#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu	37	7	48634311	48634311	+	Silent	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr7:48634311G>A	ENST00000435803.1	+	58	14670	c.14646G>A	c.(14644-14646)gaG>gaA	p.E4882E	ABCA13_ENST00000544596.1_Silent_p.E612E	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4882	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E4882E(1)|p.E4827E(1)		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						TTCAGGATGAGCCCAGCTCTG	0.493																																																	2	Substitution - coding silent(2)	kidney(2)											119.0	117.0	118.0					7																	48634311		1934	4146	6080	SO:0001819	synonymous_variant	154664			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.14646G>A	7.37:g.48634311G>A		Somatic		WXS	Illumina HiSeq	Phase_I	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701	
AQR	9716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	35196663	35196663	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr15:35196663A>T	ENST00000156471.5	-	19	2100	c.1875T>A	c.(1873-1875)ttT>ttA	p.F625L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	625					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F625L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAAACACTCTAAATGTCCTTG	0.308																																																	1	Substitution - Missense(1)	kidney(1)											97.0	89.0	91.0					15																	35196663		1813	4075	5888	SO:0001583	missense	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1875T>A	15.37:g.35196663A>T	ENSP00000156471:p.Phe625Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	39	7.308871	0.98203	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.92647	-3.08	5.26	4.13	0.48395	.	0.139866	0.64402	D	0.000004	T	0.81408	0.4816	N	0.21282	0.65	0.40236	D	0.977902	B	0.15473	0.013	B	0.18871	0.023	T	0.71580	-0.4550	10	0.02654	T	1	-19.8143	6.6416	0.22913	0.7755:0.0:0.2245:0.0	.	625	O60306	AQR_HUMAN	L	625	ENSP00000156471:F625L	ENSP00000156471:F625L	F	-	3	2	AQR	32983955	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.635000	0.46537	2.117000	0.64856	0.533000	0.62120	TTT		0.308	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2		NM_014691	
BBS1	582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66291217	66291217	+	Missense_Mutation	SNP	A	A	C	rs199986163		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr11:66291217A>C	ENST00000318312.7	+	11	1025	c.974A>C	c.(973-975)cAg>cCg	p.Q325P	BBS1_ENST00000455748.2_Missense_Mutation_p.Q228P|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Intron|CTD-3074O7.11_ENST00000419755.3_Missense_Mutation_p.Q362P	NM_024649.4	NP_078925.3	Q8NFJ9	BBS1_HUMAN	Bardet-Biedl syndrome 1	325					cilium assembly (GO:0042384)|Golgi to plasma membrane protein transport (GO:0043001)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	patched binding (GO:0005113)|RNA polymerase II repressing transcription factor binding (GO:0001103)|smoothened binding (GO:0005119)	p.Q325P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						TGGACAGTGCAGATGCCCGCA	0.617									Bardet-Biedl syndrome																												GBM(152;173 2612 9770 10137)												1	Substitution - Missense(1)	kidney(1)											50.0	43.0	45.0					11																	66291217		2200	4295	6495	SO:0001583	missense	582	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF503941	CCDS8142.1	11q13	2013-01-08			ENSG00000174483	ENSG00000174483			966	protein-coding gene	gene with protein product		209901				9039982, 12567324	Standard	NM_024649		Approved	FLJ23590	uc001oij.1	Q8NFJ9	OTTHUMG00000167110	ENST00000318312.7:c.974A>C	11.37:g.66291217A>C	ENSP00000317469:p.Gln325Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q32MM9|Q32MN0|Q96SN4	Missense_Mutation	SNP	ENST00000318312.7	37	CCDS8142.1	.	.	.	.	.	.	.	.	.	.	A	11.04	1.520597	0.27211	.	.	ENSG00000256349;ENSG00000174483;ENSG00000174483	ENST00000419755;ENST00000318312;ENST00000455748	T;T;T	0.57273	0.41;0.41;0.41	5.53	2.86	0.33363	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	.	.	.	.	T	0.28433	0.0703	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.001;0.0;0.001	T	0.03139	-1.1068	9	0.30078	T	0.28	.	12.3305	0.55038	0.3692:0.6308:0.0:0.0	.	228;213;325;362	E7EQH1;Q4G0L2;Q8NFJ9;Q8NFJ9-2	.;.;BBS1_HUMAN;.	P	362;325;228	ENSP00000398526:Q362P;ENSP00000317469:Q325P;ENSP00000405764:Q228P	ENSP00000317469:Q325P	Q	+	2	0	BBS1;CTD-3074O7.11	66047793	0.008000	0.16893	1.000000	0.80357	0.995000	0.86356	0.162000	0.16501	0.355000	0.24131	0.533000	0.62120	CAG		0.617	BBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393235.2			
KIAA0930	23313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	45607978	45607978	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr22:45607978C>G	ENST00000336156.5	-	2	140	c.75G>C	c.(73-75)aaG>aaC	p.K25N	KIAA0930_ENST00000492273.1_Missense_Mutation_p.K30N|KIAA0930_ENST00000443310.3_Missense_Mutation_p.K7N|KIAA0930_ENST00000496226.1_Missense_Mutation_p.K34N|KIAA0930_ENST00000251993.7_Missense_Mutation_p.K30N|KIAA0930_ENST00000391627.2_5'UTR	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	25								p.K30N(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TGCGGTCATCCTTGAAGCACC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											52.0	50.0	51.0					22																	45607978		2202	4300	6502	SO:0001583	missense	0			AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.75G>C	22.37:g.45607978C>G	ENSP00000336720:p.Lys25Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820947	0.71028	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000443310;ENST00000424508	.	.	.	5.33	2.08	0.27032	.	0.146272	0.64402	D	0.000013	T	0.55433	0.1920	L	0.50333	1.59	0.54753	D	0.99998	B;P;B;B	0.39717	0.049;0.684;0.277;0.324	B;P;B;B	0.46049	0.057;0.502;0.155;0.241	T	0.56956	-0.7893	9	0.87932	D	0	-20.0148	8.875	0.35340	0.0:0.6376:0.0:0.3624	.	7;25;30;96	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	N	25;30;7;7	.	ENSP00000251993:K30N	K	-	3	2	KIAA0930	43986642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.947000	0.29082	0.637000	0.30526	0.561000	0.74099	AAG		0.602	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2		NM_001009880	
PTCHD4	442213	broad.mit.edu;ucsc.edu	37	6	48035980	48035980	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:48035980C>A	ENST00000339488.4	-	1	445	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	PTCHD4_ENST00000543600.1_Missense_Mutation_p.V121L	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	138						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.V138L(1)									ATTTCCAGCACGGCTCGGTGG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											89.0	93.0	92.0					6																	48035980		1867	4105	5972	SO:0001583	missense	0				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.412G>T	6.37:g.48035980C>A	ENSP00000341914:p.Val138Leu	Somatic		WXS	Illumina GAIIx	Phase_I	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	CCDS34473.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.26|15.26	2.782215|2.782215	0.49891|0.49891	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000398738|ENST00000339488;ENST00000543600	.|D;T	.|0.93763	.|-3.28;0.32	5.13|5.13	4.27|4.27	0.50696|0.50696	.|.	.|0.067843	.|0.64402	.|D	.|0.000011	D|D	0.87485|0.87485	0.6189|0.6189	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|P;B	.|0.49447	.|0.924;0.186	.|P;B	.|0.48840	.|0.592;0.071	D|D	0.86811|0.86811	0.1998|0.1998	5|10	.|0.08599	.|T	.|0.76	.|.	15.8072|15.8072	0.78524|0.78524	0.0:0.8634:0.1366:0.0|0.0:0.8634:0.1366:0.0	.|.	.|138;121	.|Q6ZW05;B0QZ29	.|CF138_HUMAN;.	L|L	137|138;121	.|ENSP00000341914:V138L;ENSP00000439864:V121L	.|ENSP00000341914:V138L	R|V	-|-	2|1	0|0	C6orf138|C6orf138	48143939|48143939	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.401000|7.401000	0.79962|0.79962	1.160000|1.160000	0.42584|0.42584	-0.216000|-0.216000	0.12614|0.12614	CGT|GTG		0.498	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2		NM_001013732	
CACNA1H	8912	broad.mit.edu	37	16	1257814	1257814	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr16:1257814C>T	ENST00000348261.5	+	15	3356	c.3108C>T	c.(3106-3108)gtC>gtT	p.V1036V	RP11-616M22.3_ENST00000564700.1_RNA|CACNA1H_ENST00000358590.4_Silent_p.V1036V|CACNA1H_ENST00000565831.1_Silent_p.V1036V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1036					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.V1036V(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGACGTCGGTCCACTTCGAGG	0.622																																																	2	Substitution - coding silent(2)	kidney(2)											60.0	62.0	61.0					16																	1257814		2078	4187	6265	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3108C>T	16.37:g.1257814C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.622	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1		NM_001005407	
CAGE1	285782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	7373333	7373333	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:7373333C>T	ENST00000512086.1	-	5	1921	c.1719G>A	c.(1717-1719)gaG>gaA	p.E573E	CAGE1_ENST00000379918.4_Silent_p.E573E|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000338150.4_Silent_p.E573E|CAGE1_ENST00000296742.7_Silent_p.E437E|CAGE1_ENST00000502583.1_Silent_p.E573E			Q8TC20	CAGE1_HUMAN	cancer antigen 1	573								p.E573E(2)|p.E437E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TCAAGACTTCCTCTAATTGAT	0.348																																																	3	Substitution - coding silent(3)	kidney(3)											124.0	107.0	112.0					6																	7373333		1850	4084	5934	SO:0001819	synonymous_variant	285782			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1719G>A	6.37:g.7373333C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP	ENST00000512086.1	37																																																																																					0.348	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1		NM_175745	
CCDC80	151887	hgsc.bcm.edu;ucsc.edu	37	3	112357355	112357356	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr3:112357355_112357356insT	ENST00000206423.3	-	2	2350_2351	c.1397_1398insA	c.(1396-1398)aacfs	p.N466fs	CCDC80_ENST00000439685.2_Frame_Shift_Ins_p.N466fs|CCDC80_ENST00000475181.1_5'Flank	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	466					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TGTCCATGCGGTTGTCCCGGAA	0.609																																																	0																																										SO:0001589	frameshift_variant	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1398dupA	3.37:g.112357357_112357357dupT	ENSP00000206423:p.Asn466fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Frame_Shift_Ins	INS	ENST00000206423.3	37	CCDS2968.1																																																																																				0.609	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1		NM_199511	
CD180	4064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66481767	66481767	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr5:66481767A>C	ENST00000256447.4	-	2	326	c.169T>G	c.(169-171)Ttt>Gtt	p.F57V		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	57					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F57V(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AATTCCAAAAATTCTGTTGTG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											89.0	93.0	92.0					5																	66481767		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.169T>G	5.37:g.66481767A>C	ENSP00000256447:p.Phe57Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	A	8.231	0.804708	0.16467	.	.	ENSG00000134061	ENST00000256447	T	0.78816	-1.21	5.54	-7.89	0.01174	.	1.033940	0.07673	N	0.935740	T	0.56819	0.2011	L	0.27053	0.805	0.23936	N	0.996417	B	0.02656	0.0	B	0.01281	0.0	T	0.43310	-0.9399	10	0.14252	T	0.57	.	8.6937	0.34282	0.1474:0.4345:0.0:0.4181	.	57	Q99467	CD180_HUMAN	V	57	ENSP00000256447:F57V	ENSP00000256447:F57V	F	-	1	0	CD180	66517523	0.073000	0.21202	0.892000	0.35008	0.471000	0.32888	-1.005000	0.03674	-0.986000	0.03498	-0.527000	0.04329	TTT		0.338	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2		NM_005582	
