#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PXDNL	137902	broad.mit.edu	37	8	52321297	52321297	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:52321297C>T	ENST00000356297.4	-	17	2987	c.2887G>A	c.(2887-2889)Gag>Aag	p.E963K	PXDNL_ENST00000543296.1_Missense_Mutation_p.E963K	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	963					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCCAGATGCTCGTTGGCCCGG	0.652																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(2887-2889)Gag>Aag		peroxidasin homolog (Drosophila)-like							12.0	14.0	14.0					8																	52321297		1976	4143	6119	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321297C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2887G>A	8.37:g.52321297C>T	ENSP00000348645:p.Glu963Lys					PXDNL_ENST00000543296.1_Missense_Mutation_p.E963K	p.E963K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			17	2987	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	963					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2887G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635423	0.47049	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.72167	-0.63;-0.63	4.16	2.27	0.28462	.	0.251298	0.27306	N	0.019974	D	0.87204	0.6119	H	0.97415	4	0.36391	D	0.862549	D	0.89917	1.0	D	0.91635	0.999	D	0.86766	0.1970	10	0.87932	D	0	.	6.6901	0.23165	0.0:0.7115:0.1826:0.1059	.	963	A1KZ92	PXDNL_HUMAN	K	963	ENSP00000348645:E963K;ENSP00000444865:E963K	ENSP00000348645:E963K	E	-	1	0	PXDNL	52483850	1.000000	0.71417	0.001000	0.08648	0.024000	0.10985	5.100000	0.64560	0.198000	0.20407	0.655000	0.94253	GAG		0.652	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		7	14	0	0	0	1	0	7	14				
NFKBID	84807	broad.mit.edu	37	19	36386969	36386969	+	Silent	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:36386969G>C	ENST00000396901.1	-	9	1092	c.519C>G	c.(517-519)ctC>ctG	p.L173L	NFKBID_ENST00000352614.2_Silent_p.L325L|NFKBID_ENST00000606253.1_Silent_p.L173L|NFKBID_ENST00000585544.1_5'Flank	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	173					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						CCCGGGGACAGAGGTCGGAAG	0.622																																						ENST00000396901.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						c.(517-519)ctC>ctG		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta							91.0	106.0	101.0					19																	36386969		2068	4198	6266	SO:0001819	synonymous_variant	84807				inflammatory response	nucleus		g.chr19:36386969G>C	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.519C>G	19.37:g.36386969G>C						NFKBID_ENST00000606253.1_Silent_p.L173L|NFKBID_ENST00000352614.2_Silent_p.L325L	p.L173L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN			9	1092	-			173					Q8NI39|Q9BRG9	Silent	SNP	ENST00000396901.1	37	c.519C>G	CCDS42552.1																																																																																				0.622	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		12	107	0	0	0	1	0	12	107				
DISP1	84976	broad.mit.edu	37	1	223177528	223177528	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:223177528C>T	ENST00000284476.6	+	8	2953	c.2789C>T	c.(2788-2790)aCc>aTc	p.T930I		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	930					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTCCAGAGTACCTACCTCTTC	0.483																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(2788-2790)aCc>aTc		dispatched homolog 1 (Drosophila)							77.0	74.0	75.0					1																	223177528		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223177528C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.2789C>T	1.37:g.223177528C>T	ENSP00000284476:p.Thr930Ile						p.T930I	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2953	+			930					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.2789C>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775517	0.70107	.	.	ENSG00000154309	ENST00000284476	D	0.93076	-3.16	5.37	5.37	0.77165	.	0.086466	0.85682	D	0.000000	D	0.92528	0.7627	L	0.55481	1.735	0.80722	D	1	B	0.25850	0.136	B	0.32393	0.145	D	0.89618	0.3846	10	0.41790	T	0.15	-24.3415	19.464	0.94931	0.0:1.0:0.0:0.0	.	930	Q96F81	DISP1_HUMAN	I	930	ENSP00000284476:T930I	ENSP00000284476:T930I	T	+	2	0	DISP1	221244151	1.000000	0.71417	0.989000	0.46669	0.950000	0.60333	7.729000	0.84864	2.686000	0.91538	0.561000	0.74099	ACC		0.483	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		6	56	0	0	0	1	0	6	56				
C8orf74	203076	broad.mit.edu	37	8	10532168	10532168	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:10532168C>T	ENST00000304519.5	+	2	90	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W	RP1L1_ENST00000329335.3_Intron|C8orf74_ENST00000524025.1_3'UTR	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	21										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCACAAGGTCGGGAGCGCCT	0.572																																						ENST00000304519.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(61-63)Cgg>Tgg		chromosome 8 open reading frame 74							31.0	33.0	33.0					8																	10532168		1899	4116	6015	SO:0001583	missense	203076							g.chr8:10532168C>T	BC038534	CCDS47800.1	8p23.1	2012-04-17			ENSG00000171060	ENSG00000171060			32296	protein-coding gene	gene with protein product							Standard	NM_001040032		Approved		uc003wtd.1	Q6P047	OTTHUMG00000163807	ENST00000304519.5:c.61C>T	8.37:g.10532168C>T	ENSP00000307129:p.Arg21Trp					RP1L1_ENST00000329335.3_Intron|C8orf74_ENST00000524025.1_3'UTR	p.R21W	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	90	+			21					A2RUD6	Missense_Mutation	SNP	ENST00000304519.5	37	c.61C>T	CCDS47800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.13|14.13	2.442192|2.442192	0.43326|0.43326	.|.	.|.	ENSG00000171060|ENSG00000171060	ENST00000304519|ENST00000521818	T|.	0.38722|.	1.12|.	5.06|5.06	4.17|4.17	0.49024|0.49024	.|.	0.119189|.	0.38005|.	N|.	0.001843|.	T|T	0.56077|0.56077	0.1961|0.1961	M|M	0.71581|0.71581	2.175|2.175	0.21290|0.21290	N|N	0.999739|0.999739	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.48502|0.48502	-0.9030|-0.9030	10|5	0.87932|.	D|.	0|.	.|.	10.7784|10.7784	0.46363|0.46363	0.1903:0.8097:0.0:0.0|0.1903:0.8097:0.0:0.0	.|.	21|.	Q6P047|.	CH074_HUMAN|.	W|L	21|19	ENSP00000307129:R21W|.	ENSP00000307129:R21W|.	R|S	+|+	1|2	2|0	C8orf74|C8orf74	10569578|10569578	0.891000|0.891000	0.30450|0.30450	0.831000|0.831000	0.32960|0.32960	0.139000|0.139000	0.21198|0.21198	1.036000|1.036000	0.30228|0.30228	1.095000|1.095000	0.41419|0.41419	0.430000|0.430000	0.28490|0.28490	CGG|TCG		0.572	C8orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375675.1	NM_001040032		6	10	0	0	0	1	0	6	10				
FSCB	84075	broad.mit.edu	37	14	44974150	44974150	+	Missense_Mutation	SNP	C	C	T	rs150146536		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr14:44974150C>T	ENST00000340446.4	-	1	2332	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	681						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GACTGAACTTCAGCAGGGGCC	0.612																																						ENST00000340446.4																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(2041-2043)Gaa>Aaa		fibrous sheath CABYR binding protein							29.0	35.0	33.0					14																	44974150		2200	4300	6500	SO:0001583	missense	84075					cilium		g.chr14:44974150C>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2041G>A	14.37:g.44974150C>T	ENSP00000344579:p.Glu681Lys						p.E681K	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	2332	-			681					Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.2041G>A	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891194	0.33442	.	.	ENSG00000189139	ENST00000340446;ENST00000537803	T	0.14391	2.51	4.89	0.921	0.19403	.	.	.	.	.	T	0.12475	0.0303	L	0.58810	1.83	0.09310	N	1	P	0.46142	0.873	B	0.43225	0.412	T	0.17776	-1.0358	9	0.22109	T	0.4	-2.1643	2.8394	0.05524	0.1465:0.5441:0.1422:0.1672	.	681	Q5H9T9	FSCB_HUMAN	K	681;574	ENSP00000344579:E681K	ENSP00000344579:E681K	E	-	1	0	FSCB	44043900	0.002000	0.14202	0.001000	0.08648	0.030000	0.12068	0.519000	0.22862	0.064000	0.16427	0.505000	0.49811	GAA		0.612	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		9	40	0	0	0	1	0	9	40				
SCAF1	58506	broad.mit.edu	37	19	50157947	50157947	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:50157947G>T	ENST00000360565.3	+	9	3562	c.3438G>T	c.(3436-3438)atG>atT	p.M1146I		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1146			M -> T (in dbSNP:rs2304208).		mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GTCTGGGGATGACCCCAGCTC	0.652																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3436-3438)atG>atT		SR-related CTD-associated factor 1							114.0	94.0	101.0					19																	50157947		2203	4300	6503	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50157947G>T	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3438G>T	19.37:g.50157947G>T	ENSP00000353769:p.Met1146Ile						p.M1146I	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	9	3562	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1146		M -> T (in dbSNP:rs2304208).			Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.3438G>T	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	g	11.34	1.610013	0.28712	.	.	ENSG00000126461	ENST00000360565	T	0.28666	1.6	5.22	4.16	0.48862	.	0.279825	0.23263	N	0.050113	T	0.14787	0.0357	N	0.08118	0	0.19300	N	0.99998	B	0.02656	0.0	B	0.04013	0.001	T	0.17107	-1.0380	10	0.26408	T	0.33	-9.3724	8.9867	0.35999	0.0:0.2692:0.5803:0.1505	.	1146	Q9H7N4	SFR19_HUMAN	I	1146	ENSP00000353769:M1146I	ENSP00000353769:M1146I	M	+	3	0	SCAF1	54849759	0.925000	0.31364	0.991000	0.47740	0.993000	0.82548	0.369000	0.20416	1.402000	0.46780	0.651000	0.88453	ATG		0.652	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		17	154	1	0	2.4624e-09	1	2.78358e-09	17	154				
CHRD	8646	broad.mit.edu	37	3	184101126	184101126	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:184101126G>A	ENST00000204604.1	+	11	1486	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	CHRD_ENST00000545352.1_Missense_Mutation_p.D44N|CHRD_ENST00000348986.3_Missense_Mutation_p.D414N|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.D414N	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	414	CHRD 3. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGTGGGGCTGATGCCCTGAT	0.607																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1240-1242)Gat>Aat		chordin							85.0	78.0	80.0					3																	184101126		2203	4300	6503	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184101126G>A	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1240G>A	3.37:g.184101126G>A	ENSP00000204604:p.Asp414Asn					EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.D414N|CHRD_ENST00000545352.1_Missense_Mutation_p.D44N|CHRD_ENST00000450923.1_Missense_Mutation_p.D414N	p.D414N	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	1486	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		414			CHRD 3.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1240G>A	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392020	0.83011	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.40225	1.04;1.04;2.45;1.04	4.65	4.65	0.58169	CHRD (3);	0.057280	0.64402	D	0.000002	T	0.58666	0.2138	L	0.53249	1.67	0.52501	D	0.999959	B;D;B;D	0.76494	0.143;0.996;0.437;0.999	B;D;B;D	0.74674	0.299;0.921;0.349;0.984	T	0.55685	-0.8102	10	0.33940	T	0.23	-11.9283	16.5167	0.84302	0.0:0.0:1.0:0.0	.	44;414;414;414	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	N	414;414;414;44;127	ENSP00000204604:D414N;ENSP00000408972:D414N;ENSP00000334036:D414N;ENSP00000442948:D44N	ENSP00000204604:D414N	D	+	1	0	CHRD	185583820	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	5.200000	0.65158	2.306000	0.77630	0.462000	0.41574	GAT		0.607	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		22	126	0	0	0	1	0	22	126				
SLC50A1	55974	broad.mit.edu	37	1	155108444	155108444	+	Silent	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:155108444C>G	ENST00000368404.4	+	1	119	c.57C>G	c.(55-57)acC>acG	p.T19T	SLC50A1_ENST00000303343.8_Silent_p.T19T|SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000368401.5_Missense_Mutation_p.P6A|SLC50A1_ENST00000368405.3_3'UTR	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	19	MtN3/slv 1.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TGGTCTTCACCCTTGGCATGT	0.652																																						ENST00000368401.5																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(16-18)Cct>Gct		solute carrier family 50 (sugar efflux transporter), member 1							36.0	34.0	35.0					1																	155108444		2203	4300	6503	SO:0001819	synonymous_variant	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155108444C>G	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.57C>G	1.37:g.155108444C>G						SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000484157.1_Intron|SLC50A1_ENST00000368404.4_Silent_p.T19T|SLC50A1_ENST00000303343.8_Silent_p.T19T	p.P6A	NM_001122837.1	NP_001116309.1	Q9BRV3	SWET1_HUMAN			1	111	+			0					Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	ENST00000368404.4	37	c.16C>G	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858348	0.51376	.	.	ENSG00000169241	ENST00000368401	.	.	.	4.85	3.92	0.45320	.	.	.	.	.	T	0.21186	0.0510	.	.	.	0.23361	N	0.997839	B	0.32101	0.356	B	0.35182	0.197	T	0.19418	-1.0306	7	0.87932	D	0	-17.9651	10.7185	0.46026	0.1911:0.8089:0.0:0.0	.	6	Q9BRV3-2	.	A	6	.	ENSP00000357386:P6A	P	+	1	0	SLC50A1	153375068	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	1.541000	0.36126	1.152000	0.42452	-0.181000	0.13052	CCT		0.652	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		7	38	0	0	0	1	0	7	38				
MYO1F	4542	broad.mit.edu	37	19	8592316	8592316	+	Silent	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:8592316G>T	ENST00000338257.8	-	22	2647	c.2380C>A	c.(2380-2382)Cga>Aga	p.R794R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	794	Myosin tail. {ECO:0000255}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ACTTTCTCTCGCCCAATCACA	0.562																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(2380-2382)Cga>Aga		myosin IF							83.0	83.0	83.0					19																	8592316		2007	4186	6193	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8592316G>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2380C>A	19.37:g.8592316G>T							p.R794R	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			22	2647	-			794					Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.2380C>A	CCDS42494.1																																																																																				0.562	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			4	28	1	0	0.00909568	1	0.00933504	4	28				
NOD1	10392	broad.mit.edu	37	7	30491745	30491745	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:30491745C>T	ENST00000222823.4	-	6	1813	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	430	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						AGATGGACCTCAGTGACCAGG	0.622																																						ENST00000222823.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						c.(1288-1290)Gag>Aag		nucleotide-binding oligomerization domain containing 1							63.0	60.0	61.0					7																	30491745		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30491745C>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.1288G>A	7.37:g.30491745C>T	ENSP00000222823:p.Glu430Lys						p.E430K	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN			6	1813	-			430			NACHT.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.1288G>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142178	0.77775	.	.	ENSG00000106100	ENST00000222823	T	0.70631	-0.5	5.71	5.71	0.89125	NACHT nucleoside triphosphatase (1);	0.000000	0.85682	D	0.000000	D	0.82930	0.5144	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.78219	-0.2289	10	0.20046	T	0.44	.	18.8588	0.92264	0.0:1.0:0.0:0.0	.	430	Q9Y239	NOD1_HUMAN	K	430	ENSP00000222823:E430K	ENSP00000222823:E430K	E	-	1	0	NOD1	30458270	1.000000	0.71417	0.998000	0.56505	0.316000	0.28119	7.818000	0.86416	2.691000	0.91804	0.563000	0.77884	GAG		0.622	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			22	90	0	0	0	1	0	22	90				
SYK	6850	broad.mit.edu	37	9	93624537	93624537	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:93624537G>A	ENST00000375754.4	+	4	776	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	SYK_ENST00000375746.1_Missense_Mutation_p.E210K|SYK_ENST00000375747.1_Missense_Mutation_p.E210K|SYK_ENST00000375751.4_Missense_Mutation_p.E210K	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	210	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCTGCTGCACGAAGGGAAGGT	0.587			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(628-630)Gaa>Aaa		spleen tyrosine kinase							106.0	82.0	91.0					9																	93624537		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93624537G>A	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.628G>A	9.37:g.93624537G>A	ENSP00000364907:p.Glu210Lys					SYK_ENST00000375751.4_Missense_Mutation_p.E210K|SYK_ENST00000375746.1_Missense_Mutation_p.E210K|SYK_ENST00000375747.1_Missense_Mutation_p.E210K	p.E210K	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			4	776	+			210			SH2 2.			Missense_Mutation	SNP	ENST00000375754.4	37	c.628G>A	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241060	0.58995	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	4.89	4.89	0.63831	SH2 motif (5);	0.171165	0.53938	D	0.000056	T	0.82056	0.4954	N	0.04959	-0.14	0.49483	D	0.999792	P;P;P	0.48350	0.812;0.909;0.54	B;B;B	0.40565	0.164;0.333;0.104	T	0.82092	-0.0628	10	0.13108	T	0.6	.	16.9994	0.86378	0.0:0.0:1.0:0.0	.	210;210;210	P43405-2;P43405;C3W981	.;KSYK_HUMAN;.	K	210	ENSP00000364907:E210K;ENSP00000364904:E210K;ENSP00000364899:E210K;ENSP00000364898:E210K	ENSP00000364898:E210K	E	+	1	0	SYK	92664358	1.000000	0.71417	0.983000	0.44433	0.773000	0.43773	6.509000	0.73725	2.555000	0.86185	0.643000	0.83706	GAA		0.587	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			5	35	0	0	0	1	0	5	35				
COQ5	84274	broad.mit.edu	37	12	120960070	120960070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr12:120960070C>T	ENST00000288532.6	-	2	339	c.299G>A	c.(298-300)tGg>tAg	p.W100*	COQ5_ENST00000445328.2_Nonsense_Mutation_p.W100*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	100					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCATCTTCCAGAGCAGCAA	0.453																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(298-300)tGg>tAg		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							186.0	148.0	161.0					12																	120960070		2203	4300	6503	SO:0001587	stop_gained	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120960070C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.299G>A	12.37:g.120960070C>T	ENSP00000288532:p.Trp100*					COQ5_ENST00000445328.2_Nonsense_Mutation_p.W100*	p.W100*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			2	339	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		100					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Nonsense_Mutation	SNP	ENST00000288532.6	37	c.299G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208614	0.79240	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000552443;ENST00000551769;ENST00000547736	.	.	.	5.91	1.48	0.22813	.	0.781386	0.12754	N	0.441928	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	1.453	0.02379	0.1588:0.4202:0.1568:0.2642	.	.	.	.	X	100;100;100;19;19;74	.	ENSP00000288532:W100X	W	-	2	0	COQ5	119444453	0.997000	0.39634	0.695000	0.30226	0.936000	0.57629	1.298000	0.33412	0.389000	0.25086	0.462000	0.41574	TGG		0.453	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		11	54	0	0	0	1	0	11	54				
IKBKE	9641	broad.mit.edu	37	1	206665080	206665080	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:206665080G>A	ENST00000367120.3	+	18	2206	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	C1orf147_ENST00000367119.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.M526I	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	611	Interaction with DDX3X.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCAAGAGGATGAGGTAACAGC	0.582																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(1831-1833)atG>atA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							79.0	75.0	77.0					1																	206665080		2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206665080G>A	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.1833G>A	1.37:g.206665080G>A	ENSP00000356087:p.Met611Ile					C1orf147_ENST00000367119.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.M526I|IKBKE_ENST00000462698.1_3'UTR	p.M611I	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			18	2206	+	Breast(84;0.137)		611					D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.1833G>A	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003995	0.35320	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.16324	2.35;2.35	5.55	4.64	0.57946	.	0.090762	0.85682	D	0.000000	T	0.18718	0.0449	M	0.62723	1.935	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.003;0.005	T	0.02766	-1.1113	10	0.37606	T;T	0.19;0.19	-0.2027	10.0325	0.42109	0.092:0.0:0.908:0.0	.	526;611	Q3B754;Q14164	.;IKKE_HUMAN	I	611;526	ENSP00000356087:M611I;ENSP00000444529:M526I	ENSP00000356087:M611I;ENSP00000356087:M611I	M	+	3	0	IKBKE	204731703	1.000000	0.71417	0.996000	0.52242	0.557000	0.35523	1.424000	0.34848	1.344000	0.45657	0.561000	0.74099	ATG		0.582	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			13	63	0	0	0	1	0	13	63				
PLXNA1	5361	broad.mit.edu	37	3	126741158	126741158	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:126741158G>C	ENST00000393409.2	+	21	4269	c.4269G>C	c.(4267-4269)aaG>aaC	p.K1423N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.K1400N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1423					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGAGAGCAAGAACCACCCCA	0.632																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4198-4200)aaG>aaC		plexin A1							61.0	61.0	61.0					3																	126741158		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126741158G>C	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4269G>C	3.37:g.126741158G>C	ENSP00000377061:p.Lys1423Asn					PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1423N	p.K1400N			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	21	4269	+			1423						Missense_Mutation	SNP	ENST00000393409.2	37	c.4200G>C	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	17.11	3.306606	0.60305	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.16897	2.31;2.31	3.2	3.2	0.36748	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.189932	0.34435	N	0.003976	T	0.42944	0.1225	M	0.89968	3.075	0.58432	D	0.999999	D	0.53885	0.963	D	0.64321	0.924	T	0.48692	-0.9013	10	0.66056	D	0.02	.	9.5504	0.39306	0.1013:0.0:0.8987:0.0	.	1423	Q9UIW2	PLXA1_HUMAN	N	1423;1400	ENSP00000377061:K1423N;ENSP00000251772:K1400N	ENSP00000251772:K1400N	K	+	3	2	PLXNA1	128223848	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.686000	0.61700	2.099000	0.63709	0.467000	0.42956	AAG		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		15	54	0	0	0	1	0	15	54				
ALX4	60529	broad.mit.edu	37	11	44286713	44286713	+	Silent	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:44286713G>T	ENST00000329255.3	-	4	1030	c.927C>A	c.(925-927)ctC>ctA	p.L309L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	309					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L309L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGTTGTTGCCGAGCCAGGACG	0.692																																						ENST00000329255.3																			1	Substitution - coding silent(1)	p.L309L(1)	lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(925-927)ctC>ctA		ALX homeobox 4							17.0	16.0	16.0					11																	44286713		2154	4218	6372	SO:0001819	synonymous_variant	60529				hair follicle development			g.chr11:44286713G>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.927C>A	11.37:g.44286713G>T							p.L309L	NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN			4	1030	-			309					Q96JN7|Q9H198|Q9HAY9	Silent	SNP	ENST00000329255.3	37	c.927C>A	CCDS31468.1																																																																																				0.692	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1			3	23	1	0	0.115264	1	0.116008	3	23				
