN			6	813	-			130			TLC.		Q8NE64|Q8NEN6	Missense_Mutation	SNP	ENST00000394113.1	37	c.390G>T	CCDS10384.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271755	0.40194	.	.	ENSG00000154227	ENST00000284382;ENST00000394113;ENST00000538112	T;T	0.08008	3.14;3.14	5.26	3.38	0.38709	TRAM/LAG1/CLN8 homology domain (2);Homeodomain-related (1);Homeobox (1);	0.099244	0.64402	D	0.000002	T	0.10852	0.0265	M	0.64997	1.995	0.51233	D	0.999917	P	0.50272	0.933	B	0.41135	0.348	T	0.03325	-1.1048	10	0.66056	D	0.02	-13.5666	10.8102	0.46543	0.0:0.8429:0.0:0.1571	.	130	Q8IU89	CERS3_HUMAN	N	130;141;130	ENSP00000284382:K130N;ENSP00000437640:K130N	ENSP00000284382:K130N	K	-	3	2	CERS3	98842295	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	2.340000	0.43974	0.608000	0.30000	-0.136000	0.14681	AAG		0.517	CERS3-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313594.4	NM_178842		14	52	1	0	1.52009e-12	1	1.75317e-12	14	52				
IFT172	26160	broad.mit.edu	37	2	27684212	27684212	+	Missense_Mutation	SNP	C	C	T	rs148237432		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:27684212C>T	ENST00000260570.3	-	22	2469	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	789					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTTCCTCTCGGGTCAGCAC	0.567																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(2365-2367)cGa>cAa		intraflagellar transport 172 homolog (Chlamydomonas)		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	97.0	101.0		2366	2.9	1.0	2	dbSNP_134	101	0,8600		0,0,4300	no	missense	IFT172	NM_015662.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	789/1750	27684212	1,13005	2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27684212C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.2366G>A	2.37:g.27684212C>T	ENSP00000260570:p.Arg789Gln						p.R789Q	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			22	2469	-	Acute lymphoblastic leukemia(172;0.155)		789					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.2366G>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.021570	0.35701	2.27E-4	0.0	ENSG00000138002	ENST00000260570	T	0.62941	-0.01	5.68	2.93	0.34026	Tetratricopeptide-like helical (1);	0.576140	0.19450	N	0.113947	T	0.41743	0.1172	N	0.25647	0.755	0.80722	D	1	B	0.18610	0.029	B	0.09377	0.004	T	0.11991	-1.0565	10	0.10902	T	0.67	-1.6506	7.833	0.29353	0.0:0.6806:0.0:0.3194	.	789	Q9UG01	IF172_HUMAN	Q	789	ENSP00000260570:R789Q	ENSP00000260570:R789Q	R	-	2	0	IFT172	27537716	0.418000	0.25440	0.999000	0.59377	0.878000	0.50629	0.750000	0.26334	0.772000	0.33382	0.585000	0.79938	CGA		0.567	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		17	87	0	0	0	1	0	17	87				
SPRY3	10251	broad.mit.edu	37	X	155003770	155003770	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chrX:155003770G>A	ENST00000302805.2	+	2	668	c.237G>A	c.(235-237)ctG>ctA	p.L79L		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	79					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCAGCATCTGAGCCAATCTA	0.542																																						ENST00000302805.2																			0											c.(235-237)ctG>ctA		sprouty homolog 3 (Drosophila)							238.0	199.0	212.0					X																	155003770		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003770G>A	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.237G>A	X.37:g.155003770G>A							p.L79L	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	668	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		79					A8K0H8	Silent	SNP	ENST00000302805.2	37	c.237G>A	CCDS14769.4																																																																																				0.542	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		25	84	0	0	0	1	0	25	84				
TRIM42	287015	broad.mit.edu	37	3	140401654	140401654	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:140401654G>A	ENST00000286349.3	+	2	883	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	231						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCTTTGACCGCTCCTCCGGG	0.617																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(691-693)cGc>cAc		tripartite motif containing 42							74.0	74.0	74.0					3																	140401654		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401654G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.692G>A	3.37:g.140401654G>A	ENSP00000286349:p.Arg231His						p.R231H	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	883	+			231					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.692G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422864	0.43020	.	.	ENSG00000155890	ENST00000286349	T	0.38722	1.12	5.2	4.29	0.51040	.	0.209202	0.34178	N	0.004193	T	0.24314	0.0589	N	0.22421	0.69	0.32889	D	0.511627	P	0.38992	0.653	B	0.29524	0.103	T	0.37478	-0.9704	10	0.35671	T	0.21	-30.3461	11.8347	0.52316	0.0:0.1755:0.8245:0.0	.	231	Q8IWZ5	TRI42_HUMAN	H	231	ENSP00000286349:R231H	ENSP00000286349:R231H	R	+	2	0	TRIM42	141884344	0.870000	0.30015	0.993000	0.49108	0.874000	0.50279	1.258000	0.32944	2.435000	0.82474	0.561000	0.74099	CGC		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		13	131	0	0	0	1	0	13	131				
PRR30	339779	broad.mit.edu	37	2	27360256	27360256	+	Silent	SNP	G	G	A	rs369715723		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:27360256G>A	ENST00000335524.3	-	3	1467	c.942C>T	c.(940-942)ccC>ccT	p.P314P	PREB_ENST00000260643.2_5'Flank|PREB_ENST00000406567.3_5'Flank|PREB_ENST00000416802.1_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		314										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCTTTTCTCGGGCAGCAGAT	0.667																																						ENST00000335524.3																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20						c.(940-942)ccC>ccT		chromosome 2 open reading frame 53		G		1,4405	2.1+/-5.4	0,1,2202	36.0	38.0	38.0		942	2.2	1.0	2		38	0,8600		0,0,4300	no	coding-synonymous	C2orf53	NM_178553.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		314/413	27360256	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	339779							g.chr2:27360256G>A																												ENST00000335524.3:c.942C>T	2.37:g.27360256G>A							p.P314P	NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN			3	1467	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		314					Q86UE2	Silent	SNP	ENST00000335524.3	37	c.942C>T	CCDS1739.1																																																																																				0.667	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			20	77	0	0	0	1	0	20	77				