CD300LG	146894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41926061	41926061	+	Missense_Mutation	SNP	G	G	A	rs373847576		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr17:41926061G>A	ENST00000317310.4	+	2	220	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CD300LG_ENST00000586233.1_Missense_Mutation_p.R60H|CD300LG_ENST00000588884.1_Missense_Mutation_p.R60H|CD300LG_ENST00000377203.4_Missense_Mutation_p.R60H|CD300LG_ENST00000293396.8_Missense_Mutation_p.R60H|CD300LG_ENST00000539718.1_Missense_Mutation_p.R60H	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	60	Ig-like V-type.				immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R60H(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTCTTCTCTCGCTGCTCTGGC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											91.0	75.0	80.0					17																	41926061		2203	4300	6503	SO:0001583	missense	146894			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.179G>A	17.37:g.41926061G>A	ENSP00000321005:p.Arg60His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459212	0.26248	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	4.89	0.623	0.17654	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324515	0.22782	N	0.055706	T	0.03348	0.0097	L	0.38692	1.165	0.09310	N	1	B;P;P;B;P;B	0.44478	0.125;0.836;0.49;0.078;0.836;0.424	B;B;B;B;B;B	0.34536	0.052;0.177;0.099;0.038;0.177;0.185	T	0.42582	-0.9443	10	0.52906	T	0.07	-0.2003	7.5241	0.27645	0.3599:0.0:0.6401:0.0	.	60;60;60;60;60;60	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2;B4DNY5	.;.;.;CLM9_HUMAN;.;.	H	60	ENSP00000321005:R60H;ENSP00000442368:R60H;ENSP00000366408:R60H;ENSP00000293396:R60H	ENSP00000293396:R60H	R	+	2	0	CD300LG	39281587	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	0.130000	0.15850	-0.019000	0.14055	-0.136000	0.14681	CGC		0.592	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1		NM_145273	
CDCA2	157313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	25327412	25327412	+	Splice_Site	SNP	A	A	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr8:25327412A>G	ENST00000330560.3	+	7	1213	c.736A>G	c.(736-738)Ata>Gta	p.I246V	CDCA2_ENST00000380665.3_Splice_Site_p.I231V	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	246					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I246V(1)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTCCCCAAGATATCATCTAA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											88.0	90.0	89.0					8																	25327412		2203	4300	6503	SO:0001630	splice_region_variant	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.736-1A>G	8.37:g.25327412A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	4.761	0.141447	0.09083	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.29655	1.56;1.56	4.9	2.57	0.30868	.	0.424216	0.22692	N	0.056809	T	0.12646	0.0307	N	0.08118	0	0.19775	N	0.999952	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22765	-1.0207	9	.	.	.	-14.3889	5.9811	0.19407	0.7988:0.0:0.2012:0.0	.	246;231;246	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	V	246;231	ENSP00000328228:I246V;ENSP00000370040:I231V	.	I	+	1	0	CDCA2	25383329	1.000000	0.71417	0.931000	0.37212	0.117000	0.20001	1.117000	0.31234	1.003000	0.39130	0.528000	0.53228	ATA		0.333	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3		NM_152562	Missense_Mutation
CHIT1	1118	hgsc.bcm.edu	37	1	203188855	203188856	+	Frame_Shift_Ins	INS	-	-	G	rs546717884		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:203188855_203188856insG	ENST00000367229.1	-	8	885_886	c.851_852insC	c.(850-852)ccafs	p.P284fs	CHIT1_ENST00000535569.1_Frame_Shift_Ins_p.P275fs|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Frame_Shift_Ins_p.P265fs	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	284					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						ACCCTGTGGCTGGGGCCCCCAC	0.599																																																	0																																										SO:0001589	frameshift_variant	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.852dupC	1.37:g.203188859_203188859dupG	ENSP00000356198:p.Pro284fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Frame_Shift_Ins	INS	ENST00000367229.1	37	CCDS1436.1																																																																																				0.599	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2		NM_003465	
CLSTN1	22883	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	9801267	9801267	+	Silent	SNP	C	C	T	rs149205224		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:9801267C>T	ENST00000377298.4	-	10	2196	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	CLSTN1_ENST00000377288.3_Silent_p.P468P|CLSTN1_ENST00000361311.4_Silent_p.P458P	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	468					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)	p.P468P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAGTCACACTCGGGAATTCTA	0.527																																																	1	Substitution - coding silent(1)	kidney(1)						C	,	0,4406		0,0,2203	155.0	140.0	145.0		1404,1374	-10.7	0.0	1	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CLSTN1	NM_001009566.1,NM_014944.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	468/982,458/972	9801267	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1404G>A	1.37:g.9801267C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	ENST00000377298.4	37	CCDS30580.1																																																																																				0.527	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			
CNOT10	25904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	32750281	32750281	+	Silent	SNP	T	T	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr3:32750281T>A	ENST00000328834.5	+	4	715	c.399T>A	c.(397-399)ggT>ggA	p.G133G	CNOT10_ENST00000538368.1_5'UTR|CNOT10_ENST00000331889.6_Silent_p.G133G|CNOT10_ENST00000454516.2_Silent_p.G193G	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	133					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G133G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TATCAGTTGGTGAAAAACTTT	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	109.0	110.0					3																	32750281		2203	4300	6503	SO:0001819	synonymous_variant	25904			BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.399T>A	3.37:g.32750281T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Silent	SNP	ENST00000328834.5	37	CCDS2655.1																																																																																				0.353	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2		NM_015442	
COX7A2	1347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	75947673	75947673	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:75947673C>T	ENST00000230459.4	-	4	418	c.225G>A	c.(223-225)gtG>gtA	p.V75V	COX7A2_ENST00000460985.1_Silent_p.V45V|COX7A2_ENST00000472311.2_Nonsense_Mutation_p.W47*|COX7A2_ENST00000370089.2_Silent_p.V107V|COX7A2_ENST00000509698.1_Silent_p.V83V|COX7A2_ENST00000370081.2_Silent_p.V107V	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	75						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.V75V(1)		kidney(2)|lung(1)	3						GAAATGAAGCCACAGCCAGCT	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	48.0	49.0					6																	75947673		2203	4300	6503	SO:0001819	synonymous_variant	1347			X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.225G>A	6.37:g.75947673C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Silent	SNP	ENST00000230459.4	37		.	.	.	.	.	.	.	.	.	.	C	13.88	2.368645	0.42003	.	.	ENSG00000112695	ENST00000472311	.	.	.	5.7	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6781	8.1006	0.30854	0.1595:0.7598:0.0:0.0807	.	.	.	.	X	47	.	ENSP00000423432:W47X	W	-	2	0	COX7A2	76004393	0.404000	0.25328	0.996000	0.52242	0.591000	0.36615	0.417000	0.21214	2.678000	0.91216	0.655000	0.94253	TGG		0.358	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001865	
CPNE7	27132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	89657544	89657544	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr16:89657544G>A	ENST00000268720.5	+	15	1533	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	CPNE7_ENST00000319518.8_Missense_Mutation_p.G393D	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	468	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)	transporter activity (GO:0005215)	p.G468D(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGCATCCAGGGCGTGGTGGAG	0.706																																																	1	Substitution - Missense(1)	kidney(1)											25.0	27.0	26.0					16																	89657544		2196	4296	6492	SO:0001583	missense	27132			AJ133798	CCDS10980.1, CCDS10981.1	16q24.3	2008-07-03			ENSG00000178773	ENSG00000178773			2320	protein-coding gene	gene with protein product		605689					Standard	NM_014427		Approved		uc002fnq.3	Q9UBL6	OTTHUMG00000138051	ENST00000268720.5:c.1403G>A	16.37:g.89657544G>A	ENSP00000268720:p.Gly468Asp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000268720.5	37	CCDS10980.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252622	0.80135	.	.	ENSG00000178773	ENST00000319518;ENST00000268720;ENST00000529800	T;T;T	0.25579	1.79;1.79;1.79	3.9	3.9	0.45041	von Willebrand factor, type A (2);Copine (1);	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72377	-0.4312	10	0.87932	D	0	-0.0078	15.8474	0.78903	0.0:0.0:1.0:0.0	.	393;468	Q9UBL6-2;Q9UBL6	.;CPNE7_HUMAN	D	393;468;113	ENSP00000317374:G393D;ENSP00000268720:G468D;ENSP00000435876:G113D	ENSP00000268720:G468D	G	+	2	0	CPNE7	88185045	1.000000	0.71417	0.969000	0.41365	0.804000	0.45430	7.324000	0.79115	1.885000	0.54596	0.556000	0.70494	GGC		0.706	CPNE7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269929.2			
GBA2	57704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35736114	35736114	+	IGR	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr9:35736114C>T	ENST00000378103.3	-	0	3611				GBA2_ENST00000467252.1_5'Flank|CREB3_ENST00000353704.2_Silent_p.S227S|CREB3_ENST00000486056.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.S227S(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCAGCAGCAGCACCTGCA	0.498											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											172.0	152.0	159.0					9																	35736114		2203	4300	6503	SO:0001628	intergenic_variant	10488			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35736114C>T		Somatic	857	WXS	Illumina HiSeq	Phase_I	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	CCDS6589.1																																																																																				0.498	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1		NM_020944	
CYP1A2	1544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75042328	75042328	+	Silent	SNP	G	G	A	rs17861153	byFrequency	TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr15:75042328G>A	ENST00000343932.4	+	2	312	c.249G>A	c.(247-249)acG>acA	p.T83T		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	83			T -> M (in allele CYP1A2*9). {ECO:0000269|PubMed:14563787}.		alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.T83T(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	TTGGCTCCACGCCCGTGCTGG	0.667																																																	1	Substitution - coding silent(1)	kidney(1)						G		2,4392	4.2+/-10.8	0,2,2195	51.0	46.0	47.0		249	-9.9	0.0	15	dbSNP_123	47	13,8579	9.8+/-36.6	0,13,4283	no	coding-synonymous	CYP1A2	NM_000761.3		0,15,6478	AA,AG,GG		0.1513,0.0455,0.1155		83/517	75042328	15,12971	2197	4296	6493	SO:0001819	synonymous_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.249G>A	15.37:g.75042328G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	ENST00000343932.4	37	CCDS32293.1																																																																																				0.667	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2		NM_000761	
CYP39A1	51302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	46563727	46563727	+	Silent	SNP	A	A	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:46563727A>T	ENST00000275016.2	-	8	1265	c.1062T>A	c.(1060-1062)atT>atA	p.I354I		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	354					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)	p.I354I(1)	EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AGCTTACCAAAATTTCCACAG	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	103.0	101.0					6																	46563727		2203	4300	6503	SO:0001819	synonymous_variant	51302			AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1062T>A	6.37:g.46563727A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VTT0|Q96FW5	Silent	SNP	ENST00000275016.2	37	CCDS4916.1																																																																																				0.338	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			