LRRC15	131578	broad.mit.edu	37	3	194080671	194080671	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:194080671G>T	ENST00000347624.3	-	2	1187	c.1102C>A	c.(1102-1104)Cag>Aag	p.Q368K	LRRC15_ENST00000428839.1_Missense_Mutation_p.Q374K|LRRC15_ENST00000439944.2_Missense_Mutation_p.Q374K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	368					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GAGATGTTCTGCAGGTTGGCC	0.592																																						ENST00000347624.3																			0				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1102-1104)Cag>Aag		leucine rich repeat containing 15							66.0	63.0	64.0					3																	194080671		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080671G>T	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1102C>A	3.37:g.194080671G>T	ENSP00000306276:p.Gln368Lys					LRRC15_ENST00000439944.2_Missense_Mutation_p.Q374K|LRRC15_ENST00000428839.1_Missense_Mutation_p.Q374K	p.Q368K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1187	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		368					Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1102C>A	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.051189	0.36181	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.53640	0.61;0.61;0.61	5.01	4.13	0.48395	.	0.230154	0.30704	N	0.009054	T	0.29126	0.0724	N	0.13272	0.32	0.30688	N	0.751603	B;P	0.34724	0.381;0.465	B;B	0.28232	0.087;0.077	T	0.15809	-1.0424	10	0.29301	T	0.29	.	15.2892	0.73854	0.0:0.0:0.8592:0.1408	.	368;374	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	K	368;374;374	ENSP00000306276:Q368K;ENSP00000389128:Q374K;ENSP00000413707:Q374K	ENSP00000306276:Q368K	Q	-	1	0	LRRC15	195561966	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.858000	0.55979	1.225000	0.43566	0.655000	0.94253	CAG		0.592	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			21	65	1	0	0.00188189	1	0.00199711	21	65				
UGT2B11	10720	broad.mit.edu	37	4	70070367	70070367	+	Splice_Site	SNP	C	C	T	rs146890806	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:70070367C>T	ENST00000446444.1	-	5	1099	c.1091G>A	c.(1090-1092)gGt>gAt	p.G364D	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	364					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTTGGATGACCTAGGATTGG	0.373													.|||	15	0.00299521	0.0008	0.0101	5008	,	,		19385	0.0		0.005	False		,,,				2504	0.002					ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.e5-1		UDP glucuronosyltransferase 2 family, polypeptide B11		C	ASP/GLY	8,4156		0,8,2074	37.0	40.0	39.0		1091	2.0	1.0	4	dbSNP_134	39	47,8127		0,47,4040	no	missense-near-splice	UGT2B11	NM_001073.1	94	0,55,6114	TT,TC,CC		0.575,0.1921,0.4458	probably-damaging	364/530	70070367	55,12283	2082	4087	6169	SO:0001630	splice_region_variant	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70070367C>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1091-1G>A	4.37:g.70070367C>T						RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	p.G364_splice	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			5	1099	-			364					Q3KNV9	Splice_Site	SNP	ENST00000446444.1	37	c.1090_splice	CCDS3527.1	12	0.005494505494505495	0	0.0	6	0.016574585635359115	0	0.0	6	0.0079155672823219	-	11.31	1.601986	0.28534	0.001921	0.00575	ENSG00000213759	ENST00000446444	T	0.66280	-0.2	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000001	T	0.69033	0.3066	M	0.92122	3.275	0.29966	N	0.81893	D	0.89917	1.0	D	0.91635	0.999	T	0.72769	-0.4193	10	0.87932	D	0	.	9.5515	0.39313	0.0:1.0:0.0:0.0	.	364	O75310	UDB11_HUMAN	D	364	ENSP00000387683:G364D	ENSP00000387683:G364D	G	-	2	0	UGT2B11	70104956	0.996000	0.38824	0.974000	0.42286	0.156000	0.22039	1.465000	0.35299	1.087000	0.41251	0.184000	0.17185	GGT		0.373	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	Missense_Mutation	4	82	0	0	0	1	0	4	82				
ABT1	29777	broad.mit.edu	37	6	26597435	26597435	+	Silent	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:26597435C>G	ENST00000274849.1	+	1	256	c.225C>G	c.(223-225)gtC>gtG	p.V75V		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	75	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGGACGCGTCTTCTTTCAGG	0.627																																						ENST00000274849.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(223-225)gtC>gtG		activator of basal transcription 1							42.0	46.0	45.0					6																	26597435		2203	4300	6503	SO:0001819	synonymous_variant	29777				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity	g.chr6:26597435C>G	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.225C>G	6.37:g.26597435C>G							p.V75V	NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN			1	256	+			75			RRM.			Silent	SNP	ENST00000274849.1	37	c.225C>G	CCDS4616.1																																																																																				0.627	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			17	57	0	0	0	1	0	17	57				
NNMT	4837	broad.mit.edu	37	11	114182777	114182777	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:114182777C>A	ENST00000535401.1	+	5	637	c.373C>A	c.(373-375)Cca>Aca	p.P125T	NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P125T|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000542647.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	125					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	AGTCAAGGGTCCAGAGAAGGA	0.537																																						ENST00000535401.1																			0				kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(373-375)Cca>Aca		nicotinamide N-methyltransferase	Niacin(DB00627)						72.0	71.0	72.0					11																	114182777		2201	4296	6497	SO:0001583	missense	4837				xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity	g.chr11:114182777C>A	U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.373C>A	11.37:g.114182777C>A	ENSP00000441434:p.Pro125Thr					NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P125T|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'UTR	p.P125T			P40261	NNMT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	5	637	+		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	125						Missense_Mutation	SNP	ENST00000535401.1	37	c.373C>A	CCDS8368.1	.	.	.	.	.	.	.	.	.	.	C	8.056	0.767136	0.15983	.	.	ENSG00000166741	ENST00000535401;ENST00000299964	T;T	0.03212	4.01;4.01	5.11	1.86	0.25419	.	0.492860	0.17852	N	0.159834	T	0.01592	0.0051	N	0.08118	0	0.18873	N	0.999984	B	0.02656	0.0	B	0.06405	0.002	T	0.47699	-0.9097	10	0.16896	T	0.51	-14.4837	2.2975	0.04153	0.2838:0.3906:0.2283:0.0973	.	125	P40261	NNMT_HUMAN	T	125	ENSP00000441434:P125T;ENSP00000299964:P125T	ENSP00000299964:P125T	P	+	1	0	NNMT	113687987	0.087000	0.21565	0.098000	0.21074	0.905000	0.53344	0.500000	0.22562	1.131000	0.42111	0.655000	0.94253	CCA		0.537	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398951.1	NM_006169		12	66	1	0	0.00010058	1	0.000108962	12	66				
FUNDC2	65991	broad.mit.edu	37	X	154261754	154261754	+	Silent	SNP	C	C	T	rs147164809		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:154261754C>T	ENST00000369498.3	+	2	464	c.210C>T	c.(208-210)ttC>ttT	p.F70F	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	70						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTAAGCTGTTCGGGCAGGAAT	0.458																																						ENST00000369498.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13						c.(208-210)ttC>ttT		FUN14 domain containing 2		C		0,3835		0,0,1632,571	125.0	110.0	115.0		210	-0.8	0.9	X	dbSNP_134	115	1,6727		0,1,2427,1872	no	coding-synonymous	FUNDC2	NM_023934.3		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		70/190	154261754	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	65991					mitochondrion		g.chrX:154261754C>T	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.210C>T	X.37:g.154261754C>T						FUNDC2_ENST00000484175.1_3'UTR	p.F70F	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN			2	464	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		70					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Silent	SNP	ENST00000369498.3	37	c.210C>T	CCDS14763.1																																																																																				0.458	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934		28	63	0	0	0	1	0	28	63				
SERPINE1	5054	broad.mit.edu	37	7	100771697	100771697	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:100771697C>G	ENST00000223095.4	+	2	180	c.23C>G	c.(22-24)aCc>aGc	p.T8S	SERPINE1_ENST00000445463.2_Missense_Mutation_p.T8S	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	8					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCAGCCCTCACCTGCCTAGTC	0.617																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(22-24)aCc>aGc		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						121.0	94.0	103.0					7																	100771697		2203	4300	6503	SO:0001583	missense	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100771697C>G	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.23C>G	7.37:g.100771697C>G	ENSP00000223095:p.Thr8Ser					SERPINE1_ENST00000445463.2_Missense_Mutation_p.T8S	p.T8S	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			2	180	+	Lung NSC(181;0.136)|all_lung(186;0.182)		8					B7Z4S0|F8WD53	Missense_Mutation	SNP	ENST00000223095.4	37	c.23C>G	CCDS5711.1	.	.	.	.	.	.	.	.	.	.	C	9.407	1.079477	0.20227	.	.	ENSG00000106366	ENST00000223095;ENST00000445463;ENST00000441467	D;D	0.84589	-1.77;-1.87	5.27	4.38	0.52667	Serpin domain (1);	0.775864	0.12281	N	0.482848	T	0.71451	0.3341	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.18561	0.022;0.004	T	0.59273	-0.7485	10	0.31617	T	0.26	.	10.5204	0.44916	0.0:0.9089:0.0:0.0911	.	8;8	F8WD53;P05121	.;PAI1_HUMAN	S	8	ENSP00000223095:T8S;ENSP00000396766:T8S	ENSP00000223095:T8S	T	+	2	0	SERPINE1	100558417	0.948000	0.32251	0.861000	0.33841	0.040000	0.13550	0.760000	0.26475	1.339000	0.45563	0.655000	0.94253	ACC		0.617	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		15	75	0	0	0	1	0	15	75				
ZNF208	7757	broad.mit.edu	37	19	22155963	22155963	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:22155963T>A	ENST00000397126.4	-	4	2021	c.1873A>T	c.(1873-1875)Act>Tct	p.T625S	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTATGTGTAGTAAGGGTTGAG	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(1873-1875)Act>Tct		zinc finger protein 208							72.0	79.0	77.0					19																	22155963		2105	4250	6355	SO:0001583	missense	7757							g.chr19:22155963T>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1873A>T	19.37:g.22155963T>A	ENSP00000380315:p.Thr625Ser					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.T625S	NM_007153.3	NP_009084.2					4	2021	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.1873A>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	3.858	-0.030547	0.07543	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.35605	1.3	2.66	0.0752	0.14398	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14356	0.0347	.	.	.	0.09310	N	1	P	0.34800	0.469	B	0.34242	0.178	T	0.18461	-1.0336	8	0.08381	T	0.77	.	2.6121	0.04894	0.1986:0.2536:0.0:0.5478	.	525	O43345	ZN208_HUMAN	S	625;525	ENSP00000380315:T625S	ENSP00000380315:T625S	T	-	1	0	ZNF208	21947803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.183000	0.09712	0.001000	0.14605	0.254000	0.18369	ACT		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		8	37	0	0	0	1	0	8	37				
IGFL3	388555	broad.mit.edu	37	19	46627174	46627174	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:46627174G>C	ENST00000341415.2	-	3	343	c.319C>G	c.(319-321)Cac>Gac	p.H107D	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	107						extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GGAGATAAGTGACACTGAGAC	0.517																																						ENST00000341415.2																			0				endometrium(1)|large_intestine(1)|lung(5)	7						c.(319-321)Cac>Gac		IGF-like family member 3							144.0	170.0	161.0					19																	46627174		2189	4300	6489	SO:0001583	missense	388555					extracellular region	protein binding	g.chr19:46627174G>C	AY358434	CCDS33058.1	19q13.32	2006-07-14				ENSG00000188624			32930	protein-coding gene	gene with protein product		610546				14702039	Standard	NM_207393		Approved	UNQ483	uc002pea.1	Q6UXB1		ENST00000341415.2:c.319C>G	19.37:g.46627174G>C	ENSP00000344860:p.His107Asp					AC007193.6_ENST00000597989.1_lincRNA	p.H107D	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)	3	343	-		Ovarian(192;0.0175)|all_neural(266;0.0476)	107						Missense_Mutation	SNP	ENST00000341415.2	37	c.319C>G	CCDS33058.1	.	.	.	.	.	.	.	.	.	.	G	1.802	-0.476738	0.04414	.	.	ENSG00000188624	ENST00000341415	T	0.21932	1.98	1.43	-2.13	0.07144	.	.	.	.	.	T	0.10680	0.0261	N	0.25647	0.755	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.31641	-0.9936	9	0.32370	T	0.25	-1.0003	1.6453	0.02761	0.3666:0.0:0.3126:0.3207	.	107	Q6UXB1	IGFL3_HUMAN	D	107	ENSP00000344860:H107D	ENSP00000344860:H107D	H	-	1	0	IGFL3	51319014	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.628000	0.05515	-0.618000	0.05656	0.411000	0.27672	CAC		0.517	IGFL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421323.1	NM_207393		27	217	0	0	0	1	0	27	217				
EMID1	129080	broad.mit.edu	37	22	29629429	29629429	+	Silent	SNP	T	T	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr22:29629429T>G	ENST00000404820.3	+	9	1012	c.885T>G	c.(883-885)acT>acG	p.T295T	EMID1_ENST00000404755.3_Silent_p.T295T|EMID1_ENST00000334018.6_Silent_p.T295T|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	293	Collagen-like.					collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						AGGGACCCACTGGGCCTCCAG	0.572																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(883-885)acT>acG		EMI domain containing 1							143.0	154.0	150.0					22																	29629429		2203	4300	6503	SO:0001819	synonymous_variant	129080					collagen		g.chr22:29629429T>G	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.885T>G	22.37:g.29629429T>G						EMID1_ENST00000404755.3_Silent_p.T295T|EMID1_ENST00000404820.3_Silent_p.T295T|EMID1_ENST00000484039.1_3'UTR	p.T295T	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			9	1073	+			293			Collagen-like.		B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	ENST00000404820.3	37	c.885T>G		.	.	.	.	.	.	.	.	.	.	T	9.256	1.041906	0.19748	.	.	ENSG00000186998	ENST00000433143	.	.	.	4.79	1.21	0.21127	.	.	.	.	.	T	0.51398	0.1672	.	.	.	0.41778	D	0.9898	.	.	.	.	.	.	T	0.39840	-0.9594	4	.	.	.	0.8589	5.1836	0.15173	0.0:0.1008:0.3904:0.5088	.	.	.	.	R	158	.	.	L	+	2	0	EMID1	27959429	0.000000	0.05858	0.796000	0.32109	0.982000	0.71751	-0.932000	0.03963	0.317000	0.23160	-0.316000	0.08728	CTG		0.572	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		18	258	0	0	0	1	0	18	258				
ZNF546	339327	broad.mit.edu	37	19	40520014	40520014	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:40520014G>A	ENST00000347077.4	+	7	1053	c.837G>A	c.(835-837)ggG>ggA	p.G279G	ZNF546_ENST00000600094.1_Silent_p.G253G|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGAATGTGGGAAGGCCTTTA	0.438																																						ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(835-837)ggG>ggA		zinc finger protein 546							108.0	108.0	108.0					19																	40520014		2203	4300	6503	SO:0001819	synonymous_variant	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40520014G>A	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.837G>A	19.37:g.40520014G>A						ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.G253G	p.G279G	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	1053	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		279					A8K913	Silent	SNP	ENST00000347077.4	37	c.837G>A	CCDS12548.1																																																																																				0.438	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		8	81	0	0	0	1	0	8	81				
ZNF707	286075	broad.mit.edu	37	8	144776523	144776523	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:144776523G>C	ENST00000532205.1	+	8	1838	c.939G>C	c.(937-939)gaG>gaC	p.E313D	ZNF707_ENST00000358656.4_Missense_Mutation_p.E313D|ZNF707_ENST00000454097.1_Missense_Mutation_p.E313D|ZNF707_ENST00000532158.1_Missense_Mutation_p.E313D|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000418203.2_Missense_Mutation_p.E313D			Q96C28	ZN707_HUMAN	zinc finger protein 707	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGCGGGGAGAAGCCCTACA	0.652																																						ENST00000532205.1																			0				breast(1)	1						c.(937-939)gaG>gaC		zinc finger protein 707							30.0	38.0	35.0					8																	144776523		2170	4279	6449	SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776523G>C	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.939G>C	8.37:g.144776523G>C	ENSP00000436212:p.Glu313Asp					ZNF707_ENST00000358656.4_Missense_Mutation_p.E313D|ZNF707_ENST00000418203.2_Missense_Mutation_p.E313D|ZNF707_ENST00000532158.1_Missense_Mutation_p.E313D|ZNF707_ENST00000454097.1_Missense_Mutation_p.E313D	p.E313D			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1838	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		313					A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	c.939G>C	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140893	0.56936	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	2.86	1.97	0.26223	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37625	0.1010	L	0.46885	1.475	0.35538	D	0.802822	D;D	0.76494	0.988;0.999	D;D	0.83275	0.934;0.996	T	0.38628	-0.9652	8	.	.	.	-21.8712	7.2205	0.25983	0.1422:0.0:0.8578:0.0	.	238;313	B4DV46;Q96C28	.;ZN707_HUMAN	D	313	ENSP00000409029:E313D;ENSP00000351482:E313D;ENSP00000436250:E313D;ENSP00000436212:E313D;ENSP00000413215:E313D	.	E	+	3	2	ZNF707	144848511	0.934000	0.31675	0.994000	0.49952	0.299000	0.27559	1.315000	0.33608	0.381000	0.24851	0.563000	0.77884	GAG		0.652	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		5	47	0	0	0	1	0	5	47				
USP34	9736	broad.mit.edu	37	2	61566505	61566505	+	Missense_Mutation	SNP	C	C	G	rs377463383		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:61566505C>G	ENST00000398571.2	-	18	2801	c.2725G>C	c.(2725-2727)Gaa>Caa	p.E909Q		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	909					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCCAAGTTTTCAAGGCAACCT	0.348																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2725-2727)Gaa>Caa		ubiquitin specific peptidase 34		C	GLN/GLU	0,3606		0,0,1803	86.0	78.0	81.0		2725	5.8	1.0	2		81	1,8137		0,1,4068	no	missense	USP34	NM_014709.3	29	0,1,5871	GG,GC,CC		0.0123,0.0,0.0085	possibly-damaging	909/3547	61566505	1,11743	1803	4069	5872	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61566505C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2725G>C	2.37:g.61566505C>G	ENSP00000381577:p.Glu909Gln						p.E909Q	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		18	2801	-			909					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.2725G>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466582	0.63625	0.0	1.23E-4	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04119	3.7	5.85	5.85	0.93711	.	0.050439	0.85682	D	0.000000	T	0.04407	0.0121	N	0.20685	0.6	0.58432	D	0.999999	P	0.41673	0.759	B	0.32465	0.146	T	0.52586	-0.8556	10	0.41790	T	0.15	.	20.1663	0.98152	0.0:1.0:0.0:0.0	.	909	Q70CQ2	UBP34_HUMAN	Q	757;757;909	ENSP00000381577:E909Q	ENSP00000263989:E757Q	E	-	1	0	USP34	61420009	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.773000	0.95371	0.585000	0.79938	GAA		0.348	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			4	32	0	0	0	1	0	4	32				
DPP7	29952	broad.mit.edu	37	9	140007845	140007845	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:140007845C>T	ENST00000371579.2	-	5	593	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	197						cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TGGTTGGAGTCGCCGAGGCCT	0.667																																						ENST00000371579.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						c.(589-591)Gac>Aac		dipeptidyl-peptidase 7							33.0	39.0	37.0					9																	140007845		2203	4299	6502	SO:0001583	missense	29952					cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	g.chr9:140007845C>T	AF154502	CCDS7030.1	9q34.3	2008-02-05	2006-01-12		ENSG00000176978	ENSG00000176978			14892	protein-coding gene	gene with protein product		610537	"""dipeptidylpeptidase 7"""			10477574, 11139392	Standard	XM_005266075		Approved	DPPII	uc004clh.3	Q9UHL4	OTTHUMG00000020977	ENST00000371579.2:c.589G>A	9.37:g.140007845C>T	ENSP00000360635:p.Asp197Asn						p.D197N	NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)	5	593	-	all_cancers(76;0.0926)		197					A8K7U7|Q5VSF1|Q969X4	Missense_Mutation	SNP	ENST00000371579.2	37	c.589G>A	CCDS7030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.381|7.381	0.628846|0.628846	0.14257|0.14257	.|.	.|.	ENSG00000176978|ENSG00000176978	ENST00000371579|ENST00000443858	T|.	0.24151|.	1.87|.	5.11|5.11	1.08|1.08	0.20341|0.20341	.|.	0.392855|.	0.26719|.	N|.	0.022845|.	T|T	0.33235|0.33235	0.0856|0.0856	L|L	0.31157|0.31157	0.91|0.91	0.36506|0.36506	D|D	0.869276|0.869276	B|B	0.20052|0.34181	0.041|0.44	B|B	0.18263|0.16722	0.021|0.016	T|T	0.30001|0.30001	-0.9993|-0.9993	10|8	0.35671|0.87932	T|D	0.21|0	-4.6012|-4.6012	8.4931|8.4931	0.33112|0.33112	0.0:0.6705:0.0:0.3295|0.0:0.6705:0.0:0.3295	.|.	197|220	Q9UHL4|E7EQS4	DPP2_HUMAN|.	N|Q	197|220	ENSP00000360635:D197N|.	ENSP00000360635:D197N|ENSP00000413492:R220Q	D|R	-|-	1|2	0|0	DPP7|DPP7	139127666|139127666	0.347000|0.347000	0.24853|0.24853	0.005000|0.005000	0.12908|0.12908	0.040000|0.040000	0.13550|0.13550	1.007000|1.007000	0.29860|0.29860	0.189000|0.189000	0.20188|0.20188	0.561000|0.561000	0.74099|0.74099	GAC|CGA		0.667	DPP7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055279.1	NM_013379		21	83	0	0	0	1	0	21	83				