EYA3	2140	broad.mit.edu	37	1	28354301	28354301	+	Splice_Site	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:28354301T>A	ENST00000373871.3	-	7	738	c.498A>T	c.(496-498)caA>caT	p.Q166H	EYA3_ENST00000373863.3_Intron|EYA3_ENST00000436342.2_Splice_Site_p.Q40H|EYA3_ENST00000545175.1_Splice_Site_p.Q113H|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000540618.1_Intron|EYA3_ENST00000471498.1_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	166					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CCTATTTACCTTGAATGGGAT	0.368																																						ENST00000373871.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.e7+1		eyes absent homolog 3 (Drosophila)							175.0	177.0	177.0					1																	28354301		2203	4300	6503	SO:0001630	splice_region_variant	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28354301T>A	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.499+1A>T	1.37:g.28354301T>A						EYA3_ENST00000436342.2_Splice_Site_p.Q40_splice|EYA3_ENST00000545175.1_Splice_Site_p.Q113_splice|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Intron|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000540618.1_Intron	p.Q166_splice			Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	7	738	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	166					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Splice_Site	SNP	ENST00000373871.3	37	c.499_splice	CCDS316.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.519274	0.27211	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000545175	D;D;D	0.93712	-3.03;-3.27;-3.02	4.76	3.64	0.41730	.	0.289757	0.33309	N	0.005042	D	0.86201	0.5876	N	0.19112	0.55	0.80722	D	1	P	0.40794	0.729	B	0.41946	0.371	T	0.81015	-0.1124	10	0.10902	T	0.67	-11.2905	10.2771	0.43517	0.0:0.0779:0.0:0.9221	.	166	Q99504	EYA3_HUMAN	H	166;40;113	ENSP00000362978:Q166H;ENSP00000405587:Q40H;ENSP00000442280:Q113H	ENSP00000362978:Q166H	Q	-	3	2	EYA3	28226888	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.175000	0.58263	0.852000	0.35287	-0.376000	0.06991	CAA		0.368	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990	Missense_Mutation	10	109	0	0	0	1	0	10	109				
RANBP10	57610	broad.mit.edu	37	16	67778309	67778309	+	Silent	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr16:67778309G>A	ENST00000317506.3	-	4	565	c.450C>T	c.(448-450)ttC>ttT	p.F150F	RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000411657.2_Silent_p.F33F|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602677.1_Silent_p.F150F|RANBP10_ENST00000425512.2_Silent_p.F18F	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	150	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CCGAGGAGCAGAACGAATGCC	0.532																																						ENST00000317506.3																			0				endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(448-450)ttC>ttT		RAN binding protein 10							206.0	132.0	157.0					16																	67778309		2198	4300	6498	SO:0001819	synonymous_variant	57610							g.chr16:67778309G>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.450C>T	16.37:g.67778309G>A						RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000602677.1_Silent_p.F150F|RANBP10_ENST00000411657.2_Silent_p.F33F|RANBP10_ENST00000425512.2_Silent_p.F18F|RANBP10_ENST00000536251.1_5'UTR	p.F150F	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	4	565	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	150			B30.2/SPRY.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Silent	SNP	ENST00000317506.3	37	c.450C>T	CCDS32469.1																																																																																				0.532	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		6	41	0	0	0	1	0	6	41				
NLRP5	126206	broad.mit.edu	37	19	56549545	56549545	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr19:56549545G>A	ENST00000390649.3	+	10	2770	c.2770G>A	c.(2770-2772)Gcc>Acc	p.A924T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	924					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCCCAGTGCGCCCTGCAGAA	0.532																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2770-2772)Gcc>Acc		NLR family, pyrin domain containing 5							130.0	131.0	130.0					19																	56549545		2118	4245	6363	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56549545G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2770G>A	19.37:g.56549545G>A	ENSP00000375063:p.Ala924Thr						p.A924T	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	10	2770	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	924					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2770G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	1.128	-0.653293	0.03480	.	.	ENSG00000171487	ENST00000390649	T	0.50813	0.73	3.66	-7.31	0.01441	.	1.574090	0.04506	N	0.382013	T	0.12732	0.0309	N	0.00630	-1.315	0.09310	N	1	B	0.18166	0.026	B	0.17433	0.018	T	0.18116	-1.0347	10	0.21540	T	0.41	.	1.5407	0.02554	0.3466:0.1079:0.3321:0.2134	.	924	P59047	NALP5_HUMAN	T	924	ENSP00000375063:A924T	ENSP00000375063:A924T	A	+	1	0	NLRP5	61241357	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	-0.945000	0.03909	-3.198000	0.00218	-1.578000	0.00866	GCC		0.532	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		35	94	0	0	0	1	0	35	94				
PFKFB3	5209	broad.mit.edu	37	10	6257188	6257188	+	Silent	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr10:6257188C>T	ENST00000379775.4	+	3	537	c.207C>T	c.(205-207)ttC>ttT	p.F69F	PFKFB3_ENST00000540253.1_Silent_p.F83F|PFKFB3_ENST00000379782.3_Silent_p.F69F|PFKFB3_ENST00000536985.1_Silent_p.F49F|PFKFB3_ENST00000360521.2_Silent_p.F69F|PFKFB3_ENST00000379789.4_Silent_p.F49F|PFKFB3_ENST00000317350.4_Silent_p.F69F|PFKFB3_ENST00000379785.1_Silent_p.F69F	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	69	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						CCACAGTGTTCAACGTCGGGG	0.567																																						ENST00000379775.4																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						c.(205-207)ttC>ttT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3							65.0	49.0	55.0					10																	6257188		2203	4300	6503	SO:0001819	synonymous_variant	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6257188C>T		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.207C>T	10.37:g.6257188C>T						PFKFB3_ENST00000379789.4_Silent_p.F49F|PFKFB3_ENST00000540253.1_Silent_p.F83F|PFKFB3_ENST00000360521.2_Silent_p.F69F|PFKFB3_ENST00000317350.4_Silent_p.F69F|PFKFB3_ENST00000536985.1_Silent_p.F49F|PFKFB3_ENST00000379785.1_Silent_p.F69F|PFKFB3_ENST00000379782.3_Silent_p.F69F	p.F69F	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN			3	537	+			69			6-phosphofructo-2-kinase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Silent	SNP	ENST00000379775.4	37	c.207C>T	CCDS7078.1																																																																																				0.567	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			12	61	0	0	0	1	0	12	61				
SSTR5	6755	broad.mit.edu	37	16	1129463	1129463	+	Missense_Mutation	SNP	G	G	A	rs548054752		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr16:1129463G>A	ENST00000293897.4	+	1	683	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Missense_Mutation_p.A199T|SSTR5_ENST00000562758.1_Missense_Mutation_p.A199T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	199					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	GCTGTGGGGCGCCGTCTTCAT	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		13401	0.001		0.0	False		,,,				2504	0.0					ENST00000293897.4																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)	9						c.(595-597)Gcc>Acc		somatostatin receptor 5	Octreotide(DB00104)						31.0	35.0	34.0					16																	1129463		2184	4291	6475	SO:0001583	missense	6755				negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr16:1129463G>A	D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.595G>A	16.37:g.1129463G>A	ENSP00000293897:p.Ala199Thr					SSTR5_ENST00000397547.2_Missense_Mutation_p.A199T|SSTR5_ENST00000562758.1_Missense_Mutation_p.A199T	p.A199T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN			1	683	+		Hepatocellular(780;0.00369)	199					P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	ENST00000293897.4	37	c.595G>A	CCDS10429.1	.	.	.	.	.	.	.	.	.	.	G	1.993	-0.431300	0.04669	.	.	ENSG00000162009	ENST00000397547;ENST00000293897;ENST00000539762	T;T	0.37058	1.22;1.22	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.113799	0.64402	D	0.000013	T	0.16685	0.0401	N	0.04320	-0.23	0.47308	D	0.99938	B	0.28667	0.219	B	0.26969	0.075	T	0.11155	-1.0599	10	0.02654	T	1	.	16.7462	0.85473	0.0:0.0:1.0:0.0	.	199	P35346	SSR5_HUMAN	T	199	ENSP00000380680:A199T;ENSP00000293897:A199T	ENSP00000293897:A199T	A	+	1	0	SSTR5	1069464	0.990000	0.36364	0.086000	0.20670	0.080000	0.17528	3.040000	0.49799	2.202000	0.70862	0.561000	0.74099	GCC		0.677	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420836.1			3	13	0	0	0	1	0	3	13				