DENND2C	163259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	115144173	115144173	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:115144173A>C	ENST00000393274.1	-	13	2396	c.1771T>G	c.(1771-1773)Tac>Gac	p.Y591D	DENND2C_ENST00000393277.1_Missense_Mutation_p.Y591D|DENND2C_ENST00000393276.3_Missense_Mutation_p.Y534D|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	591	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Y534D(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCATGCAGTATACCTCAGGG	0.363																																																	1	Substitution - Missense(1)	kidney(1)											191.0	203.0	199.0					1																	115144173		2203	4300	6503	SO:0001583	missense	163259				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1771T>G	1.37:g.115144173A>C	ENSP00000376955:p.Tyr591Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B1AL26|Q5TCX6|Q6P3R3	Missense_Mutation	SNP	ENST00000393274.1	37	CCDS58018.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.135730	0.77662	.	.	ENSG00000175984	ENST00000393276;ENST00000393274;ENST00000369540;ENST00000393277	T;T;T	0.13089	2.62;2.62;2.62	5.54	5.54	0.83059	DENN (3);	0.055869	0.64402	D	0.000001	T	0.33147	0.0853	M	0.89214	3.015	0.54753	D	0.999986	P;P	0.49559	0.848;0.925	P;P	0.60682	0.875;0.878	T	0.32929	-0.9888	10	0.87932	D	0	.	15.73	0.77794	1.0:0.0:0.0:0.0	.	591;534	Q68D51;Q68D51-3	DEN2C_HUMAN;.	D	534;591;591;591	ENSP00000376957:Y534D;ENSP00000376955:Y591D;ENSP00000376958:Y591D	ENSP00000358553:Y591D	Y	-	1	0	DENND2C	114945696	1.000000	0.71417	0.943000	0.38184	0.841000	0.47740	4.696000	0.61774	2.129000	0.65627	0.477000	0.44152	TAC		0.363	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1		NM_198459	
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	41450747	41450747	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr21:41450747C>A	ENST00000400454.1	-	26	5055	c.4578G>T	c.(4576-4578)agG>agT	p.R1526S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1526	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R1526S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGAGAGAGGTCCTCTGAGCTG	0.582																																					Melanoma(134;970 1778 1785 21664 32388)												1	Substitution - Missense(1)	kidney(1)											53.0	60.0	58.0					21																	41450747		2121	4241	6362	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4578G>T	21.37:g.41450747C>A	ENSP00000383303:p.Arg1526Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.044390	0.36085	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.57107	0.42;0.42	4.85	-1.67	0.08238	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058825	0.64402	D	0.000001	T	0.31513	0.0799	L	0.47190	1.495	0.38686	D	0.952655	P	0.40578	0.722	B	0.37015	0.239	T	0.22068	-1.0227	10	0.15499	T	0.54	.	2.0431	0.03554	0.1075:0.337:0.2134:0.3421	.	1526	O60469	DSCAM_HUMAN	S	1526;1278	ENSP00000383303:R1526S;ENSP00000385342:R1278S	ENSP00000383303:R1526S	R	-	3	2	DSCAM	40372617	0.439000	0.25610	0.992000	0.48379	0.886000	0.51366	-0.280000	0.08468	-0.291000	0.09012	-0.251000	0.11542	AGG		0.582	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389	
EIF4G3	8672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	21221941	21221941	+	Silent	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:21221941G>A	ENST00000264211.8	-	11	2079	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L	EIF4G3_ENST00000602326.1_Silent_p.L635L|EIF4G3_ENST00000374937.3_Silent_p.L635L|EIF4G3_ENST00000536266.1_Silent_p.L233L|EIF4G3_ENST00000400422.1_Silent_p.L629L|EIF4G3_ENST00000374935.3_Silent_p.L349L|EIF4G3_ENST00000544689.1_Silent_p.L172L|EIF4G3_ENST00000537738.1_Silent_p.L82L|EIF4G3_ENST00000374933.3_5'UTR	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	629	EIF4E-binding. {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.L629L(1)|p.L635L(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGTCCAGCAGAAACTCCCTG	0.458																																																	2	Substitution - coding silent(2)	kidney(2)											112.0	111.0	111.0					1																	21221941		2203	4300	6503	SO:0001819	synonymous_variant	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1885C>T	1.37:g.21221941G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	CCDS214.1																																																																																				0.458	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760	
FBXL13	222235	hgsc.bcm.edu;ucsc.edu	37	7	102517966	102517966	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr7:102517966delT	ENST00000313221.4	-	16	2009	c.1583delA	c.(1582-1584)aacfs	p.N528fs	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Frame_Shift_Del_p.N528fs|FBXL13_ENST00000455112.2_Frame_Shift_Del_p.N528fs|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Frame_Shift_Del_p.N528fs|FBXL13_ENST00000393772.2_Frame_Shift_Del_p.N528fs|FBXL13_ENST00000379308.3_Frame_Shift_Del_p.N528fs	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	528										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GGAAAAGATGTTTACAATATA	0.303																																																	0													77.0	80.0	79.0					7																	102517966		2203	4294	6497	SO:0001589	frameshift_variant	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1583delA	7.37:g.102517966delT	ENSP00000321927:p.Asn528fs	Somatic		WXS	Illumina HiSeq	Phase_I	C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Frame_Shift_Del	DEL	ENST00000313221.4	37	CCDS5726.1																																																																																				0.303	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1		NM_145032	
GPLD1	2822	hgsc.bcm.edu;ucsc.edu	37	6	24473886	24473886	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:24473886G>A	ENST00000230036.1	-	6	561	c.451C>T	c.(451-453)Cac>Tac	p.H151Y	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	151					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TAGGAGCCGTGAAAATCAATC	0.398																																																	0													47.0	46.0	47.0					6																	24473886		2203	4300	6503	SO:0001583	missense	2822			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.451C>T	6.37:g.24473886G>A	ENSP00000230036:p.His151Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920305	0.33908	.	.	ENSG00000112293	ENST00000230036;ENST00000378243	T	0.38240	1.15	5.04	4.16	0.48862	.	0.157646	0.44097	N	0.000499	T	0.11580	0.0282	L	0.35793	1.09	0.30262	N	0.793078	B;B	0.22541	0.002;0.071	B;B	0.25759	0.002;0.063	T	0.15549	-1.0433	10	0.27082	T	0.32	-15.2608	8.155	0.31162	0.1897:0.0:0.8103:0.0	.	151;151	P80108-2;P80108	.;PHLD_HUMAN	Y	151	ENSP00000230036:H151Y	ENSP00000230036:H151Y	H	-	1	0	GPLD1	24581865	1.000000	0.71417	0.973000	0.42090	0.736000	0.42039	3.712000	0.54875	1.072000	0.40860	0.557000	0.71058	CAC		0.398	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1		NM_001503	
HLA-B	3106	hgsc.bcm.edu	37	6	31324051	31324051	+	Missense_Mutation	SNP	C	C	A	rs41551018	byFrequency	TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:31324051C>A	ENST00000412585.2	-	3	540	c.512G>T	c.(511-513)tGg>tTg	p.W171L		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	171	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCCGCCTCCCACTTGCGCTG	0.667									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				C|||	340	0.0678914	0.0749	0.0576	5008	,	,		12515	0.12		0.0577	False		,,,				2504	0.0225																0								C	LEU/TRP	195,4123		0,195,1964	29.0	20.0	23.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	512	1.3	0.3	6	dbSNP_127	23	375,8059		5,365,3847	no	missense	HLA-B	NM_005514.6	61	5,560,5811	AA,AC,CC		4.4463,4.516,4.4699		171/363	31324051	570,12182	2159	4217	6376	SO:0001583	missense	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.512G>T	6.37:g.31324051C>A	ENSP00000399168:p.Trp171Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	CCDS34394.1	163	0.07463369963369963	36	0.07317073170731707	19	0.052486187845303865	68	0.11888111888111888	40	0.052770448548812667	N	9.115	1.007573	0.19199	0.04516	0.044463	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	T;T	0.00015	9.14;9.14	3.18	1.3	0.21679	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (2);MHC class I-like antigen recognition (2);	0.000000	0.37012	U	0.002282	T	0.00073	0.0002	M	0.86740	2.835	0.31286	P	0.6900200000000001	P;B	0.48230	0.907;0.01	B;B	0.40741	0.339;0.017	T	0.20739	-1.0266	9	0.72032	D	0.01	.	9.3439	0.38096	0.3857:0.6143:0.0:0.0	rs41551018	171;171	P30480;P01889	1B42_HUMAN;1B07_HUMAN	L	171;50;50;182	ENSP00000399168:W171L;ENSP00000405931:W182L	ENSP00000399168:W171L	W	-	2	0	HLA-B	31432030	0.955000	0.32602	0.325000	0.25375	0.005000	0.04900	0.352000	0.20113	0.177000	0.19895	-0.898000	0.02899	TGG		0.667	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4		NM_005514	
HNRNPM	4670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8528506	8528506	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr19:8528506T>A	ENST00000325495.4	+	5	415	c.374T>A	c.(373-375)aTg>aAg	p.M125K	HNRNPM_ENST00000348943.3_Missense_Mutation_p.M125K	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	125	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.M125K(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAAGAGAGCATGAAAAAAGCT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											153.0	127.0	136.0					19																	8528506		2203	4300	6503	SO:0001583	missense	4670			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.374T>A	19.37:g.8528506T>A	ENSP00000325376:p.Met125Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.813686	0.70912	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159	T;T	0.74421	-0.84;2.31	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.81269	0.4787	L	0.46157	1.445	0.80722	D	1	P;D;P;D	0.61697	0.93;0.988;0.832;0.99	P;P;P;P	0.62089	0.889;0.674;0.686;0.898	T	0.82659	-0.0348	10	0.72032	D	0.01	.	15.6463	0.77055	0.0:0.0:0.0:1.0	.	125;125;125;25	P52272;P52272-2;B4DEG4;Q59ES8	HNRPM_HUMAN;.;.;.	K	125;125;25	ENSP00000325376:M125K;ENSP00000325732:M125K	ENSP00000325376:M125K	M	+	2	0	HNRNPM	8434506	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	ATG		0.413	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			
INVS	27130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	103002449	103002449	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr9:103002449C>T	ENST00000262457.2	+	6	908	c.723C>T	c.(721-723)acC>acT	p.T241T	INVS_ENST00000541287.1_Silent_p.T145T|INVS_ENST00000262456.2_Silent_p.T241T	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	241					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.T241T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				ATGTCTTGACCTCATATGAAA	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											153.0	125.0	135.0					9																	103002449		2203	4300	6503	SO:0001819	synonymous_variant	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.723C>T	9.37:g.103002449C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Silent	SNP	ENST00000262457.2	37	CCDS6746.1																																																																																				0.443	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1		NM_014425	
KLF3	51274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	38698861	38698861	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr4:38698861A>G	ENST00000261438.5	+	6	1320	c.1015A>G	c.(1015-1017)Agg>Ggg	p.R339G		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	339					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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)	p.R339G(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGCCCTCCATAGGAAACGCCA	0.522																																																	1	Substitution - Missense(1)	kidney(1)											210.0	178.0	189.0					4																	38698861		2203	4300	6503	SO:0001583	missense	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.1015A>G	4.37:g.38698861A>G	ENSP00000261438:p.Arg339Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.903817	0.52333	.	.	ENSG00000109787	ENST00000261438	T	0.70164	-0.46	5.61	4.4	0.53042	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	L	0.44542	1.39	0.80722	D	1	P	0.51791	0.948	B	0.43783	0.431	T	0.64356	-0.6427	10	0.72032	D	0.01	.	12.9378	0.58325	0.8649:0.1351:0.0:0.0	.	339	P57682	KLF3_HUMAN	G	339	ENSP00000261438:R339G	ENSP00000261438:R339G	R	+	1	2	KLF3	38375256	1.000000	0.71417	0.849000	0.33467	0.985000	0.73830	2.775000	0.47702	0.922000	0.37019	0.528000	0.53228	AGG		0.522	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			