ETV1	2115	broad.mit.edu	37	7	13971306	13971306	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:13971306C>T	ENST00000430479.1	-	9	1290	c.623G>A	c.(622-624)cGt>cAt	p.R208H	ETV1_ENST00000403685.1_Missense_Mutation_p.R190H|ETV1_ENST00000343495.5_Missense_Mutation_p.R190H|ETV1_ENST00000242066.5_Missense_Mutation_p.R190H|ETV1_ENST00000420159.2_Missense_Mutation_p.R150H|ETV1_ENST00000405358.4_Missense_Mutation_p.R222H|ETV1_ENST00000403527.1_Missense_Mutation_p.R168H|ETV1_ENST00000399357.3_Missense_Mutation_p.R105H|ETV1_ENST00000405192.2_Missense_Mutation_p.R208H|ETV1_ENST00000405218.2_Missense_Mutation_p.R208H|ETV1_ENST00000476720.2_5'UTR	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	208					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTACATAGGACGTCCTTCCCT	0.502			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	ENST00000343495.5				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""		"""Ewing sarcoma, prostate"""	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(568-570)cGt>cAt		ets variant 1							137.0	134.0	135.0					7																	13971306		2044	4191	6235	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13971306C>T		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.623G>A	7.37:g.13971306C>T	ENSP00000405327:p.Arg208His					ETV1_ENST00000403685.1_Missense_Mutation_p.R190H|ETV1_ENST00000420159.2_Missense_Mutation_p.R150H|ETV1_ENST00000242066.5_Missense_Mutation_p.R190H|ETV1_ENST00000405218.2_Missense_Mutation_p.R208H|ETV1_ENST00000405358.4_Missense_Mutation_p.R222H|ETV1_ENST00000399357.3_Missense_Mutation_p.R105H|ETV1_ENST00000405192.2_Missense_Mutation_p.R208H|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Missense_Mutation_p.R208H|ETV1_ENST00000403527.1_Missense_Mutation_p.R168H	p.R190H			P50549	ETV1_HUMAN			8	1307	-			208					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.569G>A	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	C	36	5.879203	0.97055	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405192;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956;ENST00000443608	T;T;T;T;T;T;T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72;1.72	6.13	6.13	0.99165	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.66939	2.045	0.51767	D	0.999933	D;D;D;D;D;D;D;D	0.89917	0.998;1.0;0.995;0.997;1.0;1.0;0.999;0.993	D;D;P;P;D;D;D;D	0.91635	0.921;0.993;0.781;0.823;0.999;0.996;0.919;0.934	T	0.35992	-0.9766	10	0.45353	T	0.12	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	219;190;222;150;105;168;150;208	Q59GA7;P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618;P50549	.;.;.;.;.;.;.;ETV1_HUMAN	H	208;190;190;150;105;208;222;168;208;190;150;105	ENSP00000405327:R208H;ENSP00000242066:R190H;ENSP00000340853:R190H;ENSP00000411626:R150H;ENSP00000382293:R105H;ENSP00000385381:R208H;ENSP00000384085:R222H;ENSP00000384138:R168H;ENSP00000385551:R208H;ENSP00000385686:R190H;ENSP00000393078:R150H;ENSP00000394710:R105H	ENSP00000242066:R190H	R	-	2	0	ETV1	13937831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.291000	0.78721	2.932000	0.99384	0.644000	0.83932	CGT		0.502	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		7	35	0	0	0	1	0	7	35				
COL23A1	91522	broad.mit.edu	37	5	177733887	177733887	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:177733887C>G	ENST00000390654.3	-	3	752	c.395G>C	c.(394-396)aGa>aCa	p.R132T	COL23A1_ENST00000407622.1_Missense_Mutation_p.R105T	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	132	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		AGGGTCGCCTCTTCTCCCAGG	0.617																																						ENST00000390654.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(394-396)aGa>aCa		collagen, type XXIII, alpha 1							20.0	25.0	23.0					5																	177733887		1957	4122	6079	SO:0001583	missense	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177733887C>G	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.395G>C	5.37:g.177733887C>G	ENSP00000375069:p.Arg132Thr					COL23A1_ENST00000407622.1_Missense_Mutation_p.R105T	p.R132T	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	3	752	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	132			Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Missense_Mutation	SNP	ENST00000390654.3	37	c.395G>C	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931527	0.34096	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	D;D	0.94966	-3.57;-3.57	3.2	3.2	0.36748	.	0.086432	0.41712	D	0.000839	D	0.94351	0.8184	L	0.48260	1.515	0.34244	D	0.678023	D	0.62365	0.991	D	0.76071	0.987	D	0.92259	0.5815	10	0.10636	T	0.68	-3.8368	10.2279	0.43236	0.0:1.0:0.0:0.0	.	132	Q86Y22	CONA1_HUMAN	T	132;105	ENSP00000375069:R132T;ENSP00000385092:R105T	ENSP00000375069:R132T	R	-	2	0	COL23A1	177666493	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.154000	0.50693	2.119000	0.64992	0.478000	0.44815	AGA		0.617	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465		4	16	0	0	0	1	0	4	16				
RPL31P11	641311	broad.mit.edu	37	1	161654814	161654814	+	RNA	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:161654814G>A	ENST00000426558.1	-	0	228					NR_002595.1				ribosomal protein L31 pseudogene 11																		ATATCAATGCGCGCATCTGGA	0.507																																						ENST00000426558.1																			0																																																			641311							g.chr1:161654814G>A			1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654814G>A								NR_002595.1						0	228	-									RNA	SNP	ENST00000426558.1	37																																																																																						0.507	RPL31P11-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347090.2	NR_002595		10	22	0	0	0	1	0	10	22				
GRHPR	9380	broad.mit.edu	37	9	37428508	37428508	+	Silent	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:37428508C>G	ENST00000318158.6	+	5	517	c.432C>G	c.(430-432)ctC>ctG	p.L144L	GRHPR_ENST00000607784.1_Silent_p.L144L|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	144					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGAAGCCCCTCTGGCTGTGTG	0.687																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(430-432)ctC>ctG		glyoxylate reductase/hydroxypyruvate reductase							91.0	95.0	94.0					9																	37428508		2203	4300	6503	SO:0001819	synonymous_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37428508C>G	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.432C>G	9.37:g.37428508C>G						GRHPR_ENST00000318158.6_Silent_p.L144L|GRHPR_ENST00000493368.1_3'UTR	p.L144L			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	5	437	+			144					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Silent	SNP	ENST00000318158.6	37	c.432C>G	CCDS6609.1																																																																																				0.687	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		22	223	0	0	0	1	0	22	223				
GPR6	2830	broad.mit.edu	37	6	110300831	110300831	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:110300831C>T	ENST00000275169.3	+	1	534	c.516C>T	c.(514-516)aaC>aaT	p.N172N	GPR6_ENST00000414000.2_Silent_p.N187N	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	172					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCCTGTATAACGCGCTCACCT	0.657																																						ENST00000414000.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(559-561)aaC>aaT		G protein-coupled receptor 6							67.0	67.0	67.0					6																	110300831		2203	4300	6503	SO:0001819	synonymous_variant	2830					integral to plasma membrane		g.chr6:110300831C>T		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.516C>T	6.37:g.110300831C>T						GPR6_ENST00000275169.3_Silent_p.N172N	p.N187N			P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	3	800	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	172					B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Silent	SNP	ENST00000275169.3	37	c.561C>T	CCDS5079.1																																																																																				0.657	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			22	93	0	0	0	1	0	22	93				
PNPLA7	375775	broad.mit.edu	37	9	140356632	140356632	+	Splice_Site	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:140356632C>A	ENST00000277531.4	-	30	3755	c.3569G>T	c.(3568-3570)tGc>tTc	p.C1190F	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Splice_Site_p.C1215F|NSMF_ENST00000265663.7_5'Flank|NSMF_ENST00000371474.3_5'Flank|PNPLA7_ENST00000371457.1_Splice_Site_p.C796F|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000437259.1_5'Flank|NSMF_ENST00000371473.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1190					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGCACTCACGCAGATCTCGTT	0.662																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e31+1		patatin-like phospholipase domain containing 7							23.0	21.0	22.0					9																	140356632		2201	4298	6499	SO:0001630	splice_region_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140356632C>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3570+1G>T	9.37:g.140356632C>A						PNPLA7_ENST00000277531.4_Splice_Site_p.C1190_splice|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Splice_Site_p.C796_splice	p.C1215_splice	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	31	3980	-	all_cancers(76;0.126)		1190					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Splice_Site	SNP	ENST00000277531.4	37	c.3645_splice	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	C	4.913	0.169665	0.09339	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;-0.99	4.36	4.36	0.52297	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.112180	0.64402	D	0.000007	T	0.81403	0.4815	M	0.65975	2.015	0.49798	D	0.999829	B;D;B;B	0.71674	0.215;0.998;0.399;0.011	B;P;B;B	0.62560	0.065;0.904;0.206;0.045	T	0.78043	-0.2358	10	0.12430	T	0.62	-15.6832	16.2324	0.82356	0.0:1.0:0.0:0.0	.	598;1215;1190;437	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	F	796;598;1190;1215;1190;1181	ENSP00000360512:C796F;ENSP00000360501:C598F;ENSP00000277531:C1190F;ENSP00000384610:C1215F;ENSP00000400582:C1181F	ENSP00000277531:C1190F	C	-	2	0	PNPLA7	139476453	0.967000	0.33354	0.985000	0.45067	0.409000	0.31022	1.929000	0.40114	2.138000	0.66242	0.561000	0.74099	TGC		0.662	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	Missense_Mutation	5	43	1	0	5.9392e-07	1	6.61797e-07	5	43				
YTHDF3	253943	broad.mit.edu	37	8	64099415	64099415	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:64099415A>T	ENST00000539294.1	+	4	1159	c.843A>T	c.(841-843)aaA>aaT	p.K281N	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_Missense_Mutation_p.K92N|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	282							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GGGATGAAAAAGGGTCAGTGG	0.463																																						ENST00000539294.1																			0											c.(841-843)aaA>aaT		YTH domain family, member 3							61.0	66.0	64.0					8																	64099415		1952	4150	6102	SO:0001583	missense	253943							g.chr8:64099415A>T	BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.843A>T	8.37:g.64099415A>T	ENSP00000473496:p.Lys281Asn					YTHDF3_ENST00000542911.2_Missense_Mutation_p.K92N|YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000521674.1_3'UTR	p.K281N	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		4	1159	+	Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	282					B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	ENST00000539294.1	37	c.843A>T																																																																																					0.463	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152758		18	61	0	0	0	1	0	18	61				
HOXD10	3236	broad.mit.edu	37	2	176981808	176981808	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:176981808G>C	ENST00000249501.4	+	1	502	c.247G>C	c.(247-249)Gat>Cat	p.D83H	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	83					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGTTGGACAGATCCGAACAG	0.453																																						ENST00000249501.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17						c.(247-249)Gat>Cat		homeobox D10							103.0	99.0	100.0					2																	176981808		2203	4300	6503	SO:0001583	missense	3236					nucleus	sequence-specific DNA binding	g.chr2:176981808G>C		CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.247G>C	2.37:g.176981808G>C	ENSP00000249501:p.Asp83His					HOXD10_ENST00000490088.2_Intron	p.D83H	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	502	+			83					Q6NT10	Missense_Mutation	SNP	ENST00000249501.4	37	c.247G>C	CCDS2266.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711787	0.68730	.	.	ENSG00000128710	ENST00000249501	D	0.96011	-3.88	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.97711	0.9249	M	0.90309	3.105	0.80722	D	1	D	0.57899	0.981	P	0.55577	0.779	D	0.98264	1.0500	10	0.87932	D	0	.	19.4898	0.95046	0.0:0.0:1.0:0.0	.	83	P28358	HXD10_HUMAN	H	83	ENSP00000249501:D83H	ENSP00000249501:D83H	D	+	1	0	HOXD10	176690054	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.699000	0.92147	0.655000	0.94253	GAT		0.453	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255692.2			8	66	0	0	0	1	0	8	66				
TTN	7273	broad.mit.edu	37	2	179603911	179603911	+	Silent	SNP	G	G	A	rs370208081	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:179603911G>A	ENST00000591111.1	-	46	13322	c.13098C>T	c.(13096-13098)agC>agT	p.S4366S	TTN_ENST00000589042.1_Silent_p.S4683S|TTN_ENST00000460472.2_Silent_p.S4320S|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Silent_p.S4445S|TTN_ENST00000342175.6_Silent_p.S4512S|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12123	Ig-like 23.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S4320S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTTTTTCCGCTGTCATTCA	0.363													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20332	0.0		0.001	False		,,,				2504	0.0					ENST00000589042.1																			1	Substitution - coding silent(1)	p.S4320S(1)	stomach(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(14047-14049)agC>agT		titin		G	,,,	2,3798		0,2,1898	128.0	117.0	120.0		12960,,13335,13536	-4.3	0.0	2		120	0,8264		0,0,4132	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,6030	AA,AG,GG		0.0,0.0526,0.0166	,,,	4320/26927,,4445/27052,4512/27119	179603911	2,12062	1900	4132	6032	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179603911G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.13098C>T	2.37:g.179603911G>A						TTN_ENST00000342175.6_Silent_p.S4512S|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.S4445S|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.S4366S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.S4320S|TTN-AS1_ENST00000590773.1_RNA	p.S4683S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		48	14273	-			4366			Ig-like 27.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.14049C>T																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	10	0	0	0	1	0	3	10				
ZNF845	91664	broad.mit.edu	37	19	53848880	53848880	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:53848880C>T	ENST00000595091.1	+	4	356	c.137C>T	c.(136-138)tCc>tTc	p.S46F	ZNF845_ENST00000458035.1_Missense_Mutation_p.S46F			Q96IR2	ZN845_HUMAN	zinc finger protein 845	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AACCTGGTCTCCCTGGGTGAG	0.478																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(136-138)tCc>tTc		zinc finger protein 845							60.0	64.0	63.0					19																	53848880		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53848880C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.137C>T	19.37:g.53848880C>T	ENSP00000470005:p.Ser46Phe					ZNF845_ENST00000595091.1_Missense_Mutation_p.S46F	p.S46F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			3	254	+			46			KRAB.			Missense_Mutation	SNP	ENST00000595091.1	37	c.137C>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	2.018	-0.425417	0.04701	.	.	ENSG00000213799	ENST00000458035;ENST00000359916;ENST00000427984	T	0.03181	4.02	1.85	1.85	0.25348	Krueppel-associated box (4);	.	.	.	.	T	0.04272	0.0118	L	0.39633	1.23	0.19300	N	0.999978	B	0.21225	0.053	B	0.31191	0.125	T	0.44467	-0.9326	9	0.18276	T	0.48	.	9.4146	0.38514	0.0:1.0:0.0:0.0	.	46	Q96IR2	ZN845_HUMAN	F	46	ENSP00000388311:S46F	ENSP00000352990:S46F	S	+	2	0	ZNF845	58540692	0.001000	0.12720	0.408000	0.26446	0.156000	0.22039	0.227000	0.17795	1.048000	0.40298	0.134000	0.15878	TCC		0.478	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		59	121	0	0	0	1	0	59	121				
COQ5	84274	broad.mit.edu	37	12	120966920	120966920	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr12:120966920G>C	ENST00000288532.6	-	1	65	c.25C>G	c.(25-27)Cta>Gta	p.L9V	COQ5_ENST00000445328.2_Missense_Mutation_p.L9V	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	9					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGCTCCATAGAGCACAGCTC	0.662																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(25-27)Cta>Gta		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							18.0	21.0	20.0					12																	120966920		2201	4300	6501	SO:0001583	missense	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120966920G>C	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.25C>G	12.37:g.120966920G>C	ENSP00000288532:p.Leu9Val					COQ5_ENST00000445328.2_Missense_Mutation_p.L9V	p.L9V	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			1	65	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		9					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	c.25C>G	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451435	0.43531	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	T;T;T	0.80653	-0.18;-1.4;-0.66	5.9	-3.56	0.04626	.	0.646461	0.15558	N	0.256076	T	0.60702	0.2289	L	0.29908	0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.43212	-0.9405	10	0.35671	T	0.21	.	2.0394	0.03547	0.3218:0.3153:0.2556:0.1073	.	9;9	B4DP72;Q5HYK3	.;COQ5_HUMAN	V	9	ENSP00000288532:L9V;ENSP00000401798:L9V;ENSP00000449874:L9V	ENSP00000288532:L9V	L	-	1	2	COQ5	119451303	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.084000	0.11268	-0.627000	0.05589	-0.165000	0.13383	CTA		0.662	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		13	42	0	0	0	1	0	13	42				
CYP4F2	8529	broad.mit.edu	37	19	15989614	15989614	+	Silent	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:15989614G>T	ENST00000221700.6	-	13	1625	c.1530C>A	c.(1528-1530)ggC>ggA	p.G510G		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCCAAAGTCCGCCCTCTGCGC	0.617																																						ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1528-1530)ggC>ggA		cytochrome P450, family 4, subfamily F, polypeptide 2							18.0	19.0	19.0					19																	15989614		2201	4276	6477	SO:0001819	synonymous_variant	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15989614G>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1530C>A	19.37:g.15989614G>T						CYP4F2_ENST00000592328.1_Silent_p.G510G	p.G510G	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			13	1625	-			510						Silent	SNP	ENST00000221700.6	37	c.1530C>A	CCDS12336.1																																																																																				0.617	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		10	54	1	0	0.00010058	1	0.000108962	10	54				
C9orf91	203197	broad.mit.edu	37	9	117400893	117400893	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:117400893G>A	ENST00000288502.4	+	8	1173	c.736G>A	c.(736-738)Gag>Aag	p.E246K	C9orf91_ENST00000374049.4_Missense_Mutation_p.E247K			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	246						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TGCAACAGCGGAGGGGCCTGA	0.552																																						ENST00000374049.4																			0				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						c.(739-741)Gag>Aag		chromosome 9 open reading frame 91							144.0	128.0	133.0					9																	117400893		2203	4300	6503	SO:0001583	missense	203197					integral to membrane		g.chr9:117400893G>A	BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.736G>A	9.37:g.117400893G>A	ENSP00000288502:p.Glu246Lys					C9orf91_ENST00000288502.4_Missense_Mutation_p.E246K	p.E247K	NM_153045.3	NP_694590.2	Q5VZI3	CI091_HUMAN			8	1176	+			246					A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	ENST00000288502.4	37	c.739G>A	CCDS6808.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850369	0.51270	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	6.02	5.12	0.69794	.	0.241129	0.40144	N	0.001162	T	0.46151	0.1378	L	0.47716	1.5	0.33351	D	0.57107	B;B	0.30146	0.154;0.27	B;B	0.33392	0.054;0.163	T	0.55897	-0.8068	9	0.32370	T	0.25	-10.0158	11.5807	0.50889	0.0834:0.0:0.9166:0.0	.	225;246	Q5VZI3-2;Q5VZI3	.;CI091_HUMAN	K	247;246	.	ENSP00000288502:E246K	E	+	1	0	C9orf91	116440714	0.997000	0.39634	0.842000	0.33263	0.380000	0.30137	3.247000	0.51422	2.850000	0.98022	0.650000	0.86243	GAG		0.552	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053780.1	NM_153045		23	105	0	0	0	1	0	23	105				
ROS1	6098	broad.mit.edu	37	6	117724426	117724426	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:117724426C>T	ENST00000368508.3	-	6	651	c.453G>A	c.(451-453)ccG>ccA	p.P151P	ROS1_ENST00000368507.3_Silent_p.P160P|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	151	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACATAGGACGGTCTGGACA	0.473			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(451-453)ccG>ccA		c-ros oncogene 1 , receptor tyrosine kinase							69.0	64.0	66.0					6																	117724426		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117724426C>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.453G>A	6.37:g.117724426C>T						GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.P160P	p.P151P	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	6	651	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	151			Fibronectin type-III 1.		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.453G>A	CCDS5116.1																																																																																				0.473	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			7	30	0	0	0	1	0	7	30				
SLC12A1	6557	broad.mit.edu	37	15	48500249	48500249	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:48500249G>A	ENST00000558405.1	+	1	347	c.333G>A	c.(331-333)aaG>aaA	p.K111K	SLC12A1_ENST00000330289.6_Silent_p.K111K|SLC12A1_ENST00000561031.1_Silent_p.K111K|SLC12A1_ENST00000380993.3_Silent_p.K111K|SLC12A1_ENST00000396577.3_Silent_p.K111K			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	111					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCGTTCCCAAGATAGAGTACT	0.473																																						ENST00000396577.3																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(331-333)aaG>aaA		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						120.0	111.0	114.0					15																	48500249		2198	4297	6495	SO:0001819	synonymous_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48500249G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.333G>A	15.37:g.48500249G>A						SLC12A1_ENST00000558405.1_Silent_p.K111K|SLC12A1_ENST00000330289.6_Silent_p.K111K|SLC12A1_ENST00000380993.3_Silent_p.K111K|SLC12A1_ENST00000561031.1_Silent_p.K111K	p.K111K	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	2	548	+		all_lung(180;0.00219)	111					A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	c.333G>A	CCDS10129.2																																																																																				0.473	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			19	65	0	0	0	1	0	19	65				
DHRS3	9249	broad.mit.edu	37	1	12638942	12638942	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:12638942C>T	ENST00000376223.2	-	4	885	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	168					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ACGATGTGGCCATTCTGCAGC	0.612																																						ENST00000376223.2																			0				cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9						c.(502-504)Ggc>Agc		dehydrogenase/reductase (SDR family) member 3	Vitamin A(DB00162)						45.0	38.0	40.0					1																	12638942		2203	4300	6503	SO:0001583	missense	9249				retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	g.chr1:12638942C>T	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.502G>A	1.37:g.12638942C>T	ENSP00000365397:p.Gly168Ser						p.G168S	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	4	885	-	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	168					B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	37	c.502G>A	CCDS146.1	.	.	.	.	.	.	.	.	.	.	C	33	5.216228	0.95104	.	.	ENSG00000162496	ENST00000376223;ENST00000430996	D;T	0.93488	-3.23;0.0	5.63	4.71	0.59529	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.96987	0.9016	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97604	1.0125	10	0.72032	D	0.01	.	15.9638	0.79950	0.136:0.864:0.0:0.0	.	168	O75911	DHRS3_HUMAN	S	168;83	ENSP00000365397:G168S;ENSP00000387903:G83S	ENSP00000365397:G168S	G	-	1	0	DHRS3	12561529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	1.359000	0.45940	0.591000	0.81541	GGC		0.612	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753		5	30	0	0	0	1	0	5	30				