SMG1	23049	broad.mit.edu	37	16	18848708	18848708	+	Missense_Mutation	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr16:18848708T>A	ENST00000446231.2	-	46	7883	c.7471A>T	c.(7471-7473)Agc>Tgc	p.S2491C	SMG1_ENST00000389467.3_Missense_Mutation_p.S2491C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2491					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCATCTAAGCTACCGTCCAAC	0.423																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(7471-7473)Agc>Tgc		SMG1 phosphatidylinositol 3-kinase-related kinase							115.0	112.0	113.0					16																	18848708		1885	4112	5997	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18848708T>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7471A>T	16.37:g.18848708T>A	ENSP00000402515:p.Ser2491Cys					SMG1_ENST00000389467.3_Missense_Mutation_p.S2491C	p.S2491C			Q96Q15	SMG1_HUMAN			46	7883	-			2491					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.7471A>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246706	0.59103	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01139	5.28;5.28	5.99	4.9	0.64082	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.01189	0.0039	N	0.08118	0	0.35774	D	0.821146	P	0.50943	0.94	P	0.46975	0.533	T	0.73363	-0.4006	10	0.45353	T	0.12	.	12.1715	0.54161	0.0:0.0665:0.0:0.9335	.	2491	Q96Q15	SMG1_HUMAN	C	2491	ENSP00000402515:S2491C;ENSP00000374118:S2491C	ENSP00000374118:S2491C	S	-	1	0	SMG1	18756209	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.032000	0.70918	1.081000	0.41110	-0.290000	0.09829	AGC		0.423	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		11	69	0	0	0	1	0	11	69				
ZNF214	7761	broad.mit.edu	37	11	7021701	7021701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:7021701G>A	ENST00000278314.4	-	3	1528	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	ZNF214_ENST00000536068.1_Nonsense_Mutation_p.Q405*|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	405					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGTACTAACTGATGAATTCGA	0.413																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1213-1215)Cag>Tag		zinc finger protein 214							85.0	90.0	88.0					11																	7021701		2201	4296	6497	SO:0001587	stop_gained	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021701G>A	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1213C>T	11.37:g.7021701G>A	ENSP00000278314:p.Gln405*					ZNF214_ENST00000536068.1_Nonsense_Mutation_p.Q405*	p.Q405*	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1528	-			405					B2R8Q1	Nonsense_Mutation	SNP	ENST00000278314.4	37	c.1213C>T	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	G	36	5.636866	0.96693	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	.	.	.	3.75	2.83	0.33086	.	0.866969	0.09616	N	0.778193	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.4441	0.38686	0.1089:0.0:0.8911:0.0	.	.	.	.	X	405	.	ENSP00000278314:Q405X	Q	-	1	0	ZNF214	6978277	0.018000	0.18449	1.000000	0.80357	0.996000	0.88848	0.819000	0.27308	1.143000	0.42306	0.655000	0.94253	CAG		0.413	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			5	120	0	0	0	1	0	5	120				
RGS7BP	401190	broad.mit.edu	37	5	63803606	63803606	+	Silent	SNP	G	G	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr5:63803606G>T	ENST00000334025.2	+	2	560	c.234G>T	c.(232-234)tcG>tcT	p.S78S	RGS7BP_ENST00000508162.1_Intron	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	78					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GGGATGTCTCGGTCAGCTGCC	0.498																																						ENST00000334025.2																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11						c.(232-234)tcG>tcT		regulator of G-protein signaling 7 binding protein							68.0	67.0	67.0					5																	63803606		2203	4300	6503	SO:0001819	synonymous_variant	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63803606G>T	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.234G>T	5.37:g.63803606G>T						RGS7BP_ENST00000508162.1_Intron	p.S78S	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	2	560	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	78					B7Z3X1	Silent	SNP	ENST00000334025.2	37	c.234G>T	CCDS34170.1																																																																																				0.498	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		12	72	1	0	2.68362e-12	1	3.07461e-12	12	72				
SYF2	25949	broad.mit.edu	37	1	25549805	25549805	+	Silent	SNP	T	T	C			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:25549805T>C	ENST00000236273.4	-	7	709	c.684A>G	c.(682-684)aaA>aaG	p.K228K	SYF2_ENST00000354361.3_Silent_p.K186K	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	228					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		CAGCTGTGTATTTCCCATAGA	0.358																																						ENST00000236273.4																			0				kidney(1)|large_intestine(1)|lung(4)	6						c.(682-684)aaA>aaG		SYF2 pre-mRNA-splicing factor							160.0	164.0	163.0					1																	25549805		2202	4300	6502	SO:0001819	synonymous_variant	25949					catalytic step 2 spliceosome		g.chr1:25549805T>C	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 29"""	607090	"""CCNDBP1 interactor"", ""SYF2 homolog, RNA splicing factor (S. cerevisiae)"""	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.684A>G	1.37:g.25549805T>C						SYF2_ENST00000354361.3_Silent_p.K186K	p.K228K	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)	7	709	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	228					Q5TH73	Silent	SNP	ENST00000236273.4	37	c.684A>G	CCDS259.1																																																																																				0.358	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484		20	200	0	0	0	1	0	20	200				
SSFA2	6744	broad.mit.edu	37	2	182780744	182780744	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:182780744C>G	ENST00000431877.2	+	11	2556	c.2377C>G	c.(2377-2379)Cag>Gag	p.Q793E	SSFA2_ENST00000428267.2_Missense_Mutation_p.Q640E|SSFA2_ENST00000409136.1_Missense_Mutation_p.Q302E|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q793E|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q793E	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	793						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACATGATGGTCAGTCTTTAGT	0.498																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2377-2379)Cag>Gag		sperm specific antigen 2							65.0	61.0	62.0					2																	182780744		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780744C>G	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2377C>G	2.37:g.182780744C>G	ENSP00000388731:p.Gln793Glu					SSFA2_ENST00000409136.1_Missense_Mutation_p.Q302E|SSFA2_ENST00000409001.1_Missense_Mutation_p.Q793E|SSFA2_ENST00000428267.2_Missense_Mutation_p.Q640E|SSFA2_ENST00000320370.7_Missense_Mutation_p.Q793E	p.Q793E	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2556	+			793					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2377C>G	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372128	0.24857	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.14640	2.72;2.49;2.72;2.72;2.49	5.95	5.95	0.96441	.	0.457123	0.24613	N	0.037029	T	0.16128	0.0388	M	0.69823	2.125	0.34154	D	0.667827	P;P;P;P;P	0.36837	0.571;0.571;0.571;0.571;0.571	B;B;B;B;B	0.33960	0.173;0.173;0.173;0.173;0.173	T	0.14172	-1.0482	10	0.09590	T	0.72	-2.9877	15.1469	0.72662	0.1412:0.8588:0.0:0.0	.	640;302;793;793;793	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	E	793;793;793;640;302	ENSP00000388731:Q793E;ENSP00000314669:Q793E;ENSP00000387319:Q793E;ENSP00000409867:Q640E;ENSP00000386916:Q302E	ENSP00000314669:Q793E	Q	+	1	0	SSFA2	182488989	0.965000	0.33210	0.904000	0.35570	0.082000	0.17680	2.595000	0.46197	2.824000	0.97209	0.655000	0.94253	CAG		0.498	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		9	45	0	0	0	1	0	9	45				