KDR	3791	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	55955623	55955623	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr4:55955623C>A	ENST00000263923.4	-	25	3617	c.3322G>T	c.(3322-3324)Ggg>Tgg	p.G1108W	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1108	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G1108W(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCTTTACCCCAGGATATGGA	0.383			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - Missense(1)	kidney(1)											66.0	64.0	65.0					4																	55955623		2203	4300	6503	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3322G>T	4.37:g.55955623C>A	ENSP00000263923:p.Gly1108Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019273	0.75275	.	.	ENSG00000128052	ENST00000263923	D	0.91180	-2.8	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95316	0.8480	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95622	0.8682	10	0.87932	D	0	.	15.851	0.78930	0.1362:0.8638:0.0:0.0	.	1108	P35968	VGFR2_HUMAN	W	1108	ENSP00000263923:G1108W	ENSP00000263923:G1108W	G	-	1	0	KDR	55650380	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.818000	0.86416	2.611000	0.88343	0.467000	0.42956	GGG		0.383	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			
KLHL31	401265	broad.mit.edu;hgsc.bcm.edu	37	6	53520057	53520057	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:53520057T>A	ENST00000407079.1	-	1	13	c.14A>T	c.(13-15)aAg>aTg	p.K5M	KLHL31_ENST00000370905.3_Missense_Mutation_p.K5M			Q9H511	KLH31_HUMAN	kelch-like family member 31	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.K5M(1)		autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GACAATCTTCTTTTTGGGTGC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											81.0	73.0	76.0					6																	53520057		2202	4300	6502	SO:0001583	missense	401265				CCDS34478.1	6p12.1	2013-09-27	2013-02-22	2007-01-09	ENSG00000124743	ENSG00000124743		"""Kelch-like"", ""BTB/POZ domain containing"""	21353	protein-coding gene	gene with protein product		610749	"""kelch repeat and BTB (POZ) domain containing 1"", ""kelch-like 31 (Drosophila)"""	KBTBD1			Standard	NM_001003760		Approved	bA345L23.2, BKLHD6	uc003pcb.4	Q9H511	OTTHUMG00000014882	ENST00000407079.1:c.14A>T	6.37:g.53520057T>A	ENSP00000384644:p.Lys5Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6N9J2|B2RP49	Missense_Mutation	SNP	ENST00000407079.1	37	CCDS34478.1	.	.	.	.	.	.	.	.	.	.	T	17.47	3.397265	0.62177	.	.	ENSG00000124743	ENST00000370905;ENST00000407079	T;T	0.72835	-0.69;-0.69	6.16	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.61788	0.2375	L	0.36672	1.1	0.49915	D	0.999837	D	0.67145	0.996	P	0.54499	0.754	T	0.67749	-0.5590	10	0.62326	D	0.03	.	12.1753	0.54182	0.0:0.066:0.0:0.934	.	5	Q9H511	KLH31_HUMAN	M	5	ENSP00000359942:K5M;ENSP00000384644:K5M	ENSP00000359942:K5M	K	-	2	0	KLHL31	53628016	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	1.157000	0.42530	0.528000	0.53228	AAG		0.358	KLHL31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040965.1		NM_001003760	
MAS1	4142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160328147	160328147	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:160328147C>A	ENST00000252660.4	+	1	174	c.160C>A	c.(160-162)Ctc>Atc	p.L54I		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	54					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.L54I(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TGGGATTCTCCTCTGGTTCCT	0.502																																																	1	Substitution - Missense(1)	kidney(1)											226.0	219.0	221.0					6																	160328147		2203	4300	6503	SO:0001583	missense	4142			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.160C>A	6.37:g.160328147C>A	ENSP00000252660:p.Leu54Ile	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121306	0.20877	.	.	ENSG00000130368	ENST00000252660	T	0.70749	-0.51	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.134110	0.33834	N	0.004518	T	0.35248	0.0925	N	0.20445	0.575	0.42982	D	0.99446	B	0.31879	0.344	B	0.33392	0.163	T	0.38585	-0.9654	10	0.02654	T	1	.	13.7792	0.63073	0.1533:0.8467:0.0:0.0	.	54	P04201	MAS_HUMAN	I	54	ENSP00000252660:L54I	ENSP00000252660:L54I	L	+	1	0	MAS1	160248137	0.949000	0.32298	0.998000	0.56505	0.761000	0.43186	1.532000	0.36029	2.701000	0.92244	0.655000	0.94253	CTC		0.502	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2		NM_002377	
MEF2D	4209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	156446973	156446973	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:156446973C>T	ENST00000348159.4	-	7	1166	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	MEF2D_ENST00000368240.2_Missense_Mutation_p.R229Q|MEF2D_ENST00000353795.3_Missense_Mutation_p.R183Q|MEF2D_ENST00000340875.5_Missense_Mutation_p.R228Q|MEF2D_ENST00000360595.3_Missense_Mutation_p.R229Q|MEF2D_ENST00000464356.2_Missense_Mutation_p.R228Q	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	229					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R229Q(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGGGAAGCCCGAGCACTGAC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											63.0	58.0	60.0					1																	156446973		2203	4300	6503	SO:0001583	missense	4209			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.686G>A	1.37:g.156446973C>T	ENSP00000271555:p.Arg229Gln	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVC0|Q14815|Q5T9U5|Q5T9U6	Missense_Mutation	SNP	ENST00000348159.4	37	CCDS1143.1	.	.	.	.	.	.	.	.	.	.	C	36	5.647066	0.96714	.	.	ENSG00000116604	ENST00000348159;ENST00000340875;ENST00000368240;ENST00000353795;ENST00000360595;ENST00000454816	T;T;T;T;T;T	0.61627	0.1;0.12;0.09;0.48;0.09;0.1	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	M	0.82323	2.585	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.977;0.998	D;P;D	0.83275	0.996;0.556;0.951	T	0.79027	-0.1971	10	0.87932	D	0	-21.4834	17.7854	0.88536	0.0:1.0:0.0:0.0	.	234;229;229	Q4LE66;Q14814;Q14814-4	.;MEF2D_HUMAN;.	Q	229;228;229;183;229;228	ENSP00000271555:R229Q;ENSP00000343159:R228Q;ENSP00000357223:R229Q;ENSP00000344705:R183Q;ENSP00000353803:R229Q;ENSP00000388505:R228Q	ENSP00000343159:R228Q	R	-	2	0	MEF2D	154713597	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.298000	0.78815	2.544000	0.85801	0.655000	0.94253	CGG		0.552	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080562.2		NM_005920	
MICAL1	64780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	109774523	109774523	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:109774523C>G	ENST00000358807.3	-	4	825	c.514G>C	c.(514-516)Ggg>Cgg	p.G172R	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Missense_Mutation_p.G191R|MICAL1_ENST00000358577.3_Missense_Mutation_p.G172R	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	172	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G172R(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ATTTCCACCCCCAGCAGCAAT	0.577																																																	1	Substitution - Missense(1)	kidney(1)											62.0	63.0	63.0					6																	109774523		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.514G>C	6.37:g.109774523C>G	ENSP00000351664:p.Gly172Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008354	0.93346	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000431946	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	M	0.80847	2.515	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.64228	-0.6457	10	0.56958	D	0.05	.	17.4359	0.87552	0.0:1.0:0.0:0.0	.	191;172;172	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	R	172;191;172;172	ENSP00000351664:G172R;ENSP00000357948:G191R;ENSP00000351385:G172R;ENSP00000407075:G172R	ENSP00000351385:G172R	G	-	1	0	MICAL1	109881216	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.023000	0.70848	2.714000	0.92807	0.561000	0.74099	GGG		0.577	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2		NM_022765	
MYO18B	84700	broad.mit.edu;hgsc.bcm.edu	37	22	26422488	26422488	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr22:26422488A>G	ENST00000407587.2	+	43	6720	c.6551A>G	c.(6550-6552)cAc>cGc	p.H2184R	MYO18B_ENST00000335473.7_Missense_Mutation_p.H2183R|MYO18B_ENST00000536101.1_Missense_Mutation_p.H2183R			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2183						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.H2184R(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCAATGTCCACAGCAAGACC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											77.0	85.0	82.0					22																	26422488		1972	4156	6128	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6551A>G	22.37:g.26422488A>G	ENSP00000386096:p.His2184Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.050|0.050	-1.252861|-1.252861	0.01457|0.01457	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.86164|.	-2.06;-2.06;-2.08|.	5.11|5.11	-10.2|-10.2	0.00374|0.00374	.|.	4.491930|.	0.00597|.	N|.	0.000372|.	T|T	0.25938|0.25938	0.0632|0.0632	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0;0.0|.	T|T	0.34254|0.34254	-0.9836|-0.9836	10|5	0.02654|.	T|.	1|.	.|.	12.7708|12.7708	0.57419|0.57419	0.4959:0.4113:0.0928:0.0|0.4959:0.4113:0.0928:0.0	.|.	1696;2185;2183;2184;2183|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	R|A	2183;2183;2184|133	ENSP00000441229:H2183R;ENSP00000334563:H2183R;ENSP00000386096:H2184R|.	ENSP00000334563:H2183R|.	H|T	+|+	2|1	0|0	MYO18B|MYO18B	24752488|24752488	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-2.169000|-2.169000	0.01269|0.01269	-2.857000|-2.857000	0.00329|0.00329	-0.930000|-0.930000	0.02707|0.02707	CAC|ACA		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		NM_032608	
N6AMT1	29104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30255320	30255320	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr21:30255320G>T	ENST00000303775.5	-	2	233	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	N6AMT1_ENST00000351429.3_Missense_Mutation_p.Q70K	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	70					positive regulation of cell growth (GO:0030307)|protein methylation (GO:0006479)	protein complex (GO:0043234)	nucleic acid binding (GO:0003676)|protein methyltransferase activity (GO:0008276)	p.Q70K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TACAAAGCCTGAGGGCCTATC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											92.0	85.0	88.0					21																	30255320		2203	4300	6503	SO:0001583	missense	29104			AF139682	CCDS33525.1, CCDS33526.1	21q21.3	2006-12-14	2006-12-14	2006-12-14	ENSG00000156239	ENSG00000156239	2.1.1.72		16021	protein-coding gene	gene with protein product		614553	"""chromosome 21 open reading frame 127"", ""HemK methyltransferase family member 2"""	C21orf127, HEMK2			Standard	NM_013240		Approved	PRED28, N6AMT, MTQ2	uc002ymo.2	Q9Y5N5	OTTHUMG00000078750	ENST00000303775.5:c.208C>A	21.37:g.30255320G>T	ENSP00000303584:p.Gln70Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q96F73	Missense_Mutation	SNP	ENST00000303775.5	37	CCDS33526.1	.	.	.	.	.	.	.	.	.	.	G	4.220	0.039666	0.08148	.	.	ENSG00000156239	ENST00000303775;ENST00000351429	T;T	0.20881	2.59;2.04	5.34	5.34	0.76211	Methyltransferase small (1);	0.698726	0.14737	N	0.301410	T	0.11580	0.0282	N	0.17564	0.495	0.24522	N	0.994156	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.23868	-1.0176	10	0.05833	T	0.94	-6.3943	11.3879	0.49796	0.0:0.0:0.7284:0.2716	.	70;70	Q9Y5N5-2;Q9Y5N5	.;HEMK2_HUMAN	K	70	ENSP00000303584:Q70K;ENSP00000286764:Q70K	ENSP00000303584:Q70K	Q	-	1	0	N6AMT1	29177191	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	3.005000	0.49521	2.781000	0.95711	0.650000	0.86243	CAG		0.343	N6AMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171738.1		NM_013240	
ANKRD30BL	554226	broad.mit.edu	37	2	132912316	132912316	+	Missense_Mutation	SNP	G	G	A	rs200558206		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr2:132912316G>A	ENST00000409867.1	-	4	782	c.533C>T	c.(532-534)gCc>gTc	p.A178V	ANKRD30BL_ENST00000470729.1_5'UTR|RNU6-1132P_ENST00000459214.1_RNA			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	178								p.A178V(2)		endometrium(1)|kidney(3)	4						TTTCCTTATGGCCAGTAAAAG	0.294																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.533C>T	2.37:g.132912316G>A	ENSP00000386398:p.Ala178Val	Somatic		WXS	Illumina GAIIx	Phase_I	B8ZZL7	RNA	SNP	ENST00000409867.1	37		.	.	.	.	.	.	.	.	.	.	.	14.64	2.594656	0.46214	.	.	ENSG00000163046	ENST00000409867	T	0.61627	0.09	0.569	0.569	0.17340	.	.	.	.	.	T	0.54046	0.1834	.	.	.	0.23581	N	0.997362	.	.	.	.	.	.	T	0.51228	-0.8732	5	0.66056	D	0.02	.	.	.	.	.	.	.	.	V	178	ENSP00000386398:A178V	ENSP00000295181:A178V	A	-	2	0	ANKRD30BL	132628786	0.014000	0.17966	0.261000	0.24466	0.477000	0.33069	0.281000	0.18810	0.567000	0.29293	0.184000	0.17185	GCC		0.294	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2		NR_027019	