F5	2153	broad.mit.edu	37	1	169529837	169529837	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:169529837C>A	ENST00000367797.3	-	4	742	c.541G>T	c.(541-543)Gat>Tat	p.D181Y	F5_ENST00000546081.1_Missense_Mutation_p.D44Y|F5_ENST00000367796.3_Missense_Mutation_p.D181Y	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	181	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GAGTTGAAATCCTCGATCAGA	0.458																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(541-543)Gat>Tat		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						140.0	136.0	137.0					1																	169529837		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169529837C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.541G>T	1.37:g.169529837C>A	ENSP00000356771:p.Asp181Tyr					F5_ENST00000367797.3_Missense_Mutation_p.D181Y|F5_ENST00000546081.1_Missense_Mutation_p.D44Y	p.D181Y			P12259	FA5_HUMAN			4	742	-	all_hematologic(923;0.208)		181			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.541G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222218	0.58560	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99304	-5.72;-5.72;-5.72	5.39	5.39	0.77823	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	H	0.95402	3.665	0.46701	D	0.999163	D	0.89917	1.0	D	0.97110	1.0	D	0.97718	1.0195	9	0.87932	D	0	-23.5956	19.1602	0.93527	0.0:1.0:0.0:0.0	.	181	P12259	FA5_HUMAN	Y	181;181;44	ENSP00000356771:D181Y;ENSP00000356770:D181Y;ENSP00000439664:D44Y	ENSP00000356770:D181Y	D	-	1	0	F5	167796461	1.000000	0.71417	0.965000	0.40720	0.012000	0.07955	7.598000	0.82745	2.508000	0.84585	0.585000	0.79938	GAT		0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		14	103	1	0	1.49906e-05	1	1.64685e-05	14	103				
SYNGR2	9144	broad.mit.edu	37	17	76168045	76168045	+	3'UTR	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:76168045G>C	ENST00000225777.3	+	0	762				SYNGR2_ENST00000590201.1_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000588282.1_Missense_Mutation_p.Q264H|SYNGR2_ENST00000585591.1_Intron			O43760	SNG2_HUMAN	synaptogyrin 2						protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			AAGGGGGACAGAGAGGGCCCT	0.627																																						ENST00000588282.1																			0				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(790-792)caG>caC		synaptogyrin 2							35.0	33.0	33.0					17																	76168045		2203	4299	6502	SO:0001624	3_prime_UTR_variant	9144					integral to plasma membrane		g.chr17:76168045G>C	AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"""cellugyrin"""	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.*28G>C	17.37:g.76168045G>C						SYNGR2_ENST00000590201.1_3'UTR|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000585591.1_Intron|SYNGR2_ENST00000225777.3_3'UTR|SYNGR2_ENST00000592456.1_3'UTR	p.Q264H	NM_004710.3	NP_004701.1	O43760	SNG2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)		3	798	+			0					O43762|Q3KQZ2|Q658S7	Missense_Mutation	SNP	ENST00000225777.3	37	c.792G>C	CCDS11753.1																																																																																				0.627	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437009.2			28	75	0	0	0	1	0	28	75				
HTR1A	3350	broad.mit.edu	37	5	63256789	63256789	+	Missense_Mutation	SNP	C	C	G	rs147211774		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:63256789C>G	ENST00000323865.3	-	1	991	c.758G>C	c.(757-759)aGt>aCt	p.S253T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	253					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCCATTCACACTCTTCTTGGG	0.647																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(757-759)aGt>aCt		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						58.0	58.0	58.0					5																	63256789		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256789C>G	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.758G>C	5.37:g.63256789C>G	ENSP00000316244:p.Ser253Thr					RP11-158J3.2_ENST00000502882.1_RNA	p.S253T	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	991	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	253					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.758G>C	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	2.172	-0.389666	0.04932	.	.	ENSG00000178394	ENST00000323865	T	0.62232	0.04	5.17	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.282099	0.38605	N	0.001632	T	0.47801	0.1465	L	0.39397	1.21	0.38621	D	0.951149	B	0.06786	0.001	B	0.06405	0.002	T	0.41070	-0.9529	10	0.14252	T	0.57	.	9.116	0.36758	0.0:0.8362:0.0:0.1638	.	253	P08908	5HT1A_HUMAN	T	253	ENSP00000316244:S253T	ENSP00000316244:S253T	S	-	2	0	HTR1A	63292545	0.340000	0.24792	0.937000	0.37676	0.120000	0.20174	0.767000	0.26575	1.411000	0.46957	0.655000	0.94253	AGT		0.647	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		17	122	0	0	0	1	0	17	122				
STK10	6793	broad.mit.edu	37	5	171491742	171491742	+	Silent	SNP	C	C	T	rs189563470		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:171491742C>T	ENST00000176763.5	-	13	2407	c.2064G>A	c.(2062-2064)acG>acA	p.T688T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	688					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTTTTTCTGCGTGTGCTCCT	0.602																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2062-2064)acG>acA		serine/threonine kinase 10							227.0	192.0	204.0					5																	171491742		2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171491742C>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2064G>A	5.37:g.171491742C>T							p.T688T	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2407	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	688					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.2064G>A	CCDS34290.1																																																																																				0.602	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		6	76	0	0	0	1	0	6	76				
MTHFD1	4522	broad.mit.edu	37	14	64902332	64902332	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr14:64902332G>C	ENST00000545908.1	+	16	1937	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.E514Q			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	514	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GACAGATGAAGAGATAAACAG	0.383																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(1540-1542)Gag>Cag		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						139.0	130.0	133.0					14																	64902332		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64902332G>C	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.1708G>C	14.37:g.64902332G>C	ENSP00000438588:p.Glu570Gln					MTHFD1_ENST00000216605.7_Missense_Mutation_p.E570Q|MTHFD1_ENST00000555252.1_Missense_Mutation_p.E494Q|MTHFD1_ENST00000545908.1_Missense_Mutation_p.E570Q|CTD-2555O16.2_ENST00000556640.1_RNA	p.E514Q	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	16	1927	+			514			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.1540G>C		.	.	.	.	.	.	.	.	.	.	G	34	5.297984	0.95574	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.26810	2.52;2.55;2.54;1.71	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.86740	2.835	0.80722	D	1	D;D;P	0.55385	0.969;0.971;0.918	P;P;P	0.56278	0.721;0.795;0.668	T	0.60984	-0.7154	10	0.72032	D	0.01	-23.1642	19.7987	0.96497	0.0:0.0:1.0:0.0	.	570;514;514	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	Q	570;514;570;494	ENSP00000438588:E570Q;ENSP00000450560:E514Q;ENSP00000216605:E570Q;ENSP00000451309:E494Q	ENSP00000216605:E514Q	E	+	1	0	MTHFD1	63972085	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.767000	0.95098	0.655000	0.94253	GAG		0.383	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			11	50	0	0	0	1	0	11	50				
CCDC114	93233	broad.mit.edu	37	19	48806016	48806016	+	Missense_Mutation	SNP	G	G	A	rs201978870		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:48806016G>A	ENST00000315396.7	-	10	1746	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	355					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTCAGCCTCCGAGTGCACCTT	0.647													g|||	1	0.000199681	0.0	0.0	5008	,	,		19749	0.0		0.001	False		,,,				2504	0.0					ENST00000315396.7																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24						c.(1063-1065)tCg>tTg		coiled-coil domain containing 114							84.0	78.0	80.0					19																	48806016		2203	4300	6503	SO:0001583	missense	93233							g.chr19:48806016G>A	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1064C>T	19.37:g.48806016G>A	ENSP00000318429:p.Ser355Leu						p.S355L	NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	10	1746	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	355					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1064C>T	CCDS12714.2	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	6.024	0.372771	0.11409	.	.	ENSG00000105479	ENST00000315396	T	0.44083	0.93	3.88	-2.73	0.05950	.	1.539810	0.04572	N	0.393544	T	0.25494	0.0620	L	0.27053	0.805	0.09310	N	1	B;B;B	0.12013	0.005;0.001;0.005	B;B;B	0.04013	0.001;0.001;0.001	T	0.15809	-1.0424	10	0.33141	T	0.24	0.2356	2.8524	0.05562	0.3085:0.0:0.362:0.3295	.	148;355;355	Q96M63-4;Q96M63;Q96M63-5	.;CC114_HUMAN;.	L	355	ENSP00000318429:S355L	ENSP00000318429:S355L	S	-	2	0	CCDC114	53497828	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.465000	0.06680	-0.158000	0.11040	-1.586000	0.00850	TCG		0.647	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		37	103	0	0	0	1	0	37	103				
SLC4A4	8671	broad.mit.edu	37	4	72363343	72363343	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:72363343C>T	ENST00000264485.5	+	16	2217	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	SLC4A4_ENST00000425175.1_Silent_p.F700F|SLC4A4_ENST00000340595.3_Silent_p.F656F|SLC4A4_ENST00000351898.6_Silent_p.F700F	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	700					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTATCCTCTTCTTGGGAACCT	0.378																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1966-1968)ttC>ttT		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							118.0	123.0	121.0					4																	72363343		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72363343C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2100C>T	4.37:g.72363343C>T						SLC4A4_ENST00000425175.1_Silent_p.F700F|SLC4A4_ENST00000351898.6_Silent_p.F700F|SLC4A4_ENST00000264485.5_Silent_p.F700F	p.F656F	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		13	2164	+			700					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.1968C>T	CCDS43236.1																																																																																				0.378	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		11	46	0	0	0	1	0	11	46				
KIF15	56992	broad.mit.edu	37	3	44846575	44846575	+	Missense_Mutation	SNP	G	G	A	rs200117192		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:44846575G>A	ENST00000326047.4	+	15	1893	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	KIF15_ENST00000425755.1_Missense_Mutation_p.E217K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	582					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGCAAACACTGAGAAGTTAAA	0.323																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(1744-1746)Gag>Aag		kinesin family member 15		G	LYS/GLU	0,4406		0,0,2203	76.0	76.0	76.0		1744	4.7	0.9	3		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	KIF15	NM_020242.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	582/1389	44846575	1,13005	2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44846575G>A	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1744G>A	3.37:g.44846575G>A	ENSP00000324020:p.Glu582Lys					KIF15_ENST00000425755.1_Missense_Mutation_p.E217K	p.E582K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	15	1893	+			582					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.1744G>A	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390945	0.62066	0.0	1.16E-4	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.79845	-0.4;-1.31;1.67	5.56	4.68	0.58851	.	0.000000	0.52532	D	0.000080	T	0.77219	0.4098	M	0.67953	2.075	0.48830	D	0.99971	B;B	0.32829	0.386;0.018	B;B	0.28553	0.091;0.025	T	0.75326	-0.3357	10	0.32370	T	0.25	.	14.5804	0.68284	0.0706:0.0:0.9294:0.0	.	217;582	C9JKA9;Q9NS87	.;KIF15_HUMAN	K	582;354;581;217	ENSP00000324020:E582K;ENSP00000425499:E354K;ENSP00000389982:E217K	ENSP00000324020:E582K	E	+	1	0	KIF15	44821579	1.000000	0.71417	0.892000	0.35008	0.993000	0.82548	7.360000	0.79487	1.483000	0.48342	0.585000	0.79938	GAG		0.323	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			10	32	0	0	0	1	0	10	32				
HECTD4	283450	broad.mit.edu	37	12	112605214	112605214	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr12:112605214G>A	ENST00000430131.2	-	71	12320	c.11175C>T	c.(11173-11175)ttC>ttT	p.F3725F	HECTD4_ENST00000377560.5_Silent_p.F3975F|HECTD4_ENST00000550722.1_Silent_p.F4001F			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3725	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCGTCTTCCAGAAGGAGGGCA	0.607																																						ENST00000550722.1																			0											c.(12001-12003)ttC>ttT		HECT domain containing E3 ubiquitin protein ligase 4							68.0	75.0	72.0					12																	112605214		2016	4171	6187	SO:0001819	synonymous_variant	283450							g.chr12:112605214G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11175C>T	12.37:g.112605214G>A						HECTD4_ENST00000377560.5_Silent_p.F3975F|HECTD4_ENST00000430131.2_Silent_p.F3725F	p.F4001F	NM_001109662.3	NP_001103132.3					72	12398	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.12003C>T																																																																																					0.607	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		22	88	0	0	0	1	0	22	88				
OR4C15	81309	broad.mit.edu	37	11	55322833	55322833	+	Missense_Mutation	SNP	A	A	T	rs112163324		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:55322833A>T	ENST00000314644.2	+	1	1051	c.1051A>T	c.(1051-1053)Atg>Ttg	p.M351L		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AAAACAGGCCATGAGGAGAAT	0.333										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(1051-1053)Atg>Ttg		olfactory receptor, family 4, subfamily C, member 15							71.0	70.0	71.0					11																	55322833		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322833A>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.1051A>T	11.37:g.55322833A>T	ENSP00000324958:p.Met351Leu	HNSCC(20;0.049)					p.M351L	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	1051	+			297					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.1051A>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	A	7.109	0.575733	0.13623	.	.	ENSG00000181939	ENST00000314644	T	0.28895	1.59	5.02	2.58	0.30949	.	.	.	.	.	T	0.15262	0.0368	N	0.05487	-0.04	0.21064	N	0.999791	B	0.15141	0.012	B	0.17433	0.018	T	0.17992	-1.0351	9	0.56958	D	0.05	.	5.6605	0.17667	0.581:0.3301:0.0889:0.0	.	297	Q8NGM1	OR4CF_HUMAN	L	351	ENSP00000324958:M351L	ENSP00000324958:M351L	M	+	1	0	OR4C15	55079409	0.000000	0.05858	0.704000	0.30370	0.034000	0.12701	-0.197000	0.09518	0.912000	0.36772	0.317000	0.21355	ATG		0.333	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		14	42	0	0	0	1	0	14	42				
SLC22A6	9356	broad.mit.edu	37	11	62751882	62751882	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:62751882G>C	ENST00000377871.3	-	1	547	c.281C>G	c.(280-282)aCa>aGa	p.T94R	SLC22A6_ENST00000421062.2_Missense_Mutation_p.T94R|SLC22A6_ENST00000458333.2_Missense_Mutation_p.T94R|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Missense_Mutation_p.T94R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	94					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	ATTGGCTTCTGTGCCATTGAG	0.642																																						ENST00000377871.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(280-282)aCa>aGa		solute carrier family 22 (organic anion transporter), member 6							86.0	84.0	85.0					11																	62751882		2201	4298	6499	SO:0001583	missense	9356				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	g.chr11:62751882G>C	AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.281C>G	11.37:g.62751882G>C	ENSP00000367102:p.Thr94Arg					SLC22A6_ENST00000421062.2_Missense_Mutation_p.T94R|SLC22A6_ENST00000360421.4_Missense_Mutation_p.T94R|SLC22A6_ENST00000458333.2_Missense_Mutation_p.T94R	p.T94R	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN			1	547	-			94					A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	c.281C>G	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567718	0.65651	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.71	4.71	0.59529	Major facilitator superfamily domain (1);	0.306757	0.29624	N	0.011622	T	0.69133	0.3077	M	0.89785	3.06	0.42167	D	0.991622	D;D;D;D	0.65815	0.995;0.99;0.983;0.99	D;D;D;D	0.68621	0.945;0.927;0.933;0.959	T	0.75297	-0.3367	10	0.51188	T	0.08	.	15.2125	0.73238	0.0:0.0:1.0:0.0	.	94;94;94;94	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	R	94;73;94;94;94	ENSP00000353597:T94R;ENSP00000367102:T94R;ENSP00000396401:T94R;ENSP00000404441:T94R	ENSP00000353597:T94R	T	-	2	0	SLC22A6	62508458	1.000000	0.71417	0.750000	0.31169	0.911000	0.54048	3.081000	0.50120	2.464000	0.83262	0.557000	0.71058	ACA		0.642	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1	NM_004790		28	131	0	0	0	1	0	28	131				
WDR35	57539	broad.mit.edu	37	2	20145695	20145695	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:20145695G>A	ENST00000345530.3	-	17	1845	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	WDR35_ENST00000281405.4_Missense_Mutation_p.T566M|WDR35_ENST00000416055.2_Missense_Mutation_p.T142M	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	577					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTACTGTCCGTTACTCGAGC	0.398																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1729-1731)aCg>aTg		WD repeat domain 35							163.0	151.0	155.0					2																	20145695		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20145695G>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1730C>T	2.37:g.20145695G>A	ENSP00000314444:p.Thr577Met					WDR35_ENST00000281405.4_Missense_Mutation_p.T566M|WDR35_ENST00000416055.2_Missense_Mutation_p.T142M	p.T577M	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			17	1845	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		577					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.1730C>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243477	0.39697	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.7	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.282341	0.40144	N	0.001163	D	0.87637	0.6227	L	0.60455	1.87	0.23975	N	0.996297	B;B;B;P	0.39601	0.159;0.299;0.009;0.68	B;B;B;B	0.27500	0.071;0.071;0.011;0.08	T	0.82855	-0.0251	10	0.44086	T	0.13	-12.0631	13.1877	0.59691	0.0761:0.0:0.9239:0.0	.	577;566;577;142	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	M	577;566;142;112	ENSP00000314444:T577M;ENSP00000281405:T566M;ENSP00000399159:T142M;ENSP00000404409:T112M	ENSP00000281405:T566M	T	-	2	0	WDR35	20009176	0.000000	0.05858	0.995000	0.50966	0.975000	0.68041	0.502000	0.22594	2.690000	0.91761	0.650000	0.86243	ACG		0.398	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		40	62	0	0	0	1	0	40	62				
NKX2-2	4821	broad.mit.edu	37	20	21492834	21492834	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr20:21492834C>T	ENST00000377142.4	-	2	905	c.549G>A	c.(547-549)atG>atA	p.M183I	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	183					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGGCGCGCTTCATCTTGTAGC	0.677																																						ENST00000377142.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(547-549)atG>atA		NK2 homeobox 2							41.0	43.0	42.0					20																	21492834		2202	4300	6502	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21492834C>T	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.549G>A	20.37:g.21492834C>T	ENSP00000366347:p.Met183Ile					NKX2-2-AS1_ENST00000549659.1_RNA	p.M183I	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN			2	905	-			183						Missense_Mutation	SNP	ENST00000377142.4	37	c.549G>A	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076418	0.94000	.	.	ENSG00000125820	ENST00000377142	D	0.96104	-3.91	5.35	5.35	0.76521	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.94902	0.8352	L	0.31804	0.96	0.80722	D	1	P	0.47253	0.892	P	0.55222	0.771	D	0.93378	0.6741	10	0.23302	T;T	0.38;0.38	.	19.0448	0.93015	0.0:1.0:0.0:0.0	.	183	O95096	NKX22_HUMAN	I	183	ENSP00000366347:M183I	ENSP00000366347:M183I;ENSP00000366347:M183I	M	-	3	0	NKX2-2	21440834	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.077000	0.71275	2.489000	0.83994	0.462000	0.41574	ATG		0.677	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			16	68	0	0	0	1	0	16	68				
ABCB1	5243	broad.mit.edu	37	7	87150144	87150144	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:87150144G>C	ENST00000265724.3	-	23	3151	c.2734C>G	c.(2734-2736)Cag>Gag	p.Q912E	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.Q848E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	912	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTCTGCTCCTGAGTCAAAGAA	0.423																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2734-2736)Cag>Gag		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						129.0	118.0	122.0					7																	87150144		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87150144G>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2734C>G	7.37:g.87150144G>C	ENSP00000265724:p.Gln912Glu					ABCB1_ENST00000543898.1_Missense_Mutation_p.Q848E|ABCB1_ENST00000488737.2_5'UTR	p.Q912E	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			23	3151	-	Esophageal squamous(14;0.00164)		912			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2734C>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738984	0.49045	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89270	-2.49;-2.49	5.28	4.4	0.53042	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.225178	0.45126	D	0.000386	D	0.85234	0.5650	L	0.42245	1.32	0.29960	N	0.81951	B;B	0.22211	0.022;0.066	B;B	0.32928	0.015;0.155	T	0.81278	-0.1005	10	0.56958	D	0.05	-5.5481	8.9395	0.35720	0.0747:0.0:0.7781:0.1471	.	848;912	B5AK60;P08183	.;MDR1_HUMAN	E	693;912;848	ENSP00000265724:Q912E;ENSP00000444095:Q848E	ENSP00000265724:Q912E	Q	-	1	0	ABCB1	86988080	0.039000	0.19947	1.000000	0.80357	0.978000	0.69477	2.276000	0.43408	1.228000	0.43614	0.655000	0.94253	CAG		0.423	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		9	48	0	0	0	1	0	9	48				
CELSR2	1952	broad.mit.edu	37	1	109814076	109814076	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:109814076C>T	ENST00000271332.3	+	27	7806	c.7745C>T	c.(7744-7746)tCt>tTt	p.S2582F	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2582					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCACTGCTCTCTGTCAACAGC	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(7744-7746)tCt>tTt		cadherin, EGF LAG seven-pass G-type receptor 2							128.0	100.0	109.0					1																	109814076		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109814076C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.7745C>T	1.37:g.109814076C>T	ENSP00000271332:p.Ser2582Phe					CELSR2_ENST00000498157.1_3'UTR	p.S2582F	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	27	7806	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2582					Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.7745C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534131	0.85812	.	.	ENSG00000143126	ENST00000271332	T	0.44083	0.93	4.59	4.59	0.56863	GPCR, family 2-like (1);	.	.	.	.	T	0.41373	0.1156	L	0.27053	0.805	0.52501	D	0.999953	D	0.71674	0.998	D	0.74023	0.982	T	0.29088	-1.0023	9	0.38643	T	0.18	.	16.3331	0.83050	0.0:1.0:0.0:0.0	.	2582	Q9HCU4	CELR2_HUMAN	F	2582	ENSP00000271332:S2582F	ENSP00000271332:S2582F	S	+	2	0	CELSR2	109615599	0.616000	0.27035	0.952000	0.39060	0.942000	0.58702	5.863000	0.69568	2.377000	0.81083	0.561000	0.74099	TCT		0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		31	136	0	0	0	1	0	31	136				