MYO9A	4649	broad.mit.edu	37	15	72320109	72320109	+	Missense_Mutation	SNP	C	C	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr15:72320109C>G	ENST00000356056.5	-	4	1433	c.961G>C	c.(961-963)Gag>Cag	p.E321Q	MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.E321Q|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.E321Q|MYO9A_ENST00000564571.1_Missense_Mutation_p.E321Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	321	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTGGACTTCTCCAGTAGATAT	0.299																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(961-963)Gag>Cag		myosin IXA							101.0	97.0	99.0					15																	72320109		2198	4297	6495	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72320109C>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.961G>C	15.37:g.72320109C>G	ENSP00000348349:p.Glu321Gln					MYO9A_ENST00000564571.1_Missense_Mutation_p.E321Q|MYO9A_ENST00000566885.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.E321Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.E321Q|MYO9A_ENST00000563542.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA	p.E321Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			4	1433	-			321			Myosin head-like 1.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.961G>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726693	0.69074	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.82984	-1.67;-1.67;-1.67	4.82	4.82	0.62117	Myosin head, motor domain (2);	.	.	.	.	D	0.94072	0.8100	H	0.98426	4.23	0.80722	D	1	D;D;P	0.53151	0.958;0.958;0.875	P;P;P	0.59703	0.862;0.862;0.785	D	0.96490	0.9363	9	0.87932	D	0	.	17.0417	0.86491	0.0:1.0:0.0:0.0	.	321;321;321	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	Q	321	ENSP00000348349:E321Q;ENSP00000399162:E321Q;ENSP00000398250:E321Q	ENSP00000261864:E321Q	E	-	1	0	MYO9A	70107163	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	7.450000	0.80656	2.355000	0.79922	0.462000	0.41574	GAG		0.299	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		20	111	0	0	0	1	0	20	111				
PKHD1	5314	broad.mit.edu	37	6	51484174	51484174	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr6:51484174G>A	ENST00000371117.3	-	67	12205	c.11930C>T	c.(11929-11931)tCc>tTc	p.S3977F	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000587000.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3977					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGCCCATGGGATGTGATGCC	0.557																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(11929-11931)tCc>tTc		polycystic kidney and hepatic disease 1 (autosomal recessive)							102.0	91.0	95.0					6																	51484174		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484174G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.11930C>T	6.37:g.51484174G>A	ENSP00000360158:p.Ser3977Phe					RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.1_RNA	p.S3977F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			67	12205	-	Lung NSC(77;0.0605)		3977					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.11930C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.577298	0.45902	.	.	ENSG00000170927	ENST00000371117	D	0.88509	-2.39	5.42	2.57	0.30868	.	0.165039	0.29389	N	0.012296	T	0.71813	0.3384	L	0.51422	1.61	0.09310	N	1	B	0.22414	0.069	B	0.17098	0.017	T	0.66524	-0.5902	10	0.87932	D	0	.	4.3989	0.11376	0.1849:0.0:0.6343:0.1808	.	3977	P08F94	PKHD1_HUMAN	F	3977	ENSP00000360158:S3977F	ENSP00000360158:S3977F	S	-	2	0	PKHD1	51592133	0.024000	0.19004	0.004000	0.12327	0.416000	0.31233	1.742000	0.38248	0.737000	0.32582	0.655000	0.94253	TCC		0.557	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		21	92	0	0	0	1	0	21	92				
COL24A1	255631	broad.mit.edu	37	1	86590619	86590619	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:86590619G>A	ENST00000370571.2	-	3	1766	c.1400C>T	c.(1399-1401)aCt>aTt	p.T467I	COL24A1_ENST00000436319.1_Missense_Mutation_p.T467I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	467					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)		ATAAAGCTCAGTTTCATAGCT	0.373																																						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.(1399-1401)aCt>aTt		collagen, type XXIV, alpha 1							77.0	70.0	72.0					1																	86590619		1826	4085	5911	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590619G>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.1400C>T	1.37:g.86590619G>A	ENSP00000359603:p.Thr467Ile					COL24A1_ENST00000436319.1_Missense_Mutation_p.T467I	p.T467I	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1766	-			467					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1400C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	7.492	0.650965	0.14516	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.95885	-3.84;-3.84	5.56	4.62	0.57501	.	0.585616	0.14276	N	0.329821	D	0.82664	0.5086	L	0.27053	0.805	0.23095	N	0.998309	B;B	0.24823	0.112;0.068	B;B	0.23716	0.048;0.009	T	0.73557	-0.3945	10	0.33940	T	0.23	.	4.9212	0.13871	0.1453:0.0:0.5365:0.3182	.	467;467	F8WDM8;Q17RW2	.;COOA1_HUMAN	I	467	ENSP00000359603:T467I;ENSP00000392531:T467I	ENSP00000359603:T467I	T	-	2	0	COL24A1	86363207	0.952000	0.32445	0.978000	0.43139	0.996000	0.88848	1.660000	0.37397	1.283000	0.44513	0.563000	0.77884	ACT		0.373	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		12	81	0	0	0	1	0	12	81				
SI	6476	broad.mit.edu	37	3	164730803	164730803	+	Missense_Mutation	SNP	T	T	A	rs369971127		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:164730803T>A	ENST00000264382.3	-	34	4089	c.4027A>T	c.(4027-4029)Ata>Tta	p.I1343L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1343	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTTTTATCTATTGTTATGTTG	0.338										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4027-4029)Ata>Tta		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						127.0	124.0	125.0					3																	164730803		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164730803T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4027A>T	3.37:g.164730803T>A	ENSP00000264382:p.Ile1343Leu	HNSCC(35;0.089)					p.I1343L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			34	4089	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1343			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4027A>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183636	0.57800	.	.	ENSG00000090402	ENST00000264382	D	0.88354	-2.37	4.35	4.35	0.52113	Glycoside hydrolase, superfamily (1);	0.060626	0.64402	D	0.000005	D	0.89536	0.6743	L	0.56769	1.78	0.27296	N	0.957704	P	0.42961	0.795	P	0.52957	0.714	D	0.83695	0.0179	10	0.62326	D	0.03	.	6.7375	0.23417	0.0:0.1797:0.0:0.8203	.	1343	P14410	SUIS_HUMAN	L	1343	ENSP00000264382:I1343L	ENSP00000264382:I1343L	I	-	1	0	SI	166213497	0.999000	0.42202	0.996000	0.52242	0.507000	0.33981	2.896000	0.48656	1.794000	0.52575	0.477000	0.44152	ATA		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		22	99	0	0	0	1	0	22	99				