NUP205	23165	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	135298932	135298932	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr7:135298932C>T	ENST00000285968.6	+	23	3247	c.3221C>T	c.(3220-3222)tCt>tTt	p.S1074F		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1074					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.S1074F(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGTGCATGCTCTGATACATCT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											176.0	162.0	167.0					7																	135298932		2203	4300	6503	SO:0001583	missense	23165			D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3221C>T	7.37:g.135298932C>T	ENSP00000285968:p.Ser1074Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126255	0.77549	.	.	ENSG00000155561	ENST00000285968	T	0.31247	1.5	5.69	4.8	0.61643	.	0.151857	0.64402	D	0.000009	T	0.36717	0.0977	L	0.52573	1.65	0.80722	D	1	P	0.46656	0.882	P	0.45343	0.477	T	0.28106	-1.0054	10	0.72032	D	0.01	-6.7408	16.6616	0.85242	0.0:0.8701:0.1299:0.0	.	1074	Q92621	NU205_HUMAN	F	1074	ENSP00000285968:S1074F	ENSP00000285968:S1074F	S	+	2	0	NUP205	134949472	1.000000	0.71417	0.987000	0.45799	0.943000	0.58893	7.416000	0.80143	1.389000	0.46526	-0.302000	0.09304	TCT		0.358	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			
OAZ3	51686	broad.mit.edu;hgsc.bcm.edu	37	1	151740624	151740624	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:151740624T>G	ENST00000321531.5	+	4	426	c.259T>G	c.(259-261)Tct>Gct	p.S87A	RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000479764.1_Intron|OAZ3_ENST00000315067.8_Missense_Mutation_p.S87A|RP11-98D18.16_ENST00000596133.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_3'UTR|OAZ3_ENST00000453029.2_Missense_Mutation_p.S100A			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	132					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489)	p.S131A(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CTCCCAGACCTCTGCCCATTG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											91.0	91.0	91.0					1																	151740624		1984	4146	6130	SO:0001583	missense	51686			AF175296	CCDS58028.1	1q21.3	2008-02-05			ENSG00000143450	ENSG00000143450			8097	protein-coding gene	gene with protein product		605138				10781085	Standard	NM_016178		Approved		uc010pdm.2	Q9UMX2	OTTHUMG00000013061	ENST00000321531.5:c.259T>G	1.37:g.151740624T>G	ENSP00000313922:p.Ser87Ala	Somatic		WXS	Illumina HiSeq	Phase_I	E7EUE7|Q6GMR0	Missense_Mutation	SNP	ENST00000321531.5	37	CCDS58028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.77|12.77	2.038644|2.038644	0.35989|0.35989	.|.	.|.	ENSG00000143450|ENSG00000143450	ENST00000453029|ENST00000315067;ENST00000321531	.|T;T	.|0.46819	.|0.86;0.91	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Acyl-CoA N-acyltransferase (1);	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.40767|0.40767	0.1130|0.1130	L|L	0.50333|0.50333	1.59|1.59	0.31146|0.31146	N|N	0.7061|0.7061	.|D;P	.|0.56746	.|0.977;0.951	.|P;P	.|0.57152	.|0.814;0.76	T|T	0.34850|0.34850	-0.9812|-0.9812	5|10	.|0.16420	.|T	.|0.52	-12.3982|-12.3982	13.214|13.214	0.59844|0.59844	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|67;84	.|D3DV23;Q9UMX2	.|.;OAZ3_HUMAN	R|A	56|87;131	.|ENSP00000357820:S87A;ENSP00000313922:S131A	.|ENSP00000357820:S87A	L|S	+|+	2|1	0|0	OAZ3|OAZ3	150007248|150007248	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.154000|0.154000	0.21943|0.21943	2.616000|2.616000	0.46376|0.46376	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTC|TCT		0.567	OAZ3-004	KNOWN	non_canonical_other|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276842.3		NM_016178	
OR9G1	390174	hgsc.bcm.edu	37	11	56468235	56468235	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr11:56468235C>T	ENST00000312153.1	+	1	372	c.372C>T	c.(370-372)gcC>gcT	p.A124A		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GCTACGTGGCCATCTCCAAGC	0.522																																																	0													152.0	139.0	144.0					11																	56468235		2201	4296	6497	SO:0001819	synonymous_variant	390174			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.372C>T	11.37:g.56468235C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	CCDS31536.1																																																																																				0.522	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1		NM_001005213	
PAH	5053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	103306603	103306603	+	Missense_Mutation	SNP	A	A	T	rs199475640|rs199475628		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr12:103306603A>T	ENST00000553106.1	-	2	606	c.134T>A	c.(133-135)gTt>gAt	p.V45D	PAH_ENST00000307000.2_Missense_Mutation_p.V40D|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	45	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.		V -> A (in PKU). {ECO:0000269|PubMed:22513348}.		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)	p.V45D(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CAATGCACCAACTTCTTCTTT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											231.0	197.0	208.0					12																	103306603		2203	4300	6503	SO:0001583	missense	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.134T>A	12.37:g.103306603A>T	ENSP00000448059:p.Val45Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177429	0.78564	.	.	ENSG00000171759	ENST00000553106;ENST00000307000;ENST00000551337;ENST00000546844	D;D;D;D	0.99158	-5.5;-5.5;-5.5;-5.5	5.46	5.46	0.80206	Amino acid-binding ACT (1);	0.059412	0.64402	D	0.000003	D	0.98868	0.9617	M	0.87381	2.88	0.80722	D	1	P;D	0.53462	0.902;0.96	P;P	0.50825	0.6;0.651	D	0.98985	1.0806	10	0.62326	D	0.03	-20.8024	13.057	0.58986	1.0:0.0:0.0:0.0	.	45;45	B4DPN2;P00439	.;PH4H_HUMAN	D	45;40;45;45	ENSP00000448059:V45D;ENSP00000303500:V40D;ENSP00000447620:V45D;ENSP00000446658:V45D	ENSP00000303500:V40D	V	-	2	0	PAH	101830733	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.592000	0.67543	2.058000	0.61347	0.528000	0.53228	GTT		0.368	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			
PCDHB11	56125	hgsc.bcm.edu;ucsc.edu	37	5	140580451	140580453	+	In_Frame_Del	DEL	TAG	TAG	-	rs371620966	byFrequency	TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	TAG	TAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr5:140580451_140580453delTAG	ENST00000354757.3	+	1	1104_1106	c.1104_1106delTAG	c.(1102-1107)tttagt>ttt	p.S369del	PCDHB11_ENST00000536699.1_In_Frame_Del_p.S4del	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	369	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTATGGTTTTTAGTATCCAAGAT	0.414																																																	0																																										SO:0001651	inframe_deletion	56125			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1104_1106delTAG	5.37:g.140580451_140580453delTAG	ENSP00000346802:p.Ser369del	Somatic		WXS	Illumina HiSeq	Phase_I	B4DSF7|Q2M223	In_Frame_Del	DEL	ENST00000354757.3	37	CCDS4253.1																																																																																				0.414	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1		NM_018931	
PCMTD1	115294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	52746175	52746175	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr8:52746175C>T	ENST00000360540.5	-	5	891	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	PCMTD1_ENST00000544451.1_Missense_Mutation_p.R86Q|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R162Q	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	162						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R162Q(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ACAATAAATTCGATCATACTG	0.363																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											144.0	129.0	134.0					8																	52746175		2203	4300	6503	SO:0001583	missense	115294				CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.485G>A	8.37:g.52746175C>T	ENSP00000353739:p.Arg162Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	CCDS6148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836588|4.836588	0.91117|0.91117	.|.	.|.	ENSG00000168300|ENSG00000168300	ENST00000519554|ENST00000360540;ENST00000544451;ENST00000522514	.|T;T;T	.|0.41400	.|1.0;1.0;1.0	5.2|5.2	3.38|3.38	0.38709|0.38709	.|.	.|0.124846	.|0.56097	.|D	.|0.000034	T|T	0.68118|0.68118	0.2966|0.2966	M|M	0.89534|0.89534	3.04|3.04	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;P;D	.|0.89917	.|0.998;0.998;0.545;1.0	.|D;D;B;D	.|0.97110	.|0.992;0.992;0.039;1.0	T|T	0.74200|0.74200	-0.3742|-0.3742	5|10	.|0.59425	.|D	.|0.04	-42.8563|-42.8563	12.0488|12.0488	0.53495|0.53495	0.0:0.8575:0.0:0.1425|0.0:0.8575:0.0:0.1425	.|.	.|79;32;86;162	.|Q658R8;B4E2B4;F5H1M8;Q96MG8	.|.;.;.;PCMD1_HUMAN	K|Q	54|162;86;162	.|ENSP00000353739:R162Q;ENSP00000444026:R86Q;ENSP00000428099:R162Q	.|ENSP00000353739:R162Q	E|R	-|-	1|2	0|0	PCMTD1|PCMTD1	52908728|52908728	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	6.060000|6.060000	0.71141|0.71141	1.195000|1.195000	0.43115|0.43115	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.363	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2		NM_052937	
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	144912241	144912241	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:144912241C>A	ENST00000369354.3	-	15	2223	c.2034G>T	c.(2032-2034)caG>caT	p.Q678H	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.Q841H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q678H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q678H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.Q465H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q744H|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.Q841H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q815H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q678H|PDE4DIP_ENST00000524974.1_5'Flank|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q815H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	678					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.Q678H(2)|p.Q841H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCGCAGGGCCTGTAATTCTG	0.433			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	3	Substitution - Missense(3)	kidney(3)											82.0	80.0	81.0					1																	144912241		2203	4300	6503	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2034G>T	1.37:g.144912241C>A	ENSP00000358360:p.Gln678His	Somatic		WXS	Illumina HiSeq	Phase_I	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514556	0.27123	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.17213	4.29;4.36;4.36;4.4;4.39;3.4;3.41;2.32;2.33;2.29	5.53	3.67	0.42095	.	.	.	.	.	T	0.20251	0.0487	L	0.56769	1.78	0.80722	D	1	D;B;B;B;P;B	0.76494	0.999;0.088;0.01;0.151;0.64;0.036	D;B;B;B;B;B	0.65874	0.939;0.056;0.012;0.133;0.148;0.01	T	0.01420	-1.1359	9	0.56958	D	0.05	.	8.2974	0.31993	0.0:0.8191:0.0:0.1809	.	841;465;678;841;744;678	E9PL24;E9PQG4;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;.;MYOME_HUMAN	H	744;678;678;841;815;815;678;678;841;841;465	ENSP00000327209:Q744H;ENSP00000358360:Q678H;ENSP00000358363:Q678H;ENSP00000435654:Q815H;ENSP00000358366:Q815H;ENSP00000358357:Q678H;ENSP00000358355:Q678H;ENSP00000316434:Q841H;ENSP00000433392:Q841H;ENSP00000436791:Q465H	ENSP00000327209:Q744H	Q	-	3	2	PDE4DIP	143623598	0.897000	0.30589	1.000000	0.80357	0.416000	0.31233	0.168000	0.16622	0.722000	0.32252	-0.142000	0.14014	CAG		0.433	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359	
PDILT	204474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20380853	20380853	+	Silent	SNP	G	G	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr16:20380853G>T	ENST00000302451.4	-	8	1325	c.1077C>A	c.(1075-1077)ctC>ctA	p.L359L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	359					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.L359L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CAAATTTCTTGAGGCTTTCGT	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											171.0	171.0	171.0					16																	20380853		2203	4300	6503	SO:0001819	synonymous_variant	204474				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1077C>A	16.37:g.20380853G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IVQ5	Silent	SNP	ENST00000302451.4	37	CCDS10584.1																																																																																				0.443	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1		NM_174924	