GON4L	54856	broad.mit.edu	37	1	155717369	155717369	+	IGR	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:155717369G>A	ENST00000368331.1	-	0	7640				MSTO1_ENST00000538143.1_3'UTR|MSTO1_ENST00000452804.2_Silent_p.L192L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGGTCGGCTGGAGGCTTTTG	0.537																																						ENST00000452804.2																			0				breast(2)|endometrium(1)|lung(3)|skin(1)	7						c.(574-576)ctG>ctA		misato 1, mitochondrial distribution and morphology regulator																																				SO:0001628	intergenic_variant	55154				mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		g.chr1:155717369G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106		1.37:g.155717369G>A						MSTO1_ENST00000538143.1_3'UTR	p.L192L			Q9BUK6	MSTO1_HUMAN			7	637	+	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		192					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.576G>A																																																																																					0.537	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		5	39	0	0	0	1	0	5	39				
SP140	11262	broad.mit.edu	37	2	231149061	231149061	+	Splice_Site	SNP	G	G	C	rs202247799		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:231149061G>C	ENST00000392045.3	+	16	1613	c.1499G>C	c.(1498-1500)aGa>aCa	p.R500T	SP140_ENST00000350136.5_Splice_Site_p.R369T|SP140_ENST00000417495.3_Splice_Site_p.R386T|SP140_ENST00000343805.6_Splice_Site_p.R440T|SP140_ENST00000420434.3_Splice_Site_p.R473T|SP140_ENST00000486687.2_Splice_Site_p.R424T	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	500					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGTTTGAAGGAAAAAAGAGG	0.348																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.e16-1		SP140 nuclear body protein							76.0	80.0	78.0					2																	231149061		1831	4083	5914	SO:0001630	splice_region_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231149061G>C	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1499-1G>C	2.37:g.231149061G>C						SP140_ENST00000343805.6_Splice_Site_p.R440_splice|SP140_ENST00000486687.2_Splice_Site_p.R424_splice|SP140_ENST00000350136.5_Splice_Site_p.R369_splice|SP140_ENST00000417495.3_Splice_Site_p.R386_splice|SP140_ENST00000420434.3_Splice_Site_p.R473_splice	p.R500_splice	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	16	1613	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	500					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Splice_Site	SNP	ENST00000392045.3	37	c.1498_splice	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573622	0.28092	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.69685	-0.22;0.11;-0.26;-0.42;-0.12	3.03	-1.19	0.09585	.	.	.	.	.	T	0.66066	0.2752	L	0.58810	1.83	0.09310	N	1	P;P;P;D	0.62365	0.915;0.634;0.75;0.991	B;B;B;P	0.55011	0.392;0.081;0.222;0.766	T	0.55630	-0.8111	8	.	.	.	.	2.6879	0.05112	0.4129:0.0:0.376:0.2112	.	473;386;440;500	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	T	424;369;500;386;440;473	ENSP00000440107:R424T;ENSP00000345846:R369T;ENSP00000375899:R500T;ENSP00000342096:R440T;ENSP00000398210:R473T	.	R	+	2	0	SP140	230857305	0.958000	0.32768	0.002000	0.10522	0.434000	0.31775	0.565000	0.23578	-0.264000	0.09365	-0.391000	0.06502	AGA		0.348	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237	Missense_Mutation	7	20	0	0	0	1	0	7	20				
CSMD3	114788	broad.mit.edu	37	8	113649148	113649148	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:113649148T>A	ENST00000297405.5	-	22	3857	c.3613A>T	c.(3613-3615)Acc>Tcc	p.T1205S	CSMD3_ENST00000455883.2_Missense_Mutation_p.T1101S|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1165S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1205S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1205	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGAGAAGGTCAGAGTGTCA	0.473										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(3613-3615)Acc>Tcc		CUB and Sushi multiple domains 3							226.0	179.0	195.0					8																	113649148		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113649148T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3613A>T	8.37:g.113649148T>A	ENSP00000297405:p.Thr1205Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.T1165S|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1101S|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1205S	p.T1205S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			22	3857	-			1205			Sushi 6.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3613A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.014729	0.35511	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.56	4.4	0.53042	Complement control module (2);Sushi/SCR/CCP (3);	0.085868	0.48767	D	0.000165	T	0.53562	0.1804	L	0.28649	0.875	0.25673	N	0.985878	B;B;P	0.40931	0.028;0.009;0.733	B;B;P	0.46718	0.03;0.016;0.525	T	0.42666	-0.9438	10	0.11485	T	0.65	.	11.6073	0.51039	0.0:0.0698:0.0:0.9302	.	1101;1205;1165	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1165;1205;545;1101;1205	ENSP00000345799:T1165S;ENSP00000297405:T1205S;ENSP00000341558:T545S;ENSP00000412263:T1101S;ENSP00000343124:T1205S	ENSP00000297405:T1205S	T	-	1	0	CSMD3	113718324	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	1.798000	0.38814	0.933000	0.37291	0.528000	0.53228	ACC		0.473	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	92	0	0	0	1	0	13	92				
RIN3	79890	broad.mit.edu	37	14	93118418	93118418	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr14:93118418G>A	ENST00000216487.7	+	6	1183	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	342	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GATGACCTGCGAGAGACTCCC	0.697																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1024-1026)Gag>Aag		Ras and Rab interactor 3							22.0	25.0	24.0					14																	93118418		2056	4087	6143	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118418G>A	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1024G>A	14.37:g.93118418G>A	ENSP00000216487:p.Glu342Lys					RIN3_ENST00000418924.2_3'UTR	p.E342K	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1183	+		all_cancers(154;0.0701)	342			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1024G>A	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647579	0.47258	.	.	ENSG00000100599	ENST00000216487	T	0.07021	3.23	3.89	2.94	0.34122	.	1.205970	0.06058	N	0.657888	T	0.22360	0.0539	M	0.62723	1.935	0.54753	D	0.999983	D;P;P;D	0.69078	0.997;0.804;0.897;0.995	P;B;B;P	0.58454	0.839;0.086;0.212;0.695	T	0.03576	-1.1023	10	0.44086	T	0.13	-11.5552	10.4249	0.44371	0.0:0.1978:0.8022:0.0	.	342;388;267;342	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	K	342	ENSP00000216487:E342K	ENSP00000216487:E342K	E	+	1	0	RIN3	92188171	0.892000	0.30473	0.898000	0.35279	0.079000	0.17450	1.239000	0.32719	1.730000	0.51580	0.313000	0.20887	GAG		0.697	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			9	67	0	0	0	1	0	9	67				
MUC16	94025	broad.mit.edu	37	19	9088981	9088981	+	Missense_Mutation	SNP	G	G	A	rs202224746		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:9088981G>A	ENST00000397910.4	-	1	3037	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	945	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATTGTTGCCGTCCCAGTGAG	0.478													g|||	1	0.000199681	0.0	0.0014	5008	,	,		22768	0.0		0.0	False		,,,				2504	0.0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2833-2835)aCg>aTg		mucin 16, cell surface associated		G	MET/THR	2,3974		0,2,1986	144.0	141.0	142.0		2834	-0.9	0.0	19		142	3,8333		0,3,4165	yes	missense	MUC16	NM_024690.2	81	0,5,6151	AA,AG,GG		0.036,0.0503,0.0406	benign	945/14508	9088981	5,12307	1988	4168	6156	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088981G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2834C>T	19.37:g.9088981G>A	ENSP00000381008:p.Thr945Met						p.T945M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	3037	-			945			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2834C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.799	-0.756160	0.03019	5.03E-4	3.6E-4	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.55	-0.917	0.10485	.	.	.	.	.	T	0.01320	0.0043	N	0.08118	0	.	.	.	B	0.32128	0.357	B	0.17098	0.017	T	0.46105	-0.9215	8	0.87932	D	0	.	2.9714	0.05924	0.1967:0.291:0.5123:0.0	.	945	B5ME49	.	M	945	ENSP00000381008:T945M	ENSP00000381008:T945M	T	-	2	0	MUC16	8949981	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.747000	0.04823	-0.150000	0.11195	-0.974000	0.02594	ACG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		23	75	0	0	0	1	0	23	75				
LARP7	51574	broad.mit.edu	37	4	113568609	113568609	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:113568609G>A	ENST00000344442.5	+	7	1179	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	MIR302B_ENST00000510655.1_RNA|MIR302C_ENST00000362232.1_RNA|MIR302B_ENST00000505215.1_RNA|MIR302A_ENST00000385192.1_RNA|MIR302B_ENST00000362188.1_RNA|MIR302D_ENST00000362275.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.E301K|MIR367_ENST00000362299.1_RNA|LARP7_ENST00000509061.1_Missense_Mutation_p.E308K|MIR302B_ENST00000509938.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	301	Lys-rich.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AAGCAGCTCTGAAGATGCAGA	0.413																																						ENST00000509061.1																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17						c.(922-924)Gaa>Aaa		La ribonucleoprotein domain family, member 7							94.0	95.0	95.0					4																	113568609		1857	4098	5955	SO:0001583	missense	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113568609G>A	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.901G>A	4.37:g.113568609G>A	ENSP00000344950:p.Glu301Lys					MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000344442.5_Missense_Mutation_p.E301K|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.E301K	p.E308K	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	9	1225	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	301			Lys-rich.		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	c.922G>A	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	G	36	5.971281	0.97156	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000324052	T;T;T	0.47177	0.85;0.85;0.85	5.86	5.86	0.93980	.	0.494154	0.23575	N	0.046717	T	0.52533	0.1740	M	0.72118	2.19	0.38701	D	0.952989	B	0.20887	0.049	B	0.21151	0.033	T	0.50767	-0.8789	10	0.40728	T	0.16	-13.799	19.7593	0.96308	0.0:0.0:1.0:0.0	.	301	Q4G0J3	LARP7_HUMAN	K	301;308;301	ENSP00000344950:E301K;ENSP00000422626:E308K;ENSP00000314311:E301K	ENSP00000314311:E301K	E	+	1	0	LARP7	113788058	0.415000	0.25416	0.011000	0.14972	0.914000	0.54420	3.572000	0.53849	2.775000	0.95449	0.563000	0.77884	GAA		0.413	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		14	61	0	0	0	1	0	14	61				
ACSBG2	81616	broad.mit.edu	37	19	6187370	6187370	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:6187370C>G	ENST00000586696.1	+	12	1893	c.1617C>G	c.(1615-1617)atC>atG	p.I539M	ACSBG2_ENST00000588304.1_Missense_Mutation_p.I489M|RFX2_ENST00000587700.1_5'Flank|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I539M|ACSBG2_ENST00000588485.1_Missense_Mutation_p.I352M|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I539M			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	539					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGATCCCCATCATCAGTAACG	0.473																																						ENST00000588304.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1465-1467)atC>atG		acyl-CoA synthetase bubblegum family member 2							137.0	123.0	128.0					19																	6187370		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6187370C>G		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1617C>G	19.37:g.6187370C>G	ENSP00000465589:p.Ile539Met					ACSBG2_ENST00000588485.1_Missense_Mutation_p.I352M|ACSBG2_ENST00000591403.1_Missense_Mutation_p.I539M|ACSBG2_ENST00000586696.1_Missense_Mutation_p.I539M|ACSBG2_ENST00000252669.5_Missense_Mutation_p.I539M|ACSBG2_ENST00000591741.1_3'UTR	p.I489M			Q5FVE4	ACBG2_HUMAN			12	1913	+			539					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.1467C>G	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331146	0.24167	.	.	ENSG00000130377	ENST00000252669	T	0.10005	2.92	5.35	-1.64	0.08318	AMP-dependent synthetase/ligase (1);	0.000000	0.50627	D	0.000107	T	0.19087	0.0458	M	0.63428	1.95	0.28279	N	0.92405	P;D	0.61697	0.662;0.99	P;D	0.66084	0.643;0.941	T	0.03773	-1.1005	10	0.52906	T	0.07	-41.1399	4.2781	0.10818	0.3748:0.3583:0.0:0.2668	.	539;539	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	M	539	ENSP00000252669:I539M	ENSP00000252669:I539M	I	+	3	3	ACSBG2	6138370	0.001000	0.12720	0.297000	0.24988	0.103000	0.19146	-0.126000	0.10563	0.214000	0.20742	-0.136000	0.14681	ATC		0.473	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		24	82	0	0	0	1	0	24	82				
KCTD8	386617	broad.mit.edu	37	4	44450114	44450114	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:44450114C>A	ENST00000360029.3	-	1	710	c.427G>T	c.(427-429)Gtc>Ttc	p.V143F	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	143					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGCAGCTTGACCAAGTCGGTG	0.627										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(427-429)Gtc>Ttc		potassium channel tetramerization domain containing 8							26.0	22.0	23.0					4																	44450114		2191	4277	6468	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450114C>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.427G>T	4.37:g.44450114C>A	ENSP00000353129:p.Val143Phe	HNSCC(17;0.042)				AC131951.1_ENST00000584757.1_RNA	p.V143F	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	710	-			143					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.427G>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305083	0.81247	.	.	ENSG00000183783	ENST00000360029	T	0.46063	0.88	4.23	4.23	0.50019	BTB/POZ-like (1);BTB/POZ fold (2);	0.087390	0.47455	D	0.000235	T	0.68339	0.2990	M	0.90425	3.115	0.40151	D	0.976948	D	0.57571	0.98	D	0.63381	0.914	T	0.78114	-0.2330	10	0.72032	D	0.01	.	15.7728	0.78184	0.0:1.0:0.0:0.0	.	143	Q6ZWB6	KCTD8_HUMAN	F	143	ENSP00000353129:V143F	ENSP00000353129:V143F	V	-	1	0	KCTD8	44144871	1.000000	0.71417	0.960000	0.40013	0.937000	0.57800	5.520000	0.67080	2.186000	0.69663	0.585000	0.79938	GTC		0.627	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			7	34	1	0	0.000157383	1	0.000169323	7	34				
LRRC37B	114659	broad.mit.edu	37	17	30348463	30348463	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:30348463G>T	ENST00000341671.7	+	1	303	c.298G>T	c.(298-300)Gaa>Taa	p.E100*	LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.E112*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.E100*|LRRC37B_ENST00000327564.7_Nonsense_Mutation_p.E127*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.E18*	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	100						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATTCCTGAAGGAATTGGATTC	0.557																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(379-381)Gaa>Taa		leucine rich repeat containing 37B							64.0	72.0	69.0					17																	30348463		2200	4299	6499	SO:0001587	stop_gained	114659					integral to membrane		g.chr17:30348463G>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.298G>T	17.37:g.30348463G>T	ENSP00000340519:p.Glu100*					LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.E100*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.E100*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.E112*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.E18*	p.E127*			Q96QE4	LR37B_HUMAN			1	440	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	100					Q17RC9|Q5YKG6	Nonsense_Mutation	SNP	ENST00000341671.7	37	c.379G>T	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	10.49	1.363850	0.24684	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	.	.	.	1.61	-2.79	0.05841	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	2.2532	0.04049	0.3686:0.0:0.3766:0.2548	.	.	.	.	X	18;127;100;100	.	ENSP00000332536:E127X	E	+	1	0	LRRC37B	27372576	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.600000	0.05693	-0.868000	0.04058	-1.541000	0.00910	GAA		0.557	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		48	159	1	0	1.30916e-28	1	1.5241e-28	48	159				
IGF2R	3482	broad.mit.edu	37	6	160464220	160464220	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:160464220G>A	ENST00000356956.1	+	12	1669	c.1521G>A	c.(1519-1521)acG>acA	p.T507T		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	507					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCAGTCAGACGGAAACAGAGA	0.468																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1519-1521)acG>acA		insulin-like growth factor 2 receptor							146.0	132.0	137.0					6																	160464220		2203	4300	6503	SO:0001819	synonymous_variant	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160464220G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1521G>A	6.37:g.160464220G>A							p.T507T	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	12	1669	+		Breast(66;0.000777)|Ovarian(120;0.0305)	507					Q7Z7G9|Q96PT5	Silent	SNP	ENST00000356956.1	37	c.1521G>A	CCDS5273.1																																																																																				0.468	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		16	103	0	0	0	1	0	16	103				
SPATA17	128153	broad.mit.edu	37	1	217842395	217842395	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:217842395G>A	ENST00000366933.4	+	4	316	c.261G>A	c.(259-261)atG>atA	p.M87I		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	87						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ATACTATGATGATGAATCTCT	0.318																																						ENST00000366933.4																			0				endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21						c.(259-261)atG>atA		spermatogenesis associated 17							138.0	141.0	140.0					1																	217842395		2203	4296	6499	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217842395G>A	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.261G>A	1.37:g.217842395G>A	ENSP00000355900:p.Met87Ile						p.M87I	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	4	316	+			87					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.261G>A	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690984	0.48097	.	.	ENSG00000162814	ENST00000366933	T	0.39997	1.05	5.91	5.91	0.95273	.	0.047476	0.85682	D	0.000000	T	0.26340	0.0643	N	0.03608	-0.345	0.38763	D	0.954363	B	0.09022	0.002	B	0.01281	0.0	T	0.10706	-1.0618	10	0.40728	T	0.16	-5.4387	20.2985	0.98592	0.0:0.0:1.0:0.0	.	87	Q96L03	SPT17_HUMAN	I	87	ENSP00000355900:M87I	ENSP00000355900:M87I	M	+	3	0	SPATA17	215909018	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.096000	0.94182	2.793000	0.96121	0.655000	0.94253	ATG		0.318	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796		10	88	0	0	0	1	0	10	88				
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGACTGCTTGTAGATGGCCAT	0.622		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(1)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM942135	TP53	M	rs148924904	c.(487-489)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							53.0	54.0	53.0					17																	7578442		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578442T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C	p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	620	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	163		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.488A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	78	0	0	0	1	0	17	78				
DHX36	170506	broad.mit.edu	37	3	154002767	154002767	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:154002767C>T	ENST00000496811.1	-	18	2121	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N	DHX36_ENST00000329463.5_Missense_Mutation_p.D667N|DHX36_ENST00000544526.1_Missense_Mutation_p.D667N|DHX36_ENST00000308361.6_Missense_Mutation_p.D681N	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	681					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTTGTTTATCCAAAGCGTTC	0.378																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(2041-2043)Gat>Aat		DEAH (Asp-Glu-Ala-His) box polypeptide 36							106.0	105.0	105.0					3																	154002767		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154002767C>T	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2041G>A	3.37:g.154002767C>T	ENSP00000417078:p.Asp681Asn					DHX36_ENST00000544526.1_Missense_Mutation_p.D667N|DHX36_ENST00000308361.6_Missense_Mutation_p.D681N|DHX36_ENST00000329463.5_Missense_Mutation_p.D667N	p.D681N	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		18	2121	-			681					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.2041G>A	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.1|26.1	4.709477|4.709477	0.89018|0.89018	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941|ENST00000469977	T;T;T;T;T|.	0.04454|.	3.62;3.62;3.62;3.62;3.62|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Helicase-associated domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77644|.	0.4161|.	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D|.	0.65815|.	0.994;0.972;0.995|.	D;P;D|.	0.67382|.	0.919;0.868;0.951|.	T|.	0.76553|.	-0.2917|.	10|.	0.51188|.	T|.	0.08|.	.|.	19.6173|19.6173	0.95639|0.95639	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	667;681;681|.	Q9H2U1-2;Q9H2U1-3;Q9H2U1|.	.;.;DHX36_HUMAN|.	N|X	681;681;667;667;595|127	ENSP00000417078:D681N;ENSP00000309296:D681N;ENSP00000444247:D667N;ENSP00000330113:D667N;ENSP00000419862:D595N|.	ENSP00000309296:D681N|.	D|W	-|-	1|3	0|0	DHX36|DHX36	155485461|155485461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	5.890000|5.890000	0.69774|0.69774	2.647000|2.647000	0.89833|0.89833	0.655000|0.655000	0.94253|0.94253	GAT|TGG		0.378	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		18	57	0	0	0	1	0	18	57				
CDHR1	92211	broad.mit.edu	37	10	85974237	85974237	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:85974237G>A	ENST00000372117.3	+	17	2543	c.2440G>A	c.(2440-2442)Gtc>Atc	p.V814I	CDHR1_ENST00000440770.2_Missense_Mutation_p.V518I|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	814	Pro-rich.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CGTGCCTACTGTCTCTGGCTC	0.622																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(2440-2442)Gtc>Atc		cadherin-related family member 1							76.0	85.0	82.0					10																	85974237		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85974237G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2440G>A	10.37:g.85974237G>A	ENSP00000361189:p.Val814Ile					CDHR1_ENST00000440770.2_Missense_Mutation_p.V518I|CDHR1_ENST00000332904.3_Intron	p.V814I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			17	2543	+			814			Pro-rich.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2440G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126292	0.37533	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.61392	0.42;0.11	5.59	3.74	0.42951	.	0.168578	0.52532	N	0.000071	T	0.47948	0.1473	L	0.52011	1.625	0.32730	N	0.509113	B;P	0.43826	0.012;0.818	B;B	0.37650	0.007;0.255	T	0.59915	-0.7364	10	0.45353	T	0.12	-30.792	10.2254	0.43222	0.1624:0.0:0.8376:0.0	.	518;814	E7EN47;Q96JP9	.;CDHR1_HUMAN	I	814;518	ENSP00000361189:V814I;ENSP00000415980:V518I	ENSP00000361189:V814I	V	+	1	0	CDHR1	85964217	0.997000	0.39634	0.600000	0.28864	0.283000	0.27025	2.519000	0.45546	0.734000	0.32515	0.591000	0.81541	GTC		0.622	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		36	184	0	0	0	1	0	36	184				