DCAF4	26094	broad.mit.edu	37	14	73422295	73422295	+	Missense_Mutation	SNP	A	A	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr14:73422295A>G	ENST00000358377.2	+	12	1290	c.1070A>G	c.(1069-1071)aAt>aGt	p.N357S	DCAF4_ENST00000353777.3_Missense_Mutation_p.N187S|DCAF4_ENST00000509153.1_Missense_Mutation_p.N297S|DCAF4_ENST00000555042.1_Missense_Mutation_p.N351S|DCAF4_ENST00000394234.2_Missense_Mutation_p.N257S|DCAF4_ENST00000553457.1_Missense_Mutation_p.N257S	NM_001163509.1|NM_015604.3	NP_001156981.1|NP_056419.2	Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4	357					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CGTTGTGGAAATCAAGGCAAG	0.527																																						ENST00000553457.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						c.(769-771)aAt>aGt		DDB1 and CUL4 associated factor 4							207.0	195.0	199.0					14																	73422295		2203	4300	6503	SO:0001583	missense	26094					CUL4 RING ubiquitin ligase complex		g.chr14:73422295A>G	BC018979	CCDS9809.1, CCDS9810.1, CCDS41968.1, CCDS41968.2, CCDS55926.1	14q24.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000119599		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20229	protein-coding gene	gene with protein product			"""WD repeat domain 21"", ""WD repeat domain 21A"""	WDR21, WDR21A			Standard	NM_015604		Approved	DKFZp434K114	uc010ttr.2	Q8WV16		ENST00000358377.2:c.1070A>G	14.37:g.73422295A>G	ENSP00000351147:p.Asn357Ser					DCAF4_ENST00000353777.3_Missense_Mutation_p.N187S|DCAF4_ENST00000358377.2_Missense_Mutation_p.N357S|DCAF4_ENST00000555042.1_Missense_Mutation_p.N351S|DCAF4_ENST00000509153.1_Missense_Mutation_p.N297S|DCAF4_ENST00000394234.2_Missense_Mutation_p.N257S	p.N257S			Q8WV16	DCAF4_HUMAN			11	1060	+			357					B4DUT6|G3V522|Q86U31|Q8IV10|Q96K22|Q9Y4P5	Missense_Mutation	SNP	ENST00000358377.2	37	c.770A>G	CCDS9809.1	.	.	.	.	.	.	.	.	.	.	A	9.334	1.061359	0.19987	.	.	ENSG00000119599	ENST00000358377;ENST00000353777;ENST00000394234;ENST00000509153;ENST00000555042;ENST00000553457	T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08	5.64	1.71	0.24356	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.379623	0.34580	N	0.003856	T	0.10465	0.0256	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.15473	0.001;0.001;0.002;0.001;0.013;0.001	B;B;B;B;B;B	0.14578	0.002;0.004;0.005;0.005;0.011;0.002	T	0.31943	-0.9925	10	0.14656	T	0.56	.	5.3545	0.16053	0.4004:0.2568:0.3428:0.0	.	297;336;357;351;187;357	B4DUT6;B4DN30;Q8WV16-2;G3V522;Q86SY2;Q8WV16	.;.;.;.;.;DCAF4_HUMAN	S	357;187;257;297;351;257	ENSP00000351147:N357S;ENSP00000345176:N187S;ENSP00000377781:N257S;ENSP00000426178:N297S;ENSP00000452131:N351S;ENSP00000451186:N257S	ENSP00000345176:N187S	N	+	2	0	DCAF4	72492048	0.771000	0.28555	0.543000	0.28128	0.971000	0.66376	0.670000	0.25157	0.470000	0.27294	0.459000	0.35465	AAT		0.527	DCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361058.1	NM_015604		81	165	0	0	0	1	0	81	165				
TAS1R2	80834	broad.mit.edu	37	1	19183871	19183871	+	Missense_Mutation	SNP	G	G	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:19183871G>A	ENST00000375371.3	-	2	458	c.437C>T	c.(436-438)tCt>tTt	p.S146F	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	146					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGTCATGACAGACTCGGAGTT	0.572																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(436-438)tCt>tTt		taste receptor, type 1, member 2	Aspartame(DB00168)						108.0	88.0	95.0					1																	19183871		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19183871G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.437C>T	1.37:g.19183871G>A	ENSP00000364520:p.Ser146Phe					RP13-279N23.2_ENST00000494072.3_3'UTR	p.S146F	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	458	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	146					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.437C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	N	1.215	-0.628612	0.03610	.	.	ENSG00000179002	ENST00000375371	D	0.84660	-1.88	4.47	2.55	0.30701	Extracellular ligand-binding receptor (1);	0.757992	0.10820	U	0.630573	T	0.70753	0.3260	N	0.19112	0.55	0.09310	N	1	B	0.13594	0.008	B	0.18561	0.022	T	0.52990	-0.8501	10	0.09843	T	0.71	.	6.2822	0.21013	0.1058:0.1873:0.7068:0.0	.	146	Q8TE23	TS1R2_HUMAN	F	146	ENSP00000364520:S146F	ENSP00000364520:S146F	S	-	2	0	TAS1R2	19056458	0.020000	0.18652	0.005000	0.12908	0.063000	0.16089	2.110000	0.41873	0.334000	0.23590	0.466000	0.42574	TCT		0.572	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			5	64	0	0	0	1	0	5	64				
NUGGC	389643	broad.mit.edu	37	8	27917999	27917999	+	Silent	SNP	C	C	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr8:27917999C>T	ENST00000413272.2	-	8	1183	c.1041G>A	c.(1039-1041)agG>agA	p.R347R	NUGGC_ENST00000341513.6_Silent_p.R347R	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	347					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GGGCCACGTCCCTACAGAAGC	0.562											OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000413272.2																			0											c.(1039-1041)agG>agA		nuclear GTPase, germinal center associated							52.0	54.0	53.0					8																	27917999		1963	4133	6096	SO:0001819	synonymous_variant	389643							g.chr8:27917999C>T	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.1041G>A	8.37:g.27917999C>T			OREG0018675	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	99	NUGGC_ENST00000341513.6_Silent_p.R347R	p.R347R	NM_001010906.1	NP_001010906.1					8	1183	-								Q6ZP73	Silent	SNP	ENST00000413272.2	37	c.1041G>A	CCDS47833.1																																																																																				0.562	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	NM_001010906		8	28	0	0	0	1	0	8	28				
LIN54	132660	broad.mit.edu	37	4	83858433	83858433	+	Silent	SNP	C	C	T	rs369299740		TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr4:83858433C>T	ENST00000340417.3	-	9	1928	c.1551G>A	c.(1549-1551)tcG>tcA	p.S517S	LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000510557.1_Silent_p.S296S|LIN54_ENST00000442461.2_Silent_p.S296S|LIN54_ENST00000505397.1_Silent_p.S517S|LIN54_ENST00000506560.1_Silent_p.S428S|LIN54_ENST00000395283.2_Silent_p.S428S|LIN54_ENST00000446851.2_Silent_p.S296S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	517					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.S517S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GCCGACTGGCCGACTCTGATG	0.303																																						ENST00000340417.3																			1	Substitution - coding silent(1)	p.S517S(1)	kidney(1)	breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14						c.(1549-1551)tcG>tcA		lin-54 homolog (C. elegans)		C	,,	3,4403	6.2+/-15.9	0,3,2200	76.0	81.0	80.0		888,888,1551	1.5	1.0	4		80	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	LIN54	NM_001115007.1,NM_001115008.1,NM_194282.2	,,	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,,	296/529,296/529,517/750	83858433	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83858433C>T	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1551G>A	4.37:g.83858433C>T						LIN54_ENST00000506560.1_Silent_p.S428S|LIN54_ENST00000510557.1_Silent_p.S296S|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000505397.1_Silent_p.S517S|LIN54_ENST00000395283.2_Silent_p.S428S|LIN54_ENST00000446851.2_Silent_p.S296S|LIN54_ENST00000442461.2_Silent_p.S296S	p.S517S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN			9	1928	-		Hepatocellular(203;0.114)	517					Q32M68|Q32M69|Q6N071|Q76B60	Silent	SNP	ENST00000340417.3	37	c.1551G>A	CCDS3599.1																																																																																				0.303	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		20	87	0	0	0	1	0	20	87				