PDXDC2P	283970	broad.mit.edu	37	16	70058574	70058574	+	RNA	SNP	C	C	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr16:70058574C>G	ENST00000531894.1	-	0	899					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.?(1)									GCTGCCGTTCCTAGGATAAAA	0.438																																																	1	Unknown(1)	kidney(1)																																										0					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70058574C>G		Somatic		WXS	Illumina GAIIx	Phase_I	A8K9Z5	Splice_Site	SNP	ENST00000531894.1	37																																																																																					0.438	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1			
PFN4	375189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	24338472	24338472	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr2:24338472A>T	ENST00000313213.4	-	5	742	c.371T>A	c.(370-372)cTa>cAa	p.L124Q	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	124					actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	lipid binding (GO:0008289)	p.L124Q(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTTTTCTTAGGTAGTCTCC	0.299																																																	1	Substitution - Missense(1)	kidney(1)											91.0	86.0	88.0					2																	24338472		2202	4299	6501	SO:0001583	missense	375189			BC029523	CCDS1709.1	2p24.1	2008-02-05			ENSG00000176732	ENSG00000176732			31103	protein-coding gene	gene with protein product							Standard	NM_199346		Approved		uc002rfa.1	Q8NHR9	OTTHUMG00000090816	ENST00000313213.4:c.371T>A	2.37:g.24338472A>T	ENSP00000322170:p.Leu124Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q53TL9	Missense_Mutation	SNP	ENST00000313213.4	37	CCDS1709.1	.	.	.	.	.	.	.	.	.	.	A	18.08	3.543059	0.65198	.	.	ENSG00000176732	ENST00000313213	D	0.95238	-3.65	4.08	4.08	0.47627	.	0.126886	0.35838	N	0.002949	D	0.96074	0.8721	M	0.83774	2.66	0.40752	D	0.982927	P	0.51791	0.948	P	0.57548	0.823	D	0.96340	0.9250	10	0.87932	D	0	-4.5942	9.734	0.40377	1.0:0.0:0.0:0.0	.	124	Q8NHR9	PROF4_HUMAN	Q	124	ENSP00000322170:L124Q	ENSP00000322170:L124Q	L	-	2	0	PFN4	24191976	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.473000	0.53122	2.073000	0.62155	0.482000	0.46254	CTA		0.299	PFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207617.2		NM_199346	
PTEN	5728	hgsc.bcm.edu	37	10	89711969	89711970	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr10:89711969_89711970insC	ENST00000371953.3	+	6	1944_1945	c.587_588insC	c.(586-591)cacaagfs	p.K197fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	197	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.H196fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTGTTGTTTCACAAGATGATGT	0.396		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	53	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(4)|Deletion - In frame(1)|Insertion - Frameshift(1)	prostate(16)|central_nervous_system(14)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)																																								SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.588dupC	10.37:g.89711970_89711970dupC	ENSP00000361021:p.Lys197fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	CCDS31238.1																																																																																				0.396	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
RAD17	5884	hgsc.bcm.edu;ucsc.edu	37	5	68682089	68682090	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	TT	TT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr5:68682089_68682090delTT	ENST00000509734.1	+	9	1492_1493	c.814_815delTT	c.(814-816)tttfs	p.F272fs	RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Frame_Shift_Del_p.F261fs|RAD17_ENST00000345306.6_Frame_Shift_Del_p.F261fs|RAD17_ENST00000380774.3_Frame_Shift_Del_p.F272fs|RAD17_ENST00000305138.4_Frame_Shift_Del_p.F261fs|RAD17_ENST00000358030.2_Frame_Shift_Del_p.F96fs|RAD17_ENST00000354868.5_Frame_Shift_Del_p.F261fs|RAD17_ENST00000521422.1_Frame_Shift_Del_p.F96fs|RAD17_ENST00000282891.6_Frame_Shift_Del_p.F175fs|RAD17_ENST00000361732.2_Frame_Shift_Del_p.F261fs			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	272					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AAGGTTATTGTTTCCCAAAGAA	0.292								Other conserved DNA damage response genes																																									0																																										SO:0001589	frameshift_variant	5884			AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.814_815delTT	5.37:g.68682089_68682090delTT	ENSP00000426191:p.Phe272fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Frame_Shift_Del	DEL	ENST00000509734.1	37	CCDS4003.1																																																																																				0.292	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1		NM_133344	
RASGRF2	5924	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	80511696	80511696	+	Splice_Site	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr5:80511696C>A	ENST00000265080.4	+	24	3423	c.3356C>A	c.(3355-3357)aCa>aAa	p.T1119K	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1119	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.|Responsible of the affinity for farnesylated versus geranylgeranylated Ras. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1119K(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTTTTTAGACAAAAGCTCTA	0.299																																																	1	Substitution - Missense(1)	kidney(1)											14.0	16.0	15.0					5																	80511696		2114	4219	6333	SO:0001630	splice_region_variant	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3355-1C>A	5.37:g.80511696C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537077	0.85812	.	.	ENSG00000113319	ENST00000265080	T	0.30714	1.52	5.96	5.96	0.96718	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.213645	0.47455	D	0.000224	T	0.41305	0.1153	L	0.52573	1.65	0.80722	D	1	P	0.37141	0.584	P	0.45343	0.477	T	0.02743	-1.1116	10	0.31617	T	0.26	.	20.0324	0.97544	0.0:1.0:0.0:0.0	.	1119	O14827	RGRF2_HUMAN	K	1119	ENSP00000265080:T1119K	ENSP00000265080:T1119K	T	+	2	0	RASGRF2	80547452	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	ACA		0.299	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2		NM_006909	Missense_Mutation
RBM26	64062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	79911406	79911406	+	Missense_Mutation	SNP	C	C	G	rs140188767		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr13:79911406C>G	ENST00000438737.2	-	19	3004	c.2564G>C	c.(2563-2565)cGg>cCg	p.R855P	RBM26_ENST00000438724.1_Missense_Mutation_p.R831P|RBM26_ENST00000267229.7_Missense_Mutation_p.R828P			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	855					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R855P(1)|p.R828P(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TCCTCTGCCCCGACCAGATGA	0.532																																																	2	Substitution - Missense(2)	kidney(2)											96.0	86.0	89.0					13																	79911406		2203	4300	6503	SO:0001583	missense	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2564G>C	13.37:g.79911406C>G	ENSP00000387531:p.Arg855Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37		.	.	.	.	.	.	.	.	.	.	C	26.2	4.715585	0.89112	.	.	ENSG00000139746	ENST00000449987;ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	D;D	0.95272	-3.66;-3.66	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.97207	0.9087	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.995;0.997	D;P;P;P	0.81914	0.995;0.899;0.795;0.899	D	0.97222	0.9878	9	.	.	.	-8.7052	18.4403	0.90664	0.0:1.0:0.0:0.0	.	212;831;855;828	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	P	41;828;856;855;831	ENSP00000267229:R828P;ENSP00000390222:R831P	.	R	-	2	0	RBM26	78809407	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.445000	0.80570	2.421000	0.82119	0.650000	0.86243	CGG		0.532	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118	
RFX6	222546	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	117241586	117241586	+	Silent	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:117241586C>T	ENST00000332958.2	+	12	1312	c.1296C>T	c.(1294-1296)agC>agT	p.S432S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	432					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.S432S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCAGGCAGCACAGACACTG	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											196.0	173.0	181.0					6																	117241586		2203	4300	6503	SO:0001819	synonymous_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1296C>T	6.37:g.117241586C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T6B3	Silent	SNP	ENST00000332958.2	37	CCDS5113.1																																																																																				0.408	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2		NM_173560	
RUVBL2	10856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49517740	49517740	+	Splice_Site	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr19:49517740G>A	ENST00000595090.1	+	12	1465		c.e12-1		RUVBL2_ENST00000601968.1_Splice_Site|RUVBL2_ENST00000413176.2_Splice_Site	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2						ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)	p.?(1)		large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTCTTCCTCAGAATCCGGGGC	0.607																																																	1	Unknown(1)	kidney(1)											50.0	55.0	53.0					19																	49517740		1996	4165	6161	SO:0001630	splice_region_variant	10856			AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.1002-1G>A	19.37:g.49517740G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Splice_Site	SNP	ENST00000595090.1	37	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968061	0.74131	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5784	0.84707	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUVBL2	54209552	1.000000	0.71417	0.847000	0.33407	0.322000	0.28314	5.806000	0.69150	2.595000	0.87683	0.561000	0.74099	.		0.607	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			Intron
SALL4	57167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	50406800	50406800	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr20:50406800A>G	ENST00000217086.4	-	2	2333	c.2222T>C	c.(2221-2223)tTt>tCt	p.F741S	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	741					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F741S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCAGGTTAAAAGGGGCAGG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											50.0	45.0	46.0					20																	50406800		2203	4300	6503	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2222T>C	20.37:g.50406800A>G	ENSP00000217086:p.Phe741Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	A	7.201	0.593432	0.13875	.	.	ENSG00000101115	ENST00000217086	T	0.08102	3.13	5.67	3.38	0.38709	.	0.863177	0.09658	N	0.772768	T	0.05364	0.0142	N	0.08118	0	0.47621	D	0.999479	B	0.14438	0.01	B	0.13407	0.009	T	0.26916	-1.0089	10	0.59425	D	0.04	-1.415	8.6165	0.33835	0.8026:0.13:0.0674:0.0	.	741	Q9UJQ4	SALL4_HUMAN	S	741	ENSP00000217086:F741S	ENSP00000217086:F741S	F	-	2	0	SALL4	49840207	0.776000	0.28616	0.005000	0.12908	0.096000	0.18686	6.237000	0.72345	0.394000	0.25230	0.533000	0.62120	TTT		0.592	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			
SCN10A	6336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	38798548	38798548	+	Silent	SNP	G	G	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr3:38798548G>T	ENST00000449082.2	-	8	1052	c.1053C>A	c.(1051-1053)cgC>cgA	p.R351R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	351					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R351R(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTGTCATGAGGCGGAACAGTG	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	81.0	80.0					3																	38798548		2203	4300	6503	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1053C>A	3.37:g.38798548G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.522	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3		NM_006514	