TNR	7143	broad.mit.edu	37	1	175375526	175375526	+	Missense_Mutation	SNP	C	C	G	rs149339053		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:175375526C>G	ENST00000367674.2	-	3	1033	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	TNR_ENST00000263525.2_Missense_Mutation_p.E109Q			Q92752	TENR_HUMAN	tenascin R	109					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E109K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCTGGCTCTCGTGGTCTGAG	0.587																																						ENST00000367674.1																			1	Substitution - Missense(1)	p.E109K(1)	skin(1)	NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(325-327)Gag>Cag		tenascin R							205.0	169.0	181.0					1																	175375526		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175375526C>G	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.325G>C	1.37:g.175375526C>G	ENSP00000356646:p.Glu109Gln					TNR_ENST00000263525.2_Missense_Mutation_p.E109Q	p.E109Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			3	1033	-	Renal(580;0.146)		109					C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.325G>C	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.378921	0.61735	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.32023	1.47;1.47	5.24	5.24	0.73138	.	0.166095	0.52532	D	0.000068	T	0.42471	0.1204	M	0.72894	2.215	0.38561	D	0.949716	P;B	0.52577	0.954;0.302	P;B	0.45753	0.492;0.27	T	0.53947	-0.8366	10	0.72032	D	0.01	.	18.4464	0.90685	0.0:1.0:0.0:0.0	.	109;109	B4DIX8;Q92752	.;TENR_HUMAN	Q	109	ENSP00000356646:E109Q;ENSP00000263525:E109Q	ENSP00000263525:E109Q	E	-	1	0	TNR	173642149	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.378000	0.66190	2.445000	0.82738	0.561000	0.74099	GAG		0.587	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		15	105	0	0	0	1	0	15	105				
EGFLAM	133584	broad.mit.edu	37	5	38418304	38418304	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:38418304G>A	ENST00000354891.3	+	12	1977	c.1631G>A	c.(1630-1632)aGa>aAa	p.R544K	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R544K|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R310K	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	544	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATGGGAGGAGAATTGACATG	0.562																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1630-1632)aGa>aAa		EGF-like, fibronectin type III and laminin G domains							88.0	93.0	91.0					5																	38418304		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38418304G>A	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1631G>A	5.37:g.38418304G>A	ENSP00000346964:p.Arg544Lys					EGFLAM_ENST00000354891.3_Missense_Mutation_p.R544K|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R310K|EGFLAM_ENST00000397202.2_Intron	p.R544K	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			12	1977	+	all_lung(31;0.000385)		544			Laminin G-like 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.1631G>A	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	7.098	0.573450	0.13623	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.74632	-0.86;-0.86;-0.86	5.78	1.3	0.21679	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, subdomain 1 (1);	0.662730	0.16340	N	0.218728	T	0.43942	0.1270	N	0.12182	0.205	0.33393	D	0.576368	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.001;0.002;0.003	T	0.39121	-0.9629	10	0.05620	T	0.96	-35.5927	1.2837	0.02046	0.2984:0.1211:0.3958:0.1847	.	310;544;544	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	K	544;544;310;310	ENSP00000346964:R544K;ENSP00000313084:R544K;ENSP00000337607:R310K	ENSP00000313084:R544K	R	+	2	0	EGFLAM	38454061	0.001000	0.12720	0.814000	0.32528	0.720000	0.41350	-0.135000	0.10420	0.320000	0.23234	0.557000	0.71058	AGA		0.562	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		23	47	0	0	0	1	0	23	47				
GK	2710	broad.mit.edu	37	X	30686182	30686182	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:30686182A>G	ENST00000378941.3	+	3	206	c.206A>G	c.(205-207)gAg>gGg	p.E69G	GK_ENST00000427190.1_5'UTR|GK_ENST00000378943.3_Missense_Mutation_p.E69G|GK_ENST00000378946.3_Missense_Mutation_p.E69G|GK_ENST00000378945.3_Missense_Mutation_p.E69G			P32189	GLPK_HUMAN	glycerol kinase	69					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)			central_nervous_system(1)|large_intestine(3)	4						GAGTGTATAGAGAAAACATGT	0.333																																						ENST00000378943.3																			0				central_nervous_system(1)|large_intestine(3)	4						c.(205-207)gAg>gGg		glycerol kinase							68.0	59.0	62.0					X																	30686182		2202	4292	6494	SO:0001583	missense	2710				glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chrX:30686182A>G	X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.206A>G	X.37:g.30686182A>G	ENSP00000368224:p.Glu69Gly					GK_ENST00000378945.3_Missense_Mutation_p.E69G|GK_ENST00000427190.1_5'UTR|GK_ENST00000378941.3_Missense_Mutation_p.E69G|GK_ENST00000378946.3_Missense_Mutation_p.E69G	p.E69G	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN			3	385	+			69					A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Missense_Mutation	SNP	ENST00000378941.3	37	c.206A>G		.	.	.	.	.	.	.	.	.	.	A	14.07	2.426624	0.43020	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000378941	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.58	5.58	0.84498	.	0.148177	0.64402	D	0.000014	T	0.55257	0.1909	M	0.67397	2.05	0.80722	D	1	B;B;B	0.31859	0.141;0.141;0.343	B;B;B	0.42593	0.272;0.272;0.392	T	0.55108	-0.8192	10	0.39692	T	0.17	.	13.6258	0.62163	1.0:0.0:0.0:0.0	.	69;69;69	P32189-2;P32189-1;A6NJP5	.;.;.	G	69	ENSP00000368229:E69G;ENSP00000368226:E69G;ENSP00000368228:E69G;ENSP00000368224:E69G	ENSP00000368224:E69G	E	+	2	0	GK	30596103	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.451000	0.90343	1.861000	0.53984	0.345000	0.21793	GAG		0.333	GK-005	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000056171.1	NM_000167		10	25	0	0	0	1	0	10	25				
DNAH2	146754	broad.mit.edu	37	17	7662351	7662351	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:7662351C>A	ENST00000572933.1	+	15	3817	c.2357C>A	c.(2356-2358)gCa>gAa	p.A786E	DNAH2_ENST00000389173.2_Missense_Mutation_p.A786E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	786	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGCATCGGGCAGCTGTACAG	0.507																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2356-2358)gCa>gAa		dynein, axonemal, heavy chain 2							100.0	87.0	92.0					17																	7662351		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7662351C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2357C>A	17.37:g.7662351C>A	ENSP00000458355:p.Ala786Glu					DNAH2_ENST00000389173.2_Missense_Mutation_p.A786E	p.A786E			Q9P225	DYH2_HUMAN			15	3817	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	786			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2357C>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	0.720	-0.783741	0.02907	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.22134	1.97	5.42	-0.636	0.11508	.	1.839030	0.02411	N	0.081645	T	0.09335	0.0230	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16512	-1.0400	10	0.02654	T	1	.	1.4814	0.02437	0.2964:0.3507:0.1938:0.1591	.	786	Q9P225	DYH2_HUMAN	E	786	ENSP00000373825:A786E	ENSP00000353818:A786E	A	+	2	0	DNAH2	7603076	0.014000	0.17966	0.109000	0.21407	0.885000	0.51271	0.229000	0.17833	0.224000	0.20940	0.555000	0.69702	GCA		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	50	1	0	0.0293803	1	0.0299564	7	50				
C6	729	broad.mit.edu	37	5	41142954	41142954	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:41142954T>C	ENST00000263413.3	-	18	3042	c.2778A>G	c.(2776-2778)atA>atG	p.I926M	C6_ENST00000337836.5_Missense_Mutation_p.I926M	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	926	C5b-binding domain.|Factor I module (FIM) 2.|Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGGATGCAGTATTTCCATCT	0.413																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(2776-2778)atA>atG		complement component 6							225.0	186.0	199.0					5																	41142954		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41142954T>C	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.2778A>G	5.37:g.41142954T>C	ENSP00000263413:p.Ile926Met					C6_ENST00000337836.5_Missense_Mutation_p.I926M	p.I926M	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			18	3042	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	926			C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.			Missense_Mutation	SNP	ENST00000263413.3	37	c.2778A>G	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	T	16.30	3.085237	0.55861	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.64438	-0.1;-0.1	5.71	1.94	0.25998	Factor I / membrane attack complex (1);	0.255620	0.45606	D	0.000350	T	0.65554	0.2702	L	0.61036	1.89	0.37095	D	0.899612	D	0.65815	0.995	P	0.62382	0.901	T	0.65319	-0.6197	10	0.41790	T	0.15	-1.1156	1.534	0.02542	0.1567:0.135:0.1622:0.5461	.	926	P13671	CO6_HUMAN	M	926	ENSP00000338861:I926M;ENSP00000263413:I926M	ENSP00000263413:I926M	I	-	3	3	C6	41178711	0.982000	0.34865	0.998000	0.56505	0.743000	0.42351	-0.035000	0.12205	0.401000	0.25424	0.528000	0.53228	ATA		0.413	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			24	44	0	0	0	1	0	24	44				
RNF111	54778	broad.mit.edu	37	15	59368279	59368279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:59368279C>T	ENST00000557998.1	+	7	2100	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000348370.4_Nonsense_Mutation_p.Q605*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q605*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	605					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q605*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTTTGGCCATCAGGCCGCTGC	0.557																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4																			1	Substitution - Nonsense(1)	p.Q605*(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1813-1815)Cag>Tag		ring finger protein 111							90.0	87.0	88.0					15																	59368279		2192	4291	6483	SO:0001587	stop_gained	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59368279C>T	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1813C>T	15.37:g.59368279C>T	ENSP00000452732:p.Gln605*					RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000557998.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q605*	p.Q605*	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	7	2246	+			605					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	ENST00000557998.1	37	c.1813C>T	CCDS58366.1	.	.	.	.	.	.	.	.	.	.	C	43	10.212615	0.99360	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.66	5.66	0.87406	.	0.111307	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.346	20.1225	0.97967	0.0:1.0:0.0:0.0	.	.	.	.	X	605	.	ENSP00000288199:Q605X	Q	+	1	0	RNF111	57155571	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.231000	0.78106	2.831000	0.97527	0.650000	0.86243	CAG		0.557	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	NM_017610		24	119	0	0	0	1	0	24	119				
NFKB1	4790	broad.mit.edu	37	4	103533614	103533614	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:103533614G>C	ENST00000505458.1	+	22	2717	c.2440G>C	c.(2440-2442)Gat>Cat	p.D814H	NFKB1_ENST00000226574.4_Missense_Mutation_p.D815H|NFKB1_ENST00000600343.1_Missense_Mutation_p.D634H|NFKB1_ENST00000394820.4_Missense_Mutation_p.D814H			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	814	Death.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GCTGGCTGAAGATGTGAAGCT	0.448																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(2443-2445)Gat>Cat		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						63.0	64.0	64.0					4																	103533614		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103533614G>C	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2440G>C	4.37:g.103533614G>C	ENSP00000424790:p.Asp814His					NFKB1_ENST00000505458.1_Missense_Mutation_p.D814H|NFKB1_ENST00000600343.1_Missense_Mutation_p.D634H|NFKB1_ENST00000394820.4_Missense_Mutation_p.D814H	p.D815H	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	22	2910	+		Hepatocellular(203;0.217)	814			Death.|Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.2443G>C	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774956	0.31411	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.19105	2.17;2.17;2.17	5.12	4.28	0.50868	Death (1);DEATH-like (2);	0.780131	0.11604	N	0.547501	T	0.29158	0.0725	L	0.43152	1.355	0.20703	N	0.999864	P;P;P	0.47604	0.694;0.641;0.898	B;B;P	0.51355	0.326;0.365;0.667	T	0.09058	-1.0692	10	0.62326	D	0.03	-11.6938	10.3858	0.44138	0.1708:0.0:0.8292:0.0	.	634;814;815	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	H	815;814;814	ENSP00000226574:D815H;ENSP00000378297:D814H;ENSP00000424790:D814H	ENSP00000226574:D815H	D	+	1	0	NFKB1	103752660	1.000000	0.71417	0.584000	0.28653	0.860000	0.49131	2.870000	0.48451	1.161000	0.42604	0.557000	0.71058	GAT		0.448	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			12	51	0	0	0	1	0	12	51				
PCDH17	27253	broad.mit.edu	37	13	58207202	58207202	+	Silent	SNP	C	C	T	rs141382823	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr13:58207202C>T	ENST00000377918.3	+	1	548	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	174	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCACGCGCGACGATCACGGCC	0.647																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(520-522)gaC>gaT		protocadherin 17		C	,ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	36.0	37.0	37.0		522,106	0.8	1.0	13	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous,missense	PCDH17,LOC100129744	NM_001040429.2,XM_001723567.1	,29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	,	174/1160,36/71	58207202	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207202C>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.522C>T	13.37:g.58207202C>T							p.D174D	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	548	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	174			Cadherin 2.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.522C>T	CCDS31986.1																																																																																				0.647	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		4	24	0	0	0	1	0	4	24				
PIGT	51604	broad.mit.edu	37	20	44045292	44045292	+	Nonsense_Mutation	SNP	C	C	A	rs200326105		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr20:44045292C>A	ENST00000279036.6	+	2	403	c.323C>A	c.(322-324)tCa>tAa	p.S108*	PIGT_ENST00000545755.1_Intron|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000279035.9_Intron|PIGT_ENST00000543458.2_Nonsense_Mutation_p.S108*|PIGT_ENST00000372689.5_Nonsense_Mutation_p.S108*	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	108					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CAGGCCCCATCAGGTGCAGAG	0.582																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(322-324)tCa>tAa		phosphatidylinositol glycan anchor biosynthesis, class T							49.0	43.0	45.0					20																	44045292		2203	4300	6503	SO:0001587	stop_gained	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44045292C>A		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.323C>A	20.37:g.44045292C>A	ENSP00000279036:p.Ser108*					PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_Intron|PIGT_ENST00000372689.5_Nonsense_Mutation_p.S108*|PIGT_ENST00000535404.1_5'UTR|PIGT_ENST00000543458.2_Nonsense_Mutation_p.S108*|PIGT_ENST00000279035.9_Intron	p.S108*	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN			2	403	+		Myeloproliferative disorder(115;0.0122)	108					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Nonsense_Mutation	SNP	ENST00000279036.6	37	c.323C>A	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	39	7.303172	0.98200	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279036	.	.	.	5.94	5.94	0.96194	.	0.197954	0.45126	D	0.000392	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-12.4856	19.3434	0.94355	0.0:1.0:0.0:0.0	.	.	.	.	X	108	.	ENSP00000279036:S108X	S	+	2	0	PIGT	43478706	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.471000	0.80985	2.812000	0.96745	0.557000	0.71058	TCA		0.582	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		8	41	1	0	0.0381472	1	0.0386426	8	41				
KRT12	3859	broad.mit.edu	37	17	39020020	39020020	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:39020020G>A	ENST00000251643.4	-	4	927	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	302	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	TACTGCGCCCGCATATCATTG	0.552																																						ENST00000251643.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(904-906)Cgg>Tgg		keratin 12							57.0	59.0	58.0					17																	39020020		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39020020G>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.904C>T	17.37:g.39020020G>A	ENSP00000251643:p.Arg302Trp						p.R302W	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN			4	927	-		Breast(137;0.000301)	302			Coil 2.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.904C>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210959	0.79240	.	.	ENSG00000187242	ENST00000251643	D	0.93488	-3.23	5.58	1.98	0.26296	Filament (1);	0.000000	0.56097	D	0.000036	D	0.97052	0.9037	M	0.92833	3.35	0.50039	D	0.999846	D	0.89917	1.0	D	0.97110	1.0	D	0.97090	0.9790	10	0.87932	D	0	.	13.1781	0.59639	0.0:0.0:0.4297:0.5703	.	302	Q99456	K1C12_HUMAN	W	302	ENSP00000251643:R302W	ENSP00000251643:R302W	R	-	1	2	KRT12	36273546	0.997000	0.39634	0.990000	0.47175	0.977000	0.68977	0.280000	0.18790	0.422000	0.26005	-0.467000	0.05162	CGG		0.552	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		13	56	0	0	0	1	0	13	56				
TMEM180	79847	broad.mit.edu	37	10	104233472	104233472	+	Silent	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:104233472C>A	ENST00000238936.4	+	8	1308	c.1071C>A	c.(1069-1071)ctC>ctA	p.L357L	TMEM180_ENST00000366277.2_Silent_p.L86L	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	357						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGGACCACCTCAGCCTGCTGT	0.652																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(1069-1071)ctC>ctA		transmembrane protein 180							144.0	118.0	127.0					10																	104233472		2203	4300	6503	SO:0001819	synonymous_variant	79847					integral to membrane		g.chr10:104233472C>A	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.1071C>A	10.37:g.104233472C>A						TMEM180_ENST00000366277.2_Silent_p.L86L	p.L357L	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	1308	+		Colorectal(252;0.122)	357					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Silent	SNP	ENST00000238936.4	37	c.1071C>A	CCDS7535.1																																																																																				0.652	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		22	104	1	0	6.33239e-15	1	7.26362e-15	22	104				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	65	0	0	0	1	0	11	65				
CDK9	1025	broad.mit.edu	37	9	130548517	130548517	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:130548517C>G	ENST00000373264.4	+	1	190	c.90C>G	c.(88-90)ttC>ttG	p.F30L	CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373265.2_Missense_Mutation_p.F147L|MIR3960_ENST00000583311.1_RNA	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	30	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|DNA repair (GO:0006281)|gene expression (GO:0010467)|negative regulation of cell cycle arrest (GO:0071157)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of DNA repair (GO:0006282)|regulation of histone modification (GO:0031056)|replication fork arrest (GO:0043111)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|positive transcription elongation factor complex b (GO:0008024)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA binding (GO:0003677)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			lung(1)	1						AAGGCACCTTCGGGTAAGGCT	0.647																																						ENST00000373265.2																			0				lung(1)	1						c.(439-441)ttC>ttG		cyclin-dependent kinase 9							42.0	45.0	44.0					9																	130548517		2203	4300	6503	SO:0001583	missense	1025				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|cyclin-dependent protein kinase activity|DNA binding|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr9:130548517C>G	L25676	CCDS6879.1	9q34.1	2011-11-08	2007-11-21		ENSG00000136807	ENSG00000136807		"""Cyclin-dependent kinases"""	1780	protein-coding gene	gene with protein product		603251	"""cyclin-dependent kinase 9 (CDC2-related kinase)"""	CDC2L4		8170997, 9356449	Standard	NM_001261		Approved	PITALRE, C-2k, TAK	uc004bse.2	P50750	OTTHUMG00000020715	ENST00000373264.4:c.90C>G	9.37:g.130548517C>G	ENSP00000362361:p.Phe30Leu					CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373264.4_Missense_Mutation_p.F30L	p.F147L			P50750	CDK9_HUMAN			1	441	+			30			Protein kinase.		Q5JU24|Q5JU25|Q5U006|Q96TF1	Missense_Mutation	SNP	ENST00000373264.4	37	c.441C>G	CCDS6879.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.264820	0.59431	.	.	ENSG00000136807	ENST00000421939;ENST00000373265;ENST00000373264	T;T;T	0.52983	0.64;0.64;0.64	4.02	-3.24	0.05094	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.90595	3.13	0.80722	D	1	B	0.23650	0.089	B	0.31191	0.125	T	0.56962	-0.7892	10	0.87932	D	0	-4.3926	12.2536	0.54611	0.0:0.7827:0.0:0.2173	.	30	P50750	CDK9_HUMAN	L	147;147;30	ENSP00000395872:F147L;ENSP00000362362:F147L;ENSP00000362361:F30L	ENSP00000362361:F30L	F	+	3	2	CDK9	129588338	0.714000	0.27936	0.989000	0.46669	0.947000	0.59692	-0.207000	0.09384	-0.532000	0.06332	-0.367000	0.07326	TTC		0.647	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054235.1			20	97	0	0	0	1	0	20	97				
ZNF106	64397	broad.mit.edu	37	15	42720295	42720295	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:42720295C>T	ENST00000263805.4	-	12	5176	c.4850G>A	c.(4849-4851)cGg>cAg	p.R1617Q	ZNF106_ENST00000565611.1_Missense_Mutation_p.R802Q|RNU6-188P_ENST00000364207.1_RNA|ZNF106_ENST00000565380.1_Missense_Mutation_p.R845Q	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1617					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCAGAGGACCCGGTCTTCCAG	0.483																																						ENST00000263805.4																			0											c.(4849-4851)cGg>cAg		zinc finger protein 106							126.0	101.0	110.0					15																	42720295		2203	4299	6502	SO:0001583	missense	64397							g.chr15:42720295C>T	AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4850G>A	15.37:g.42720295C>T	ENSP00000263805:p.Arg1617Gln					ZNF106_ENST00000565611.1_Missense_Mutation_p.R802Q|ZNF106_ENST00000565380.1_Missense_Mutation_p.R845Q	p.R1617Q	NM_022473.1	NP_071918.1					12	5176	-								B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	c.4850G>A	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913296	0.92178	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.18960	2.18	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.994	T	0.11941	-1.0567	10	0.66056	D	0.02	-14.7953	19.1408	0.93445	0.0:1.0:0.0:0.0	.	845;1617;845	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	Q	1617;845	ENSP00000263805:R1617Q	ENSP00000263805:R1617Q	R	-	2	0	ZFP106	40507587	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.285000	0.78660	2.758000	0.94735	0.655000	0.94253	CGG		0.483	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473		19	59	0	0	0	1	0	19	59				