TTC37	9652	broad.mit.edu	37	5	94858013	94858013	+	Splice_Site	SNP	T	T	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr5:94858013T>A	ENST00000358746.2	-	19	2056		c.e19-2		RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37							cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GCCTGTAAACTAAAATTTAAA	0.338																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.e19-2		tetratricopeptide repeat domain 37							48.0	43.0	45.0					5																	94858013		2203	4300	6503	SO:0001630	splice_region_variant	9652						binding	g.chr5:94858013T>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1758-2A>T	5.37:g.94858013T>A								NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			19	2056	-								O15077|Q6PJI3	Splice_Site	SNP	ENST00000358746.2	37		CCDS4072.1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.143416	0.57044	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1447	0.65344	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC37	94883769	1.000000	0.71417	0.999000	0.59377	0.762000	0.43233	7.606000	0.82863	1.807000	0.52817	0.383000	0.25322	.		0.338	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639	Intron	3	17	0	0	0	1	0	3	17				
KCNN3	3782	broad.mit.edu	37	1	154842200	154842205	+	In_Frame_Del	DEL	GCTGCT	GCTGCT	-	rs58327065|rs367921715|rs572995536	byFrequency	TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr1:154842200_154842205delGCTGCT	ENST00000271915.4	-	1	551_556	c.236_241delAGCAGC	c.(235-243)cagcagcca>cca	p.QQ79del	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	79	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGATGCGGTGgctgctgctgctgctg	0.704																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(235-243)cca>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842200_154842205delGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.236_241delAGCAGC	1.37:g.154842206_154842211delGCTGCT	ENSP00000271915:p.Gln79_Gln80del						p.QQP79del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	551_556	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		79			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.236_241delAGCAGC	CCDS30880.1																																																																																				0.704	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		4	4						4	4	---	---	---	---
POMC	5443	broad.mit.edu	37	2	25384456	25384457	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs10654394	byFrequency	TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:25384456_25384457insGCCGCTGCT	ENST00000405623.1	-	3	752_753	c.297_298insAGCAGCGGC	c.(295-300)ggcgca>ggcAGCAGCGGCgca	p.98_99insGSS	POMC_ENST00000380794.1_In_Frame_Ins_p.98_99insGSS|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000264708.3_In_Frame_Ins_p.98_99insGSS|POMC_ENST00000395826.2_In_Frame_Ins_p.98_99insGSS			P01189	COLI_HUMAN	proopiomelanocortin	98			Missing. {ECO:0000269|PubMed:11244459, ECO:0000269|PubMed:7828531, ECO:0000269|PubMed:9768693}.		cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TTCTGCCCTGCgccgctgctgc	0.728														386	0.0770767	0.2027	0.0317	5008	,	,		17351	0.0		0.0427	False		,,,				2504	0.0542				Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	GRCh37	CI042901|CI984063	POMC	I	rs10654394	c.(295-300)ggcagg>ggAGCAGCGGCcagg		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)		,	619,2251		169,281,985					,	2.6	0.6		dbSNP_119	5	273,5657		76,121,2768	no	coding,coding	POMC	NM_001035256.1,NM_000939.2	,	245,402,3753	A1A1,A1R,RR		4.6037,21.5679,10.1364	,	,		892,7908				SO:0001652	inframe_insertion	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384456_25384457insGCCGCTGCT		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.289_297dupAGCAGCGGC	2.37:g.25384457_25384465dupGCCGCTGCT	ENSP00000384092:p.Gly96_Ser98dup					POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GR>GAAAR	p.99_100GR>GAAAR			P01189	COLI_HUMAN			3	752_753	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		99		Missing.			P78442|Q53T23|Q9UD39|Q9UD40	In_Frame_Ins	INS	ENST00000405623.1	37	c.297_298insAGCAGCGGC	CCDS1717.1																																																																																				0.728	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		7	10						7	10	---	---	---	---
HNRNPA1P57	101060039	broad.mit.edu	37	2	41383697	41383697	+	RNA	DEL	G	G	-	rs111828414	byFrequency	TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr2:41383697delG	ENST00000431359.1	+	0	312									heterogeneous nuclear ribonucleoprotein A1 pseudogene 57																		GGATGCCGCCGAAGAAGCATG	0.373																																						ENST00000431359.1																			0																																																			101060039							g.chr2:41383697delG			2p22.1	2013-09-20			ENSG00000237442	ENSG00000237442			48787	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000152297		2.37:g.41383697delG														0	312	+									RNA	DEL	ENST00000431359.1	37																																																																																						0.373	HNRNPA1P57-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470771.1			2	4						2	4	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169889137	169889138	+	Intron	INS	-	-	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr3:169889137_169889138insA	ENST00000494943.1	-	4	447				PHC3_ENST00000474275.1_Intron|PHC3_ENST00000481639.1_Frame_Shift_Ins_p.F142fs|PHC3_ENST00000497658.1_Frame_Shift_Ins_p.F146fs|PHC3_ENST00000467570.1_Intron|PHC3_ENST00000495893.2_Intron			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTAAATCCAGGAAAAAAAAATT	0.337																																						ENST00000497658.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(436-438)tctfs		polyhomeotic homolog 3 (Drosophila)																																				SO:0001627	intron_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169889137_169889138insA		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.378+22->T	3.37:g.169889146_169889146dupA						PHC3_ENST00000494943.1_Intron|PHC3_ENST00000474275.1_Intron|PHC3_ENST00000481639.1_Frame_Shift_Ins_p.S142fs|PHC3_ENST00000467570.1_Intron|PHC3_ENST00000495893.1_Intron	p.S146fs			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	454_455	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		782			Ser-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Frame_Shift_Ins	INS	ENST00000494943.1	37	c.437_438insT																																																																																					0.337	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		2	4						2	4	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187549909	187549910	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr4:187549909_187549910insA	ENST00000441802.2	-	8	4540_4541	c.4331_4332insT	c.(4330-4332)atcfs	p.I1444fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1444	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTATTACTTTGATGAATACCTG	0.312										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4330-4332)aaafs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549909_187549910insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4332dupT	4.37:g.187549910_187549910dupA	ENSP00000406229:p.Ile1444fs	HNSCC(5;0.00058)					p.K1444fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			8	4540_4541	-			1444			Cadherin 12.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.4331_4332insT	CCDS47177.1																																																																																				0.312	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		10	32						10	32	---	---	---	---