SCNN1G	6340	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	23203706	23203706	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr16:23203706A>G	ENST00000300061.2	+	4	795	c.652A>G	c.(652-654)Acc>Gcc	p.T218A	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	218					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.T218A(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGCCACCTACACCTTCAGCTC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											152.0	132.0	139.0					16																	23203706		2197	4300	6497	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.652A>G	16.37:g.23203706A>G	ENSP00000300061:p.Thr218Ala	Somatic		WXS	Illumina HiSeq	Phase_I	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	a	20.5	4.002255	0.74932	.	.	ENSG00000166828	ENST00000300061	T	0.71103	-0.54	5.2	5.2	0.72013	.	0.217751	0.40554	N	0.001062	T	0.80869	0.4706	L	0.59912	1.85	0.31785	N	0.630429	D	0.89917	1.0	D	0.87578	0.998	T	0.82444	-0.0454	10	0.41790	T	0.15	-9.7279	14.5462	0.68032	1.0:0.0:0.0:0.0	.	218	P51170	SCNNG_HUMAN	A	218	ENSP00000300061:T218A	ENSP00000300061:T218A	T	+	1	0	SCNN1G	23111207	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.006000	0.57083	2.095000	0.63458	0.454000	0.30748	ACC		0.483	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1		NM_001039	
SIPA1L2	57568	broad.mit.edu;hgsc.bcm.edu	37	1	232651061	232651061	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:232651061C>A	ENST00000366630.1	-	2	383	c.25G>T	c.(25-27)Gaa>Taa	p.E9*	SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.E9*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	9					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.E9*(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGCTTCTCTTCTTGTGACTGC	0.453																																																	1	Substitution - Nonsense(1)	kidney(1)											49.0	49.0	49.0					1																	232651061		1889	4123	6012	SO:0001587	stop_gained	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.25G>T	1.37:g.232651061C>A	ENSP00000355589:p.Glu9*	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Nonsense_Mutation	SNP	ENST00000366630.1	37	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	40	8.286598	0.98742	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	.	.	.	5.4	4.49	0.54785	.	0.488680	0.23263	N	0.050102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-21.9117	14.0936	0.65006	0.0:0.9283:0.0:0.0717	.	.	.	.	X	9	.	ENSP00000262861:E9X	E	-	1	0	SIPA1L2	230717684	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.733000	0.55029	1.515000	0.48885	0.555000	0.69702	GAA		0.453	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839	
SPG11	80208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	44877930	44877930	+	Silent	SNP	A	A	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr15:44877930A>T	ENST00000261866.7	-	29	5041	c.5025T>A	c.(5023-5025)tcT>tcA	p.S1675S	SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000427534.2_Silent_p.S1675S|SPG11_ENST00000535302.2_Silent_p.S1675S|SPG11_ENST00000558319.1_Silent_p.S1675S	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1675					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.S1675S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTTCCAAAATAGATCTACATT	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	134.0	135.0					15																	44877930		2198	4298	6496	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5025T>A	15.37:g.44877930A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	ENST00000261866.7	37	CCDS10112.1																																																																																				0.393	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			
SNX33	257364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75942230	75942230	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr15:75942230G>A	ENST00000308527.5	+	1	1984	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	IMP3_ENST00000314852.2_5'Flank|IMP3_ENST00000565349.1_5'Flank	NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	263	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|macropinocytosis (GO:0044351)|membrane tubulation (GO:0097320)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|negative regulation of endocytosis (GO:0045806)|negative regulation of protein localization to cell surface (GO:2000009)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein localization to cell surface (GO:2000010)|protein import (GO:0017038)	cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)	p.V263I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TGCCTCACCCGTCTACCGGCG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											150.0	136.0	141.0					15																	75942230		2197	4294	6491	SO:0001583	missense	257364			AK091291	CCDS10283.1	15q23	2008-04-18	2008-03-25	2008-03-25	ENSG00000173548	ENSG00000173548			28468	protein-coding gene	gene with protein product			"""SH3 and PX domain containing 3"""	SH3PX3		16374509, 16782399, 18353773	Standard	NM_153271		Approved	MGC32065, SH3PXD3C, SNX30	uc002bau.3	Q8WV41	OTTHUMG00000142835	ENST00000308527.5:c.787G>A	15.37:g.75942230G>A	ENSP00000311427:p.Val263Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B1NM17	Missense_Mutation	SNP	ENST00000308527.5	37	CCDS10283.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922349	0.33908	.	.	ENSG00000173548	ENST00000308527	T	0.40476	1.03	5.42	5.42	0.78866	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.80422	2.495	0.80722	D	1	D	0.65815	0.995	D	0.68353	0.957	T	0.71279	-0.4640	10	0.72032	D	0.01	-18.5012	17.7863	0.88539	0.0:0.0:1.0:0.0	.	263	Q8WV41	SNX33_HUMAN	I	263	ENSP00000311427:V263I	ENSP00000311427:V263I	V	+	1	0	SNX33	73729285	1.000000	0.71417	0.952000	0.39060	0.527000	0.34593	9.867000	0.99620	2.543000	0.85770	0.561000	0.74099	GTC		0.542	SNX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286471.1		NM_153271	
STAG2	10735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	123179198	123179198	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chrX:123179198G>A	ENST00000371160.1	+	8	937	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	STAG2_ENST00000371145.3_Missense_Mutation_p.R216Q|STAG2_ENST00000354548.5_Missense_Mutation_p.R147Q|STAG2_ENST00000371157.3_Missense_Mutation_p.R216Q|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.R216Q|STAG2_ENST00000371144.3_Missense_Mutation_p.R216Q	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	216					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R216Q(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGAGCATTTCGACATACAAGC	0.343																																																	2	Substitution - Missense(2)	kidney(2)											130.0	124.0	126.0					X																	123179198		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.647G>A	X.37:g.123179198G>A	ENSP00000360202:p.Arg216Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530868	0.96446	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	4.95	4.95	0.65309	STAG (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86653	0.5984	H	0.94542	3.55	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.71184	0.972;0.965	D	0.90921	0.4783	10	0.87932	D	0	-0.371	17.5808	0.87968	0.0:0.0:1.0:0.0	.	216;216	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	Q	216;216;147;216;216;216;216	ENSP00000218089:R216Q;ENSP00000397265:R216Q;ENSP00000346555:R147Q;ENSP00000360202:R216Q;ENSP00000360199:R216Q;ENSP00000360187:R216Q;ENSP00000360186:R216Q	ENSP00000218089:R216Q	R	+	2	0	STAG2	123006879	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.958000	0.87877	2.167000	0.68274	0.422000	0.28245	CGA		0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603	
STRN3	29966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	31404443	31404443	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr14:31404443A>T	ENST00000357479.5	-	7	1110	c.914T>A	c.(913-915)tTt>tAt	p.F305Y	STRN3_ENST00000366206.2_5'Flank|STRN3_ENST00000355683.5_Missense_Mutation_p.F305Y	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	305					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|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)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F305Y(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TAAAAAATCAAATTCTTTCAG	0.418																																																	2	Substitution - Missense(2)	kidney(2)											109.0	107.0	108.0					14																	31404443		2203	4300	6503	SO:0001583	missense	29966				CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.914T>A	14.37:g.31404443A>T	ENSP00000350071:p.Phe305Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	A	32	5.141287	0.94560	.	.	ENSG00000196792	ENST00000355683;ENST00000357479;ENST00000554991	T;T	0.70045	-0.45;2.21	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	M	0.80183	2.485	0.80722	D	1	D;D	0.71674	0.998;0.981	D;D	0.65684	0.937;0.931	T	0.78160	-0.2312	10	0.18710	T	0.47	0.0844	15.9178	0.79535	1.0:0.0:0.0:0.0	.	305;305	Q13033-2;Q13033	.;STRN3_HUMAN	Y	305;305;23	ENSP00000347909:F305Y;ENSP00000350071:F305Y	ENSP00000347909:F305Y	F	-	2	0	STRN3	30474194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.953000	0.93041	2.162000	0.67917	0.459000	0.35465	TTT		0.418	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1		NM_014574	
TARSL2	123283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	102261432	102261432	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr15:102261432T>A	ENST00000335968.3	-	3	679	c.463A>T	c.(463-465)Aag>Tag	p.K155*		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	155					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.K155*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTATCCCCCTTTTTTCCATAA	0.408																																																	1	Substitution - Nonsense(1)	kidney(1)											227.0	208.0	214.0					15																	102261432		2203	4300	6503	SO:0001587	stop_gained	123283			AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.463A>T	15.37:g.102261432T>A	ENSP00000338093:p.Lys155*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Nonsense_Mutation	SNP	ENST00000335968.3	37	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.148403	0.78001	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	4.1	2.96	0.34315	.	0.347464	0.33457	N	0.004887	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-16.1715	3.9015	0.09164	0.0:0.115:0.2204:0.6645	.	.	.	.	X	155	.	ENSP00000329291:K155X	K	-	1	0	TARSL2	100078955	.	.	0.011000	0.14972	0.092000	0.18411	.	.	1.642000	0.50584	0.455000	0.32223	AAG		0.408	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3		NM_152334	
TCL6	27004	broad.mit.edu;hgsc.bcm.edu	37	14	96129988	96129988	+	RNA	SNP	T	T	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr14:96129988T>C	ENST00000467865.1	+	0	396				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GCCAGTTTCATGTCTTGTGAT	0.448			T	TRA@	T-ALL																																			Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	0													88.0	75.0	80.0					14																	96129988		2203	4300	6503			27004			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96129988T>C		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000467865.1	37																																																																																					0.448	TCL6-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000315133.1		NM_012468	
TMEM132D	121256	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	130184668	130184668	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr12:130184668G>T	ENST00000422113.2	-	2	981	c.655C>A	c.(655-657)Ccg>Acg	p.P219T	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	219					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P219T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCCCCTCCGGCTGGTCCACG	0.687																																																	1	Substitution - Missense(1)	kidney(1)											37.0	40.0	39.0					12																	130184668		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.655C>A	12.37:g.130184668G>T	ENSP00000408581:p.Pro219Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.495352	0.01009	.	.	ENSG00000151952	ENST00000422113	T	0.11604	2.76	5.35	0.645	0.17782	.	0.521615	0.18832	N	0.129936	T	0.08758	0.0217	L	0.60455	1.87	0.09310	N	1	B	0.18610	0.029	B	0.10450	0.005	T	0.28902	-1.0029	9	.	.	.	-7.5313	2.4855	0.04597	0.1323:0.3664:0.3417:0.1596	.	219	Q14C87	T132D_HUMAN	T	219	ENSP00000408581:P219T	.	P	-	1	0	TMEM132D	128750621	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.173000	0.09854	0.192000	0.20272	-0.188000	0.12872	CCG		0.687	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1		NM_133448	