LINC00482	284185	broad.mit.edu	37	17	79278484	79278484	+	lincRNA	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:79278484C>A	ENST00000332012.5	-	0	1109					NR_038080.1		Q8N8I6	CQ055_HUMAN	long intergenic non-protein coding RNA 482																		CAGGGTCCCTCACCTGCTCCC	0.627																																						ENST00000332012.5																			0																				42.0	48.0	46.0					17																	79278484		2058	4177	6235			284185							g.chr17:79278484C>A	AK096740		17q25.3	2012-10-12	2011-09-01	2011-09-01	ENSG00000185168	ENSG00000185168		"""Long non-coding RNAs"""	26816	non-coding RNA	RNA, long non-coding			"""chromosome 17 open reading frame 55"""	C17orf55			Standard	NR_038080		Approved	FLJ39421	uc002kac.1	Q8N8I6			17.37:g.79278484C>A								NR_038080.1						0	1109	-									RNA	SNP	ENST00000332012.5	37																																																																																						0.627	LINC00482-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439605.1	NM_178519		4	12	1	0	0.00024832	1	0.000265328	4	12				
CACNA1I	8911	broad.mit.edu	37	22	40060134	40060134	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr22:40060134G>A	ENST00000402142.3	+	20	3636	c.3636G>A	c.(3634-3636)acG>acA	p.T1212T	CACNA1I_ENST00000336649.4_Silent_p.T1218T|CACNA1I_ENST00000400164.3_Silent_p.T1177T|CACNA1I_ENST00000401624.1_Silent_p.T1212T|CACNA1I_ENST00000407673.1_Silent_p.T1177T|CACNA1I_ENST00000404898.1_Silent_p.T1177T	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1212					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	ACATCTTCACGGCCATCTTCG	0.632																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3652-3654)acG>acA		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						88.0	92.0	91.0					22																	40060134		1971	4150	6121	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40060134G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3636G>A	22.37:g.40060134G>A						CACNA1I_ENST00000402142.3_Silent_p.T1212T|CACNA1I_ENST00000400164.3_Silent_p.T1177T|CACNA1I_ENST00000401624.1_Silent_p.T1212T|CACNA1I_ENST00000407673.1_Silent_p.T1177T|CACNA1I_ENST00000404898.1_Silent_p.T1177T	p.T1218T			Q9P0X4	CAC1I_HUMAN			23	3654	+	Melanoma(58;0.0749)		1212					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.3654G>A	CCDS46710.1																																																																																				0.632	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		3	26	0	0	0	1	0	3	26				
KMT2C	58508	broad.mit.edu	37	7	152055756	152055756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr7:152055756G>A	ENST00000262189.6	-	2	384	c.166C>T	c.(166-168)Cga>Tga	p.R56*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R56*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	56					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R56*(2)									CCCCTACTTCGAGGTCTACAG	0.358																																						ENST00000355193.2																			2	Substitution - Nonsense(2)	p.R56*(2)	lung(2)								c.(166-168)Cga>Tga		lysine (K)-specific methyltransferase 2C							149.0	144.0	146.0					7																	152055756		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:152055756G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.166C>T	7.37:g.152055756G>A	ENSP00000262189:p.Arg56*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R56*	p.R56*							2	384	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.166C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.209005	0.79240	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000452749	.	.	.	5.21	5.21	0.72293	.	0.000000	0.36815	N	0.002390	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.5194	0.87783	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000262189:R56X	R	-	1	2	MLL3	151686689	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	4.846000	0.62860	2.443000	0.82685	0.650000	0.86243	CGA		0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			14	84	0	0	0	1	0	14	84				
XIRP2	129446	broad.mit.edu	37	2	168108057	168108057	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr2:168108057T>A	ENST00000409195.1	+	9	10244	c.10155T>A	c.(10153-10155)agT>agA	p.S3385R	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S3163R|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3385R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3210					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAACACGAGTTTTACAGACT	0.383																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(10153-10155)agT>agA		xin actin-binding repeat containing 2							133.0	131.0	132.0					2																	168108057		1838	4081	5919	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168108057T>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.10155T>A	2.37:g.168108057T>A	ENSP00000386840:p.Ser3385Arg					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S3163R|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S3385R|XIRP2_ENST00000409728.1_Intron	p.S3385R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	10244	+			3210					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.10155T>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	4.593	0.110146	0.08780	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02763	4.17;4.17;4.17	6.07	3.71	0.42584	.	0.620603	0.16632	N	0.206037	T	0.02649	0.0080	L	0.29908	0.895	0.20764	N	0.999851	B;B;B	0.11235	0.003;0.004;0.004	B;B;B	0.09377	0.002;0.004;0.004	T	0.43180	-0.9407	10	0.49607	T	0.09	-1.9393	6.4446	0.21869	0.0:0.0826:0.1577:0.7596	.	3210;3210;3163	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	3385;3385;3163;799	ENSP00000386840:S3385R;ENSP00000295237:S3385R;ENSP00000387255:S3163R	ENSP00000295237:S3385R	S	+	3	2	XIRP2	167816303	0.145000	0.22656	0.027000	0.17364	0.081000	0.17604	0.070000	0.14573	0.536000	0.28733	0.477000	0.44152	AGT		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		18	83	0	0	0	1	0	18	83				
CEACAM7	1087	broad.mit.edu	37	19	42187738	42187738	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:42187738G>A	ENST00000006724.3	-	3	885	c.684C>T	c.(682-684)gaC>gaT	p.D228D	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000401731.1_Silent_p.D228D	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	228	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGGTGACTGGGTCACTGCGGC	0.547																																						ENST00000006724.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(682-684)gaC>gaT		carcinoembryonic antigen-related cell adhesion molecule 7							167.0	162.0	163.0					19																	42187738		2203	4300	6503	SO:0001819	synonymous_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42187738G>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.684C>T	19.37:g.42187738G>A						CEACAM7_ENST00000401731.1_Silent_p.D228D|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron	p.D228D	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	3	885	-			228			Ig-like C2-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Silent	SNP	ENST00000006724.3	37	c.684C>T	CCDS12583.1																																																																																				0.547	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		35	193	0	0	0	1	0	35	193				
SLC9A1	6548	broad.mit.edu	37	1	27427083	27427083	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:27427083C>T	ENST00000263980.3	-	12	2738	c.2163G>A	c.(2161-2163)ccG>ccA	p.P721P	SLC9A1_ENST00000545949.1_Silent_p.P382P|SLC9A1_ENST00000490329.1_5'Flank	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	721					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCGGGGAAGCCGGGTCGATGG	0.617																																						ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2161-2163)ccG>ccA		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						187.0	182.0	184.0					1																	27427083		2203	4300	6503	SO:0001819	synonymous_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27427083C>T	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2163G>A	1.37:g.27427083C>T						SLC9A1_ENST00000545949.1_Silent_p.P382P	p.P721P	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2738	-			721					B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	c.2163G>A	CCDS295.1																																																																																				0.617	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		20	325	0	0	0	1	0	20	325				
HECTD2	143279	broad.mit.edu	37	10	93221956	93221956	+	Intron	SNP	A	A	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:93221956A>T	ENST00000298068.5	+	5	694				HECTD2_ENST00000536715.1_Intron|HECTD2_ENST00000371681.4_Silent_p.T205T|HECTD2_ENST00000446394.1_Intron	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GTATTATGACATGCAAGTAAT	0.313																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000371681.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(613-615)acA>acT		HECT domain containing E3 ubiquitin protein ligase 2							146.0	144.0	145.0					10																	93221956		2203	4291	6494	SO:0001627	intron_variant	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93221956A>T	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.600+15A>T	10.37:g.93221956A>T						HECTD2_ENST00000298068.5_Intron|HECTD2_ENST00000446394.1_Intron|HECTD2_ENST00000536715.1_Intron	p.T205T	NM_173497.2	NP_775768.2	Q5U5R9	HECD2_HUMAN			5	710	+			0					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Silent	SNP	ENST00000298068.5	37	c.615A>T	CCDS7414.1																																																																																				0.313	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			10	58	0	0	0	1	0	10	58				
NLRP14	338323	broad.mit.edu	37	11	7064249	7064249	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:7064249C>G	ENST00000299481.4	+	4	1338	c.992C>G	c.(991-993)tCt>tGt	p.S331C		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	331	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTAGGAATGTCTGAGGATGCA	0.398																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(991-993)tCt>tGt		NLR family, pyrin domain containing 14							107.0	109.0	109.0					11																	7064249		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064249C>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.992C>G	11.37:g.7064249C>G	ENSP00000299481:p.Ser331Cys						p.S331C	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1338	+			331			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.992C>G	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410202	0.25465	.	.	ENSG00000158077	ENST00000299481	D	0.83506	-1.73	4.51	3.57	0.40892	NACHT nucleoside triphosphatase (1);	0.617568	0.14600	N	0.309689	D	0.83229	0.5209	M	0.86573	2.825	0.20489	N	0.999896	B	0.18013	0.025	B	0.23018	0.043	T	0.77067	-0.2725	10	0.72032	D	0.01	.	6.2199	0.20675	0.0:0.7084:0.1915:0.1001	.	331	Q86W24	NAL14_HUMAN	C	331	ENSP00000299481:S331C	ENSP00000299481:S331C	S	+	2	0	NLRP14	7020825	0.498000	0.26075	0.548000	0.28192	0.858000	0.48976	1.095000	0.30964	1.227000	0.43598	0.655000	0.94253	TCT		0.398	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		27	86	0	0	0	1	0	27	86				
FAT1	2195	broad.mit.edu	37	4	187549314	187549314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:187549314C>A	ENST00000441802.2	-	9	5013	c.4804G>T	c.(4804-4806)Gag>Tag	p.E1602*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1602	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTACCTGACTCGATCGAGTAC	0.448										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4804-4806)Gag>Tag		FAT atypical cadherin 1							34.0	35.0	34.0					4																	187549314		1990	4178	6168	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549314C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4804G>T	4.37:g.187549314C>A	ENSP00000406229:p.Glu1602*	HNSCC(5;0.00058)					p.E1602*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			9	5013	-			1602			Cadherin 14.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.4804G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	45	11.507766	0.99570	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.5755	0.95441	0.0:1.0:0.0:0.0	.	.	.	.	X	1602;1601	.	ENSP00000260147:E1601X	E	-	1	0	FAT1	187786308	1.000000	0.71417	0.921000	0.36526	0.336000	0.28762	7.651000	0.83577	2.865000	0.98341	0.655000	0.94253	GAG		0.448	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		3	9	1	0	0.004672	1	0.0048267	3	9				
SLC25A2	83884	broad.mit.edu	37	5	140683010	140683010	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:140683010C>G	ENST00000239451.4	-	1	602	c.423G>C	c.(421-423)gaG>gaC	p.E141D		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	141					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TCCCTGACATCTCCATTTCAT	0.517																																						ENST00000239451.4																			0				breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(421-423)gaG>gaC		solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	L-Ornithine(DB00129)						99.0	106.0	104.0					5																	140683010		2203	4300	6503	SO:0001583	missense	83884				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	g.chr5:140683010C>G	AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.423G>C	5.37:g.140683010C>G	ENSP00000239451:p.Glu141Asp						p.E141D	NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	1	602	-		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	141					Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	c.423G>C	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417094	0.25552	.	.	ENSG00000120329	ENST00000239451	T	0.79247	-1.25	3.78	1.99	0.26369	Mitochondrial carrier domain (2);	0.415220	0.23904	U	0.043404	T	0.66771	0.2823	L	0.48986	1.54	0.27075	N	0.963235	B	0.27264	0.173	B	0.29440	0.102	T	0.51068	-0.8752	10	0.13108	T	0.6	-11.8776	8.0364	0.30495	0.0:0.7914:0.0:0.2086	.	141	Q9BXI2	ORNT2_HUMAN	D	141	ENSP00000239451:E141D	ENSP00000239451:E141D	E	-	3	2	SLC25A2	140663194	0.635000	0.27199	0.406000	0.26421	0.794000	0.44872	0.834000	0.27518	0.580000	0.29522	-0.145000	0.13849	GAG		0.517	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947		9	122	0	0	0	1	0	9	122				
AVPR2	554	broad.mit.edu	37	X	153171135	153171135	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:153171135C>A	ENST00000358927.2	+	3	384	c.175C>A	c.(175-177)Ctg>Atg	p.L59M	AVPR2_ENST00000337474.5_Missense_Mutation_p.L59M|AVPR2_ENST00000370049.1_Missense_Mutation_p.L59M			P30518	V2R_HUMAN	arginine vasopressin receptor 2	59			L -> P (in XNDI).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TGGCCTGGTGCTGGCGGCCCT	0.692																																						ENST00000358927.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26						c.(175-177)Ctg>Atg		arginine vasopressin receptor 2	Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)						16.0	20.0	19.0					X																	153171135		2197	4283	6480	SO:0001583	missense	554				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	g.chrX:153171135C>A	Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.175C>A	X.37:g.153171135C>A	ENSP00000351805:p.Leu59Met					AVPR2_ENST00000337474.5_Missense_Mutation_p.L59M|AVPR2_ENST00000370049.1_Missense_Mutation_p.L59M	p.L59M			P30518	V2R_HUMAN			3	384	+	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		59		L -> P (in XNDI).			C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	c.175C>A	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149805	0.57151	.	.	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	4.03	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.086211	0.49305	D	0.000143	D	0.86847	0.6031	M	0.90595	3.13	0.48830	D	0.999712	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87165	0.2217	10	0.87932	D	0	-13.2525	10.2301	0.43250	0.0:0.8943:0.0:0.1057	.	59;59	P30518-2;P30518	.;V2R_HUMAN	M	59	ENSP00000351805:L59M;ENSP00000393513:L59M;ENSP00000338072:L59M;ENSP00000359066:L59M	ENSP00000338072:L59M	L	+	1	2	AVPR2	152824329	0.985000	0.35326	0.991000	0.47740	0.834000	0.47266	1.476000	0.35420	0.650000	0.30769	0.173000	0.16961	CTG		0.692	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			9	41	1	0	1.08611e-07	1	1.21894e-07	9	41				
ZBTB45	84878	broad.mit.edu	37	19	59028362	59028362	+	Missense_Mutation	SNP	C	C	T	rs200258269		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr19:59028362C>T	ENST00000594051.1	-	2	1159	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	ZBTB45_ENST00000354590.3_Missense_Mutation_p.G227S|ZBTB45_ENST00000600990.1_Missense_Mutation_p.G227S			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	227					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TCGCCTGGGCCGCCACCTTCG	0.657											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(679-681)Ggc>Agc		zinc finger and BTB domain containing 45							181.0	189.0	186.0					19																	59028362		2202	4299	6501	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028362C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.679G>A	19.37:g.59028362C>T	ENSP00000469089:p.Gly227Ser		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000354590.3_Missense_Mutation_p.G227S|ZBTB45_ENST00000600990.1_Missense_Mutation_p.G227S	p.G227S			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	1159	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	227						Missense_Mutation	SNP	ENST00000594051.1	37	c.679G>A	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	13.20	2.167656	0.38315	.	.	ENSG00000119574	ENST00000354590	T	0.08193	3.12	3.13	3.13	0.36017	.	0.468738	0.18911	U	0.127747	T	0.02848	0.0085	N	0.14661	0.345	0.09310	N	1	P	0.47253	0.892	B	0.27262	0.078	T	0.42783	-0.9431	10	0.13853	T	0.58	.	7.7557	0.28923	0.2496:0.7504:0.0:0.0	.	227	Q96K62	ZBT45_HUMAN	S	227	ENSP00000346603:G227S	ENSP00000346603:G227S	G	-	1	0	ZBTB45	63720174	0.000000	0.05858	0.029000	0.17559	0.690000	0.40134	0.994000	0.29693	2.070000	0.61991	0.467000	0.42956	GGC		0.657	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		185	398	0	0	0	1	0	185	398				
CLDN16	10686	broad.mit.edu	37	3	190106151	190106151	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:190106151C>G	ENST00000264734.2	+	1	491	c.243C>G	c.(241-243)ttC>ttG	p.F81L	CLDN16_ENST00000456423.1_Missense_Mutation_p.F81L|CLDN16_ENST00000468220.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	81					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		TCGCTTGCTTCTTTGCCTTTT	0.517																																						ENST00000264734.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19						c.(241-243)ttC>ttG		claudin 16							318.0	282.0	294.0					3																	190106151		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190106151C>G	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.243C>G	3.37:g.190106151C>G	ENSP00000264734:p.Phe81Leu					CLDN16_ENST00000456423.1_Missense_Mutation_p.F81L|CLDN16_ENST00000468220.1_Intron	p.F81L	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	1	491	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		81						Missense_Mutation	SNP	ENST00000264734.2	37	c.243C>G	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808397	0.31961	.	.	ENSG00000113946	ENST00000264734;ENST00000456423	D;D	0.91740	-2.24;-2.9	5.91	0.965	0.19661	.	0.146052	0.48286	D	0.000199	D	0.83599	0.5289	L	0.40543	1.245	0.37307	D	0.908972	P;B	0.40180	0.705;0.012	B;B	0.34242	0.178;0.011	T	0.77843	-0.2437	10	0.22706	T	0.39	-5.671	7.7718	0.29012	0.0:0.5723:0.0:0.4276	.	81;81	A0SDD8;Q9Y5I7	.;CLD16_HUMAN	L	81	ENSP00000264734:F81L;ENSP00000414136:F81L	ENSP00000264734:F81L	F	+	3	2	CLDN16	191588845	0.994000	0.37717	0.999000	0.59377	0.683000	0.39861	0.208000	0.17415	0.371000	0.24564	0.460000	0.39030	TTC		0.517	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		25	196	0	0	0	1	0	25	196				
GRM1	2911	broad.mit.edu	37	6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	rs553512718		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:146480607G>A	ENST00000282753.1	+	2	1059	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000392299.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGACTCTTGCGCAAACTCCGA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.001		0.0	False		,,,				2504	0.0					ENST00000392299.2																			1	Substitution - Missense(1)	p.R275H(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(823-825)cGc>cAc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						93.0	84.0	87.0					6																	146480607		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480607G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.824G>A	6.37:g.146480607G>A	ENSP00000282753:p.Arg275His					GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H	p.R275H			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1294	+		Ovarian(120;0.0387)	275					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.824G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838921	0.91117	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.053988	0.64402	D	0.000002	D	0.82398	0.5028	L	0.53671	1.685	0.53688	D	0.999976	P;D;P;P	0.64830	0.932;0.994;0.945;0.932	P;P;P;P	0.58780	0.537;0.845;0.667;0.537	D	0.84833	0.0803	10	0.72032	D	0.01	.	9.6698	0.40006	0.1545:0.0:0.8455:0.0	.	275;275;270;275	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	275	ENSP00000354896:R275H;ENSP00000376119:R275H;ENSP00000424095:R275H;ENSP00000282753:R275H;ENSP00000347437:R275H;ENSP00000425599:R275H	ENSP00000282753:R275H	R	+	2	0	GRM1	146522300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.432000	0.73400	2.495000	0.84180	0.655000	0.94253	CGC		0.577	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		4	81	0	0	0	1	0	4	81				
ADCY5	111	broad.mit.edu	37	3	123038541	123038541	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:123038541C>T	ENST00000462833.1	-	10	3448	c.2236G>A	c.(2236-2238)Gag>Aag	p.E746K	ADCY5_ENST00000309879.5_Missense_Mutation_p.E396K|ADCY5_ENST00000491190.1_Missense_Mutation_p.E379K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	746					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGTCAGGCTCCCTGAAGGTC	0.582																																						ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2236-2238)Gag>Aag		adenylate cyclase 5							82.0	71.0	75.0					3																	123038541		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123038541C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2236G>A	3.37:g.123038541C>T	ENSP00000419361:p.Glu746Lys					ADCY5_ENST00000309879.5_Missense_Mutation_p.E396K|ADCY5_ENST00000491190.1_Missense_Mutation_p.E379K	p.E746K	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	10	3448	-			746					B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.2236G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006206	0.54361	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.28632	0.0709	N	0.19112	0.55	0.58432	D	0.999993	B;B	0.15473	0.013;0.001	B;B	0.17098	0.017;0.01	T	0.05484	-1.0882	10	0.34782	T	0.22	.	12.1517	0.54053	0.0:0.9223:0.0:0.0777	.	746;379	O95622;B3KWA8	ADCY5_HUMAN;.	K	746;379;396;305	ENSP00000419361:E746K;ENSP00000418537:E379K;ENSP00000308685:E396K;ENSP00000420082:E305K	ENSP00000308685:E396K	E	-	1	0	ADCY5	124521231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.650000	0.46665	2.686000	0.91538	0.637000	0.83480	GAG		0.582	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		9	25	0	0	0	1	0	9	25				