ABHD17B	51104	broad.mit.edu	37	9	74489702	74489703	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr9:74489702_74489703insA	ENST00000333421.6	-	2	405_406	c.294_295insT	c.(292-297)catggafs	p.G99fs	ABHD17B_ENST00000377041.2_Frame_Shift_Ins_p.G99fs	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	99						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										ACAGCATTTCCATGTGAGAAGA	0.366																																						ENST00000333421.6																			0											c.(292-297)cagaaafs		abhydrolase domain containing 17B																																				SO:0001589	frameshift_variant	51104							g.chr9:74489702_74489703insA	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.295dupT	9.37:g.74489703_74489703dupA	ENSP00000330222:p.Gly99fs					ABHD17B_ENST00000377041.2_Frame_Shift_Ins_p.QK98fs	p.QK98fs	NM_001025780.1	NP_001020951.1					2	405_406	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Frame_Shift_Ins	INS	ENST00000333421.6	37	c.294_295insT	CCDS35043.1																																																																																				0.366	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		25	96						25	96	---	---	---	---
WEE1	7465	broad.mit.edu	37	11	9608371	9608371	+	Frame_Shift_Del	DEL	T	T	-			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:9608371delT	ENST00000450114.2	+	10	2008	c.1755delT	c.(1753-1755)aatfs	p.N585fs	WEE1_ENST00000299613.6_Frame_Shift_Del_p.N371fs	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	585					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TAGAATTGAATGCCGAAAAGT	0.343																																						ENST00000299613.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23						c.(1111-1113)aafs		WEE1 G2 checkpoint kinase							45.0	47.0	46.0					11																	9608371		2201	4294	6495	SO:0001589	frameshift_variant	7465				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	g.chr11:9608371delT	X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1755delT	11.37:g.9608371delT	ENSP00000402084:p.Asn585fs					WEE1_ENST00000450114.2_Frame_Shift_Del_p.N585fs	p.N371fs	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN		all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)	10	1868	+			585			Protein kinase.		B3KVE1|D3DQV0	Frame_Shift_Del	DEL	ENST00000450114.2	37	c.1113delT	CCDS7800.1																																																																																				0.343	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386757.1	NM_003390		10	59						10	59	---	---	---	---
KAT5	10524	broad.mit.edu	37	11	65481075	65481077	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:65481075_65481077delGGA	ENST00000377046.3	+	6	725_727	c.453_455delGGA	c.(451-456)gtggag>gtg	p.E152del	KAT5_ENST00000341318.4_In_Frame_Del_p.E185del|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000352980.4_In_Frame_Del_p.E100del|KAT5_ENST00000530446.1_In_Frame_Del_p.E133del|KAT5_ENST00000534650.1_5'UTR	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	152					androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AACGGAAGGTGGAGGTGGTTTCA	0.542																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(550-555)gtg>gt		K(lysine) acetyltransferase 5																																				SO:0001651	inframe_deletion	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65481075_65481077delGGA	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.453_455delGGA	11.37:g.65481075_65481077delGGA	ENSP00000366245:p.Glu152del					KAT5_ENST00000352980.4_In_Frame_Del_p.VE99del|KAT5_ENST00000377046.3_In_Frame_Del_p.VE151del|KAT5_ENST00000525204.1_3'UTR|KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_In_Frame_Del_p.VE132del	p.VE184del	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			5	786_788	+			151					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	In_Frame_Del	DEL	ENST00000377046.3	37	c.552_554delGGA	CCDS31610.1																																																																																				0.542	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		14	69						14	69	---	---	---	---
PACS1	55690	broad.mit.edu	37	11	65838059	65838061	+	In_Frame_Del	DEL	GCA	GCA	-	rs75352646|rs369233658	byFrequency	TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:65838059_65838061delGCA	ENST00000320580.4	+	1	135_137	c.102_104delGCA	c.(100-105)ccgcag>ccg	p.Q40del	RP11-1167A19.2_ENST00000529036.1_5'Flank	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	40	Gly-rich.|Poly-Gln.				protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						agccgccgccgcagcagcagcag	0.793																																						ENST00000320580.4																		RBM14/PACS1(2)	0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						c.(100-105)ccg>cc		phosphofurin acidic cluster sorting protein 1				87,1885		23,41,922						1.8	0.0			3	226,4444		36,154,2145	no	coding	PACS1	NM_018026.2		59,195,3067	A1A1,A1R,RR		4.8394,4.4118,4.7124				313,6329				SO:0001651	inframe_deletion	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:65838059_65838061delGCA	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.102_104delGCA	11.37:g.65838068_65838070delGCA	ENSP00000316454:p.Gln40del						p.PQ34del	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN			1	135_137	+			34			Gly-rich.		Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	In_Frame_Del	DEL	ENST00000320580.4	37	c.102_104delGCA	CCDS8129.1																																																																																				0.793	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		2	4						2	4	---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126134870	126134871	+	Frame_Shift_Ins	INS	-	-	A			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr11:126134870_126134871insA	ENST00000332118.6	-	11	1662_1663	c.1508_1509insT	c.(1507-1509)atgfs	p.M503fs	SRPR_ENST00000532259.1_Frame_Shift_Ins_p.M475fs|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	503					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CAATGGCTTCCATGGCAATGCC	0.525																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1507-1509)agafs		signal recognition particle receptor (docking protein)																																				SO:0001589	frameshift_variant	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126134870_126134871insA	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1509dupT	11.37:g.126134871_126134871dupA	ENSP00000328023:p.Met503fs					SRPR_ENST00000532259.1_Frame_Shift_Ins_p.R475fs	p.R503fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	11	1662_1663	-	all_hematologic(175;0.145)		503					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Ins	INS	ENST00000332118.6	37	c.1508_1509insT	CCDS31717.1																																																																																				0.525	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		10	54						10	54	---	---	---	---