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu	37	19	31768802	31768802	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr19:31768802C>A	ENST00000240587.4	-	2	2224	c.1897G>T	c.(1897-1899)Ggg>Tgg	p.G633W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	633					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G633W(1)|p.G450W(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAAAGCTTCCCATCCGGCTCC	0.582																																																	2	Substitution - Missense(2)	kidney(2)											38.0	42.0	40.0					19																	31768802		2203	4299	6502	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1897G>T	19.37:g.31768802C>A	ENSP00000240587:p.Gly633Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691420	0.48097	.	.	ENSG00000121297	ENST00000240587	T	0.51574	0.7	5.3	4.24	0.50183	.	0.230323	0.43579	D	0.000542	T	0.44180	0.1281	N	0.08118	0	0.58432	D	0.999998	D	0.63046	0.992	P	0.58577	0.841	T	0.54990	-0.8210	10	0.72032	D	0.01	-19.4077	14.3026	0.66362	0.0:0.9273:0.0:0.0727	.	633	Q63HK5	TSH3_HUMAN	W	633	ENSP00000240587:G633W	ENSP00000240587:G633W	G	-	1	0	TSHZ3	36460642	0.995000	0.38212	0.831000	0.32960	0.482000	0.33219	3.626000	0.54245	1.192000	0.43071	0.585000	0.79938	GGG		0.582	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856	
TTBK1	84630	broad.mit.edu;hgsc.bcm.edu	37	6	43252048	43252048	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr6:43252048C>A	ENST00000259750.4	+	14	3653	c.3570C>A	c.(3568-3570)agC>agA	p.S1190R		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1190				S -> SS (in Ref. 5; AAH36764). {ECO:0000305}.	substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S1190R(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCATCACCAGCAGGTGAGAAA	0.667																																																	1	Substitution - Missense(1)	kidney(1)											10.0	13.0	12.0					6																	43252048		1579	3191	4770	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.3570C>A	6.37:g.43252048C>A	ENSP00000259750:p.Ser1190Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217190	0.39201	.	.	ENSG00000146216	ENST00000259750	T	0.52983	0.64	5.3	4.42	0.53409	.	0.245550	0.28834	N	0.013994	T	0.44705	0.1306	L	0.54323	1.7	0.80722	D	1	D	0.59357	0.985	P	0.55055	0.767	T	0.44097	-0.9350	10	0.54805	T	0.06	.	10.5064	0.44836	0.0:0.9087:0.0:0.0913	.	1190	Q5TCY1	TTBK1_HUMAN	R	1190	ENSP00000259750:S1190R	ENSP00000259750:S1190R	S	+	3	2	TTBK1	43360026	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.770000	0.55310	2.488000	0.83962	0.561000	0.74099	AGC		0.667	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			
TTLL5	23093	hgsc.bcm.edu;ucsc.edu	37	14	76349240	76349240	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr14:76349240delT	ENST00000298832.9	+	30	3940	c.3735delT	c.(3733-3735)gctfs	p.A1245fs	TTLL5_ENST00000556893.1_Frame_Shift_Del_p.A796fs|TTLL5_ENST00000557636.1_Frame_Shift_Del_p.A1260fs|TTLL5_ENST00000554510.1_Frame_Shift_Del_p.A754fs	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1245					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCAGAAAGCTTCCAAGTAAG	0.428																																																	0													79.0	93.0	88.0					14																	76349240		2203	4300	6503	SO:0001589	frameshift_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3735delT	14.37:g.76349240delT	ENSP00000298832:p.Ala1245fs	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Frame_Shift_Del	DEL	ENST00000298832.9	37	CCDS32124.1																																																																																				0.428	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1		NM_015072	
TWF2	11344	broad.mit.edu;ucsc.edu	37	3	52273016	52273016	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr3:52273016C>T	ENST00000305533.5	-	1	260	c.17G>A	c.(16-18)gGc>gAc	p.G6D	TWF2_ENST00000499914.2_Missense_Mutation_p.G6D|TLR9_ENST00000597542.1_5'UTR|RP5-1157M23.2_ENST00000464958.1_RNA|RP5-1157M23.2_ENST00000483834.1_RNA	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	6	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)	p.G6D(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCGTGGATGCCCGTTTGGTG	0.751																																																	1	Substitution - Missense(1)	kidney(1)											11.0	12.0	12.0					3																	52273016		2015	4017	6032	SO:0001583	missense	11344			Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.17G>A	3.37:g.52273016C>T	ENSP00000303908:p.Gly6Asp	Somatic		WXS	Illumina GAIIx	Phase_I	Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250815	0.95305	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.41400	1.0;1.0	4.66	4.66	0.58398	Actin-binding, cofilin/tropomyosin type (1);	.	.	.	.	T	0.69424	0.3109	M	0.89601	3.045	0.51012	D	0.999908	D;D	0.71674	0.998;0.988	D;D	0.74348	0.983;0.91	T	0.76852	-0.2806	9	0.87932	D	0	.	14.3845	0.66934	0.0:1.0:0.0:0.0	.	6;6	D6RG15;Q6IBS0	.;TWF2_HUMAN	D	6	ENSP00000303908:G6D;ENSP00000426464:G6D	ENSP00000303908:G6D	G	-	2	0	TWF2	52248056	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	4.109000	0.57824	2.419000	0.82065	0.561000	0.74099	GGC		0.751	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000412938.1	37																																																																																					0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000412938.1	37																																																																																					0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			
XPO1	7514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61706022	61706022	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr2:61706022T>C	ENST00000401558.2	-	25	3876	c.3149A>G	c.(3148-3150)cAt>cGt	p.H1050R	XPO1_ENST00000404992.2_Missense_Mutation_p.H1050R|XPO1_ENST00000406957.1_Missense_Mutation_p.H1050R|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603652.1_RNA|RP11-355B11.2_ENST00000603199.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	1050					gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.H1050R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTGACGTTTATGTTTCTCTTC	0.378			Mis		CLL																																		-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	1	Substitution - Missense(1)	kidney(1)											156.0	154.0	155.0					2																	61706022		2203	4300	6503	SO:0001583	missense	7514			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.3149A>G	2.37:g.61706022T>C	ENSP00000384863:p.His1050Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	1.822	-0.471939	0.04445	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	N	0.00152	-1.975	0.54753	D	0.999983	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43637	-0.9379	9	0.02654	T	1	-20.0408	15.9952	0.80234	0.0:0.0:0.0:1.0	.	697;1050	B3KWD0;O14980	.;XPO1_HUMAN	R	1050	.	ENSP00000384863:H1050R	H	-	2	0	XPO1	61559526	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.256000	0.72473	2.172000	0.68678	0.533000	0.62120	CAT		0.378	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3		NM_003400	
ZFX	7543	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	24197791	24197791	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chrX:24197791G>A	ENST00000379177.1	+	6	977	c.550G>A	c.(550-552)Gac>Aac	p.D184N	ZFX_ENST00000379188.3_Missense_Mutation_p.D184N|ZFX_ENST00000540034.1_Missense_Mutation_p.D223N|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000338565.3_Missense_Mutation_p.D184N|ZFX_ENST00000304543.5_Missense_Mutation_p.D184N|ZFX_ENST00000539115.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	184					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.D184N(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATTGGTAGCAGACTGTGCCTC	0.453																																					Esophageal Squamous(20;306 562 7346 32868 37983)												1	Substitution - Missense(1)	kidney(1)											185.0	164.0	171.0					X																	24197791		2203	4300	6503	SO:0001583	missense	7543				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.550G>A	X.37:g.24197791G>A	ENSP00000368475:p.Asp184Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759133	0.49468	.	.	ENSG00000005889	ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	5.97	4.22	0.49857	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.64402	D	0.000001	T	0.55226	0.1907	L	0.35593	1.075	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.91635	0.999;0.999;0.995;0.999	T	0.49224	-0.8962	9	.	.	.	-36.5484	11.9816	0.53123	0.1426:0.0:0.8574:0.0	.	223;184;184;188	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	N	184;184;184;184;223;184	ENSP00000368486:D184N;ENSP00000368475:D184N;ENSP00000304985:D184N;ENSP00000441382:D223N;ENSP00000343384:D184N	.	D	+	1	0	ZFX	24107712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.094000	0.64523	0.668000	0.31126	0.600000	0.82982	GAC		0.453	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1		NM_003410	
ZNF415	55786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53612726	53612726	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr19:53612726T>C	ENST00000500065.4	-	4	905	c.572A>G	c.(571-573)aAt>aGt	p.N191S	ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.N239S|ZNF415_ENST00000421033.1_Missense_Mutation_p.N203S|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.N178S|ZNF415_ENST00000601493.1_5'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.N191S|ZNF415_ENST00000448501.1_Missense_Mutation_p.N239S|ZNF415_ENST00000597748.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N191S(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCCATATTTATTAGAAACATG	0.358																																																	1	Substitution - Missense(1)	kidney(1)											99.0	93.0	95.0					19																	53612726		2203	4300	6503	SO:0001583	missense	55786			AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.572A>G	19.37:g.53612726T>C	ENSP00000439435:p.Asn191Ser	Somatic		WXS	Illumina HiSeq	Phase_I	F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.958082	0.34565	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	2.74	-1.18	0.09617	.	.	.	.	.	T	0.17450	0.0419	L	0.39467	1.215	0.09310	N	1	B;B;B;B;B;D	0.58970	0.058;0.402;0.127;0.058;0.058;0.984	B;B;B;B;B;P	0.58454	0.017;0.171;0.014;0.017;0.042;0.839	T	0.13575	-1.0504	9	0.44086	T	0.13	.	3.8949	0.09135	0.0:0.144:0.4541:0.4019	.	191;239;239;191;178;203	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	S	191;191;239;203;239;178	ENSP00000243643:N191S;ENSP00000439435:N191S;ENSP00000396492:N239S;ENSP00000395055:N203S;ENSP00000388787:N239S;ENSP00000414601:N178S	ENSP00000243643:N191S	N	-	2	0	ZNF415	58304538	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.406000	0.07187	-0.501000	0.06605	0.260000	0.18958	AAT		0.358	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1		NM_018355	
ZSCAN20	7579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33956856	33956856	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5010-01A-02D-1421-08	TCGA-BP-5010-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	553cbe18-6dd3-4b34-b7fe-96a6dd2e6943	6df74e94-bcef-4451-93d9-381eb5804f28	g.chr1:33956856C>A	ENST00000361328.3	+	6	1151	c.998C>A	c.(997-999)aCt>aAt	p.T333N	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.T279N	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	333					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T333N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGACCAAGACTTTCCTGGCA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											60.0	67.0	65.0					1																	33956856		2009	4207	6216	SO:0001583	missense	7579			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.998C>A	1.37:g.33956856C>A	ENSP00000355053:p.Thr333Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.213592	0.79352	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.46451	0.87	5.74	5.74	0.90152	SANT domain, DNA binding (1);	0.090974	0.48286	D	0.000187	T	0.68622	0.3021	M	0.88512	2.96	0.38752	D	0.954126	D;D;D	0.69078	0.996;0.989;0.997	D;P;D	0.65323	0.925;0.836;0.934	T	0.76019	-0.3112	10	0.87932	D	0	-10.5363	15.8024	0.78463	0.0:1.0:0.0:0.0	.	333;279;333	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	N	279;333;279;267;267	ENSP00000362512:T279N	ENSP00000324450:T333N	T	+	2	0	ZSCAN20	33729443	0.995000	0.38212	1.000000	0.80357	0.997000	0.91878	4.237000	0.58681	2.884000	0.98904	0.655000	0.94253	ACT		0.517	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2		NM_145238	