ACTR6	64431	broad.mit.edu	37	12	100613798	100613799	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr12:100613798_100613799insT	ENST00000188312.2	+	10	1700_1701	c.935_936insT	c.(934-939)cattttfs	p.HF312fs	ACTR6_ENST00000552376.1_Intron|ACTR6_ENST00000551617.1_Intron|ACTR6_ENST00000546902.1_Frame_Shift_Ins_p.HF230fs	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	312						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						ATGCAGCCGCATTTTTTTAAGA	0.376																																						ENST00000188312.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(934-936)cttfs		ARP6 actin-related protein 6 homolog (yeast)																																				SO:0001589	frameshift_variant	64431					cytoplasm|cytoskeleton		g.chr12:100613798_100613799insT	AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.942dupT	12.37:g.100613805_100613805dupT	ENSP00000188312:p.His312fs					ACTR6_ENST00000552376.1_Intron|ACTR6_ENST00000551617.1_Intron|ACTR6_ENST00000546902.1_Frame_Shift_Ins_p.L230fs	p.L312fs	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN			10	1700_1701	+			312					B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Frame_Shift_Ins	INS	ENST00000188312.2	37	c.935_936insT	CCDS9074.1																																																																																				0.376	ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496		19	68						19	68	---	---	---	---
METRN	79006	broad.mit.edu	37	16	767275	767276	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr16:767275_767276delGC	ENST00000568223.2	+	4	945_946	c.770_771delGC	c.(769-771)agcfs	p.S257fs	METRN_ENST00000568415.1_Frame_Shift_Del_p.S124fs	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	257					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				ATGGGCTGGAGCCGCTTTGGGG	0.713																																						ENST00000568223.2																			0				skin(1)	1						c.(769-771)afs		meteorin, glial cell differentiation regulator																																				SO:0001589	frameshift_variant	79006							g.chr16:767275_767276delGC	BC000662	CCDS10422.1	16p13.3	2008-02-05	2004-11-26	2004-12-01	ENSG00000103260	ENSG00000103260			14151	protein-coding gene	gene with protein product		610998	"""chromosome 16 open reading frame 23"""	C16orf23		15085178	Standard	NM_024042		Approved	MGC2601	uc002cjd.3	Q9UJH8	OTTHUMG00000047851	ENST00000568223.2:c.770_771delGC	16.37:g.767275_767276delGC	ENSP00000455068:p.Ser257fs					METRN_ENST00000568415.1_Frame_Shift_Del_p.S124fs	p.S257fs	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN			4	945_946	+		Hepatocellular(780;0.00335)	257					Q9UJH9	Frame_Shift_Del	DEL	ENST00000568223.2	37	c.770_771delGC	CCDS10422.1																																																																																				0.713	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109074.4	NM_024042		3	6						3	6	---	---	---	---
MIR193BHG	100129781	broad.mit.edu	37	16	14403341	14403341	+	lincRNA	DEL	C	C	-			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr16:14403341delC	ENST00000570945.1	+	0	310				MIR365A_ENST00000362260.1_RNA																							CCTTCTGGGTCCCTGGTAGAT	0.517																																						ENST00000570945.1																			0																																																			100129781							g.chr16:14403341delC																													16.37:g.14403341delC														0	310	+									RNA	DEL	ENST00000570945.1	37																																																																																						0.517	RP11-65J21.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436878.1			2	4						2	4	---	---	---	---
KRTAP1-3	81850	broad.mit.edu	37	17	39190707	39190708	+	Frame_Shift_Ins	INS	-	-	G			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr17:39190707_39190708insG	ENST00000344363.5	-	1	399_400	c.366_367insC	c.(364-369)ccctgcfs	p.C123fs		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	133						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACCACACAGCAGGGGGGCAGGC	0.678																																						ENST00000344363.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12						c.(364-369)ccgctgfs		keratin associated protein 1-3																																				SO:0001589	frameshift_variant	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190707_39190708insG	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.367dupC	17.37:g.39190713_39190713dupG	ENSP00000344420:p.Cys123fs						p.L123fs	NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	399_400	-		Breast(137;0.000496)	133					Q07628|Q8IUG0|Q9BYS2	Frame_Shift_Ins	INS	ENST00000344363.5	37	c.366_367insC	CCDS42323.1																																																																																				0.678	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			12	36						12	36	---	---	---	---
STK4	6789	broad.mit.edu	37	20	43615932	43615933	+	Frame_Shift_Ins	INS	-	-	T			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chr20:43615932_43615933insT	ENST00000372806.3	+	5	615_616	c.520_521insT	c.(520-522)cttfs	p.L174fs	STK4_ENST00000372801.1_Frame_Shift_Ins_p.L174fs|STK4_ENST00000499879.2_Intron|STK4_ENST00000396731.4_Frame_Shift_Ins_p.L174fs	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AGCAGGTCAACTTACAGTAAGT	0.297																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(520-522)tacfs		serine/threonine kinase 4																																				SO:0001589	frameshift_variant	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43615932_43615933insT		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.522dupT	20.37:g.43615934_43615934dupT	ENSP00000361892:p.Leu174fs					STK4_ENST00000372801.1_Frame_Shift_Ins_p.Y174fs|STK4_ENST00000499879.2_Intron|STK4_ENST00000396731.4_Frame_Shift_Ins_p.Y174fs	p.Y174fs	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			5	615_616	+		Myeloproliferative disorder(115;0.0122)	174			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Frame_Shift_Ins	INS	ENST00000372806.3	37	c.520_521insT	CCDS13341.1																																																																																				0.297	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		11	46						11	46	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578866	154578866	+	RNA	DEL	T	T	-			TCGA-4P-AA8J-01A-11D-A391-08	TCGA-4P-AA8J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0fe5f8b2-c794-4c93-b2ab-0b544e366f5c	8713028f-5a09-4f4a-8202-cf52b1834ed1	g.chrX:154578866delT	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTCTCTCTGTTTTTTTTTTT	0.418														73	0.0193377	0.0121	0.0086	3775	,	,		10483	0.0139		0.0149	False		,,,				2504	0.0225					ENST00000412436.1																			0																																																			0							g.chrX:154578866delT																													X.37:g.154578866delT						RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			2	4						2	4	---	---	---	---