AXIN1	8312	broad.mit.edu	37	16	354374	354374	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr16:354374C>T	ENST00000262320.3	-	5	1555	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H	AXIN1_ENST00000354866.3_Missense_Mutation_p.R395H|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	395	Interaction with GSK3B. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.R395P(1)|p.R395fs*18(1)|p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				AGCCTCCAGGCGGTGGATGAG	0.701																																						ENST00000262320.3																			3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	p.R395P(1)|p.R395fs*18(1)|p.?(1)	liver(3)	biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221						c.(1183-1185)cGc>cAc		axin 1							29.0	29.0	29.0					16																	354374		2202	4294	6496	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:354374C>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1184G>A	16.37:g.354374C>T	ENSP00000262320:p.Arg395His					AXIN1_ENST00000354866.3_Missense_Mutation_p.R395H|AXIN1_ENST00000481769.1_5'UTR	p.R395H	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN			5	1555	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	395			Interaction with GSK3B (By similarity).		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1184G>A	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478075	0.96291	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	D;D	0.83673	-1.75;-1.75	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.91666	0.7366	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92734	0.6202	10	0.87932	D	0	-3.6783	18.617	0.91306	0.0:1.0:0.0:0.0	.	395;395	O15169-2;O15169	.;AXIN1_HUMAN	H	395	ENSP00000262320:R395H;ENSP00000346935:R395H	ENSP00000262320:R395H	R	-	2	0	AXIN1	294375	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.625000	0.83145	2.418000	0.82041	0.563000	0.77884	CGC		0.701	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			13	60	0	0	0	1	0	13	60				
LCA5	167691	broad.mit.edu	37	6	80223150	80223150	+	Missense_Mutation	SNP	C	C	T	rs569666879		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:80223150C>T	ENST00000392959.1	-	4	1110	c.499G>A	c.(499-501)Gag>Aag	p.E167K	LCA5_ENST00000467898.3_Missense_Mutation_p.E167K|LCA5_ENST00000369846.4_Missense_Mutation_p.E167K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	167					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTGTAATCTCATTGTTATGA	0.353													C|||	1	0.000199681	0.0	0.0	5008	,	,		20399	0.0		0.001	False		,,,				2504	0.0					ENST00000392959.1																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32						c.(499-501)Gag>Aag		Leber congenital amaurosis 5							147.0	139.0	142.0					6																	80223150		2203	4300	6503	SO:0001583	missense	167691				protein transport	cilium axoneme|microtubule basal body	protein binding	g.chr6:80223150C>T		CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.499G>A	6.37:g.80223150C>T	ENSP00000376686:p.Glu167Lys					LCA5_ENST00000369846.4_Missense_Mutation_p.E167K|LCA5_ENST00000467898.2_Missense_Mutation_p.E167K	p.E167K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0657)	4	1110	-		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)	167					E1P542|Q9BWX7	Missense_Mutation	SNP	ENST00000392959.1	37	c.499G>A	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067267	0.93898	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	D;D	0.85773	-2.03;-2.03	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.92021	0.7472	M	0.79011	2.435	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	D	0.91711	0.5381	10	0.72032	D	0.01	-17.4529	19.6475	0.95784	0.0:1.0:0.0:0.0	.	167;167	B4DRL2;Q86VQ0	.;LCA5_HUMAN	K	167	ENSP00000358861:E167K;ENSP00000376686:E167K	ENSP00000358861:E167K	E	-	1	0	LCA5	80279869	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.195000	0.72088	2.885000	0.99019	0.655000	0.94253	GAG		0.353	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1	NM_181714		10	49	0	0	0	1	0	10	49				
ITGB4	3691	broad.mit.edu	37	17	73748648	73748648	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:73748648C>T	ENST00000200181.3	+	32	4285	c.4098C>T	c.(4096-4098)tcC>tcT	p.S1366S	ITGB4_ENST00000339591.3_Silent_p.S1366S|ITGB4_ENST00000449880.2_Silent_p.S1366S|ITGB4_ENST00000579662.1_Silent_p.S1366S|ITGB4_ENST00000450894.3_Silent_p.S1366S|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1366					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGCGTCTCCGATGACACTG	0.612																																						ENST00000200181.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43						c.(4096-4098)tcC>tcT		integrin, beta 4							70.0	70.0	70.0					17																	73748648		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73748648C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4098C>T	17.37:g.73748648C>T						ITGB4_ENST00000579662.1_Silent_p.S1366S|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000450894.3_Silent_p.S1366S|ITGB4_ENST00000449880.2_Silent_p.S1366S|ITGB4_ENST00000339591.3_Silent_p.S1366S	p.S1366S	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		32	4285	+	all_cancers(13;1.5e-07)		1366					A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.4098C>T	CCDS11727.1																																																																																				0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			25	106	0	0	0	1	0	25	106				
XKR4	114786	broad.mit.edu	37	8	56015684	56015684	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:56015684G>A	ENST00000327381.6	+	1	736	c.636G>A	c.(634-636)ccG>ccA	p.P212P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	212						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTTCCACGCCGCAAAGGCAAG	0.682																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(634-636)ccG>ccA		XK, Kell blood group complex subunit-related family, member 4							32.0	34.0	33.0					8																	56015684		2203	4298	6501	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56015684G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.636G>A	8.37:g.56015684G>A							p.P212P	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	736	+			212					Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.636G>A	CCDS34893.1																																																																																				0.682	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		4	71	0	0	0	1	0	4	71				
ARNT2	9915	broad.mit.edu	37	15	80884001	80884001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr15:80884001G>T	ENST00000303329.4	+	18	2176	c.2011G>T	c.(2011-2013)Gag>Tag	p.E671*	ARNT2_ENST00000533983.1_Nonsense_Mutation_p.E660*|ARNT2_ENST00000527771.1_Nonsense_Mutation_p.E660*	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	671					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCAGAGCGGTGAGCAGCACTC	0.602																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1978-1980)Gag>Tag		aryl-hydrocarbon receptor nuclear translocator 2							118.0	112.0	114.0					15																	80884001		2203	4300	6503	SO:0001587	stop_gained	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80884001G>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.2011G>T	15.37:g.80884001G>T	ENSP00000307479:p.Glu671*					ARNT2_ENST00000303329.4_Nonsense_Mutation_p.E671*|ARNT2_ENST00000527771.1_Nonsense_Mutation_p.E660*	p.E660*			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		19	2317	+			671					B4DIS7|O15024|Q8IYC2	Nonsense_Mutation	SNP	ENST00000303329.4	37	c.1978G>T	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	G	41	8.544765	0.98857	.	.	ENSG00000172379	ENST00000360062;ENST00000303329	.	.	.	5.2	5.2	0.72013	.	0.169892	0.51477	D	0.000095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.7216	0.91697	0.0:0.0:1.0:0.0	.	.	.	.	X	660;671	.	ENSP00000307479:E671X	E	+	1	0	ARNT2	78671056	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.771000	0.91751	2.414000	0.81942	0.462000	0.41574	GAG		0.602	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			29	104	1	0	2.46105e-21	1	2.84388e-21	29	104				
CROCCP2	84809	broad.mit.edu	37	1	16959826	16959826	+	lincRNA	SNP	C	C	T	rs12023653	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:16959826C>T	ENST00000412962.1	-	0	31							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCTCCCCTCCCAGCTGCAGCG	0.642													.|||	277	0.0553115	0.0772	0.085	5008	,	,		56896	0.0179		0.0726	False		,,,				2504	0.0256					ENST00000412962.1																			0																																																			84809							g.chr1:16959826C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959826C>T														0	31	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.642	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	15	0	0	0	1	0	3	15				
MED24	9862	broad.mit.edu	37	17	38189606	38189606	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:38189606G>A	ENST00000394128.2	-	7	744	c.663C>T	c.(661-663)ctC>ctT	p.L221L	MED24_ENST00000394127.2_Silent_p.L208L|MED24_ENST00000356271.3_Silent_p.L208L|MED24_ENST00000501516.3_Silent_p.L240L|MED24_ENST00000394126.1_Silent_p.L246L|MED24_ENST00000479829.1_5'Flank	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	221					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACCTCCTAATGAGGGTGCCAC	0.612																																						ENST00000394126.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(736-738)ctC>ctT		mediator complex subunit 24							39.0	37.0	38.0					17																	38189606		2203	4300	6503	SO:0001819	synonymous_variant	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38189606G>A	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.663C>T	17.37:g.38189606G>A						MED24_ENST00000394127.2_Silent_p.L208L|MED24_ENST00000501516.3_Silent_p.L240L|MED24_ENST00000356271.3_Silent_p.L208L|MED24_ENST00000394128.2_Silent_p.L221L	p.L246L			O75448	MED24_HUMAN			6	1156	-	Colorectal(19;0.000442)		221					A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	ENST00000394128.2	37	c.738C>T	CCDS11359.1																																																																																				0.612	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815		7	20	0	0	0	1	0	7	20				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														440452							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	20	0	0	0	1	0	3	20				
FCRL4	83417	broad.mit.edu	37	1	157557303	157557303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:157557303C>A	ENST00000271532.1	-	5	745	c.610G>T	c.(610-612)Gag>Tag	p.E204*	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	204	Ig-like C2-type 3.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GAATTCCCCTCTGTAGGCTGA	0.478																																						ENST00000271532.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(610-612)Gag>Tag		Fc receptor-like 4							126.0	129.0	128.0					1																	157557303		2203	4300	6503	SO:0001587	stop_gained	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157557303C>A	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.610G>T	1.37:g.157557303C>A	ENSP00000271532:p.Glu204*					FCRL4_ENST00000448509.2_5'UTR	p.E204*	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			5	745	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	204			Ig-like C2-type 3.		Q96PJ3|Q96RE0	Nonsense_Mutation	SNP	ENST00000271532.1	37	c.610G>T	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373249	0.95923	.	.	ENSG00000163518	ENST00000271532	.	.	.	4.71	4.71	0.59529	.	0.000000	0.42682	D	0.000679	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	13.3345	0.60509	0.0:1.0:0.0:0.0	.	.	.	.	X	204	.	ENSP00000271532:E204X	E	-	1	0	FCRL4	155823927	0.244000	0.23889	0.116000	0.21606	0.579000	0.36224	1.436000	0.34980	2.574000	0.86865	0.467000	0.42956	GAG		0.478	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		25	111	1	0	7.92952e-12	1	9.02924e-12	25	111				
FJX1	24147	broad.mit.edu	37	11	35640755	35640755	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:35640755G>C	ENST00000317811.4	+	1	1021	c.571G>C	c.(571-573)Gag>Cag	p.E191Q		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	191					retina layer formation (GO:0010842)	extracellular space (GO:0005615)		p.E191K(2)		lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GATTCAGGGCGAGGCCCTGTC	0.731																																					Melanoma(161;10 2587 27165 47356)	ENST00000317811.4																			2	Substitution - Missense(2)	p.E191K(2)	urinary_tract(2)	lung(1)|urinary_tract(1)	2						c.(571-573)Gag>Cag		four jointed box 1 (Drosophila)							7.0	9.0	9.0					11																	35640755		1714	3700	5414	SO:0001583	missense	24147					extracellular space		g.chr11:35640755G>C	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.571G>C	11.37:g.35640755G>C	ENSP00000400223:p.Glu191Gln						p.E191Q	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN			1	1021	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	191					B2RCA9|Q9UGK6	Missense_Mutation	SNP	ENST00000317811.4	37	c.571G>C	CCDS44570.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266195	0.80358	.	.	ENSG00000179431	ENST00000317811	T	0.51817	0.69	4.23	4.23	0.50019	.	.	.	.	.	T	0.67618	0.2912	M	0.75085	2.285	0.46725	D	0.999177	D	0.89917	1.0	D	0.85130	0.997	T	0.72944	-0.4138	9	0.87932	D	0	-8.0281	14.1062	0.65091	0.0:0.0:1.0:0.0	.	191	Q86VR8	FJX1_HUMAN	Q	191	ENSP00000400223:E191Q	ENSP00000400223:E191Q	E	+	1	0	FJX1	35597331	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.529000	0.90602	1.893000	0.54813	0.462000	0.41574	GAG		0.731	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		3	22	0	0	0	1	0	3	22				
PCDH8	5100	broad.mit.edu	37	13	53420641	53420641	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr13:53420641C>T	ENST00000377942.3	-	1	2134	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E	PCDH8_ENST00000338862.4_Missense_Mutation_p.G644E	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	644	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCCGTTGGCTCCCTCGTCTGC	0.706																																					GBM(36;25 841 9273 49207)	ENST00000377942.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36						c.(1930-1932)gGa>gAa		protocadherin 8							11.0	13.0	12.0					13																	53420641		2174	4256	6430	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420641C>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1931G>A	13.37:g.53420641C>T	ENSP00000367177:p.Gly644Glu					PCDH8_ENST00000338862.4_Missense_Mutation_p.G644E	p.G644E	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	2134	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	644			Cadherin 6.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.1931G>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329089	0.60743	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.27104	1.69;1.69	4.08	4.08	0.47627	Cadherin (4);Cadherin-like (1);	0.000000	0.43919	D	0.000514	T	0.60805	0.2297	M	0.92268	3.29	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73933	-0.3826	10	0.87932	D	0	.	16.463	0.84070	0.0:1.0:0.0:0.0	.	644;644	O95206-2;O95206	.;PCDH8_HUMAN	E	644;644;170;487	ENSP00000367177:G644E;ENSP00000341350:G644E	ENSP00000341350:G644E	G	-	2	0	PCDH8	52318642	1.000000	0.71417	0.803000	0.32268	0.695000	0.40330	5.683000	0.68189	2.105000	0.64084	0.561000	0.74099	GGA		0.706	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		7	35	0	0	0	1	0	7	35				
KCNH8	131096	broad.mit.edu	37	3	19295145	19295145	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:19295145G>C	ENST00000328405.2	+	2	342		c.e2-1			NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8						potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTTTTCTATAGATAGCAACTT	0.428																																					NSCLC(124;1625 1765 8018 24930 42026)	ENST00000328405.2																			0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.e2-1		potassium voltage-gated channel, subfamily H (eag-related), member 8							135.0	137.0	136.0					3																	19295145		2203	4300	6503	SO:0001630	splice_region_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19295145G>C	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.77-1G>C	3.37:g.19295145G>C								NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN			2	342	+								B7Z2I7|Q59GQ6	Splice_Site	SNP	ENST00000328405.2	37		CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.589710	0.86851	.	.	ENSG00000183960	ENST00000328405	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8942	0.96945	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KCNH8	19270149	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.763000	0.98947	2.692000	0.91855	0.655000	0.94253	.		0.428	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	Intron	25	77	0	0	0	1	0	25	77				
SCEL	8796	broad.mit.edu	37	13	78214811	78214811	+	Splice_Site	SNP	G	G	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr13:78214811G>T	ENST00000349847.3	+	31	1923	c.1839G>T	c.(1837-1839)agG>agT	p.R613S	SCEL_ENST00000377246.3_Splice_Site_p.R593S|SCEL_ENST00000535157.1_Splice_Site_p.R571S	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	613					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATTTCTATAGGTCTGTCATTG	0.318																																						ENST00000535157.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40						c.e29-1		sciellin							78.0	77.0	77.0					13																	78214811		2203	4298	6501	SO:0001630	splice_region_variant	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78214811G>T	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1839-1G>T	13.37:g.78214811G>T						SCEL_ENST00000349847.3_Splice_Site_p.R613_splice|SCEL_ENST00000377246.3_Splice_Site_p.R593_splice	p.R571_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	29	1883	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	613					B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Splice_Site	SNP	ENST00000349847.3	37	c.1712_splice	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307981	0.81247	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.80994	-1.44;-1.44;-1.44	6.17	5.33	0.75918	.	0.000000	0.64402	D	0.000004	D	0.87212	0.6121	L	0.60455	1.87	0.50313	D	0.999864	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.996;0.996;0.997	D	0.86811	0.1998	9	.	.	.	.	14.2603	0.66080	0.0718:0.0:0.9282:0.0	.	571;593;613	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	S	571;593;613	ENSP00000437895:R571S;ENSP00000366454:R593S;ENSP00000302579:R613S	.	R	+	3	2	SCEL	77112812	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.539000	0.67199	1.620000	0.50308	0.655000	0.94253	AGG		0.318	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777	Missense_Mutation	4	23	1	0	0.150653	1	0.150653	4	23				
PRSS48	345062	broad.mit.edu	37	4	152203467	152203467	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr4:152203467C>T	ENST00000455694.2	+	3	385	c.383C>T	c.(382-384)tCt>tTt	p.S128F	PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	128	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						ACCTTCACTTCTGCCATCCTG	0.483																																						ENST00000455694.2																			0				kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						c.(382-384)tCt>tTt		protease, serine, 48							225.0	214.0	217.0					4																	152203467		2065	4204	6269	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203467C>T	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.383C>T	4.37:g.152203467C>T	ENSP00000401328:p.Ser128Phe					PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron	p.S128F	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN			3	385	+			128			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.383C>T	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416853	0.25552	.	.	ENSG00000189099	ENST00000455694	T	0.32515	1.45	3.76	3.76	0.43208	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.493623	0.15289	N	0.270248	T	0.43144	0.1234	L	0.59912	1.85	0.39107	D	0.961404	D	0.61080	0.989	P	0.58077	0.832	T	0.40553	-0.9557	10	0.59425	D	0.04	.	8.8935	0.35449	0.2224:0.7776:0.0:0.0	.	128	Q7RTY5	PRS48_HUMAN	F	128	ENSP00000401328:S128F	ENSP00000401328:S128F	S	+	2	0	PRSS48	152422917	0.000000	0.05858	0.005000	0.12908	0.017000	0.09413	0.498000	0.22530	2.386000	0.81285	0.591000	0.81541	TCT		0.483	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		20	89	0	0	0	1	0	20	89				
RIMS2	9699	broad.mit.edu	37	8	105026752	105026752	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:105026752G>A	ENST00000436393.2	+	17	2704	c.2463G>A	c.(2461-2463)ggG>ggA	p.G821G	RIMS2_ENST00000507740.1_Silent_p.G895G|RIMS2_ENST00000262231.10_Silent_p.G920G|RIMS2_ENST00000406091.3_Silent_p.G1081G			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1143	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CTCGTACTGGGTCTGTCCAGA	0.423										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2683-2685)ggG>ggA		regulating synaptic membrane exocytosis 2							73.0	73.0	73.0					8																	105026752		1896	4108	6004	SO:0001819	synonymous_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105026752G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2463G>A	8.37:g.105026752G>A		HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Silent_p.G920G|RIMS2_ENST00000436393.2_Silent_p.G821G|RIMS2_ENST00000406091.3_Silent_p.G1081G	p.G895G	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		17	2921	+			1143			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37	c.2685G>A																																																																																					0.423	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		13	31	0	0	0	1	0	13	31				
DAGLA	747	broad.mit.edu	37	11	61511051	61511051	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:61511051G>A	ENST00000257215.5	+	20	2335	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	740					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCGGAGGGGCGGCTGCTGTCG	0.687																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2218-2220)cGg>cAg		diacylglycerol lipase, alpha							48.0	61.0	56.0					11																	61511051		2184	4222	6406	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61511051G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2219G>A	11.37:g.61511051G>A	ENSP00000257215:p.Arg740Gln						p.R740Q	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	20	2335	+			740					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2219G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874971	0.33162	.	.	ENSG00000134780	ENST00000257215	T	0.23147	1.92	3.1	1.19	0.21007	.	0.128577	0.30840	N	0.008771	T	0.12518	0.0304	N	0.14661	0.345	0.34725	D	0.729101	B	0.06786	0.001	B	0.04013	0.001	T	0.09751	-1.0660	10	0.39692	T	0.17	-10.7692	6.8016	0.23754	0.4011:0.0:0.5989:0.0	.	740	Q9Y4D2	DGLA_HUMAN	Q	740	ENSP00000257215:R740Q	ENSP00000257215:R740Q	R	+	2	0	DAGLA	61267627	0.999000	0.42202	0.988000	0.46212	0.774000	0.43823	2.057000	0.41365	0.350000	0.24002	0.484000	0.47621	CGG		0.687	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		38	200	0	0	0	1	0	38	200				
BEND3	57673	broad.mit.edu	37	6	107390514	107390514	+	Silent	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:107390514G>A	ENST00000369042.1	-	4	2071	c.1881C>T	c.(1879-1881)aaC>aaT	p.N627N	BEND3_ENST00000429433.2_Silent_p.N627N			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	627	BEN 3. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGACGCGGTCGTTTTTGGCGC	0.647																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1879-1881)aaC>aaT		BEN domain containing 3																																				SO:0001819	synonymous_variant	57673							g.chr6:107390514G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1881C>T	6.37:g.107390514G>A						BEND3_ENST00000369042.1_Silent_p.N627N	p.N627N	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2530	-			627			BEN 3.		A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1881C>T	CCDS34507.1																																																																																				0.647	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		12	49	0	0	0	1	0	12	49				
TAF1	6872	broad.mit.edu	37	X	70598236	70598236	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chrX:70598236G>A	ENST00000373790.4	+	7	1133	c.1082G>A	c.(1081-1083)gGg>gAg	p.G361E	TAF1_ENST00000423759.1_Missense_Mutation_p.G382E|TAF1_ENST00000449580.1_Missense_Mutation_p.G361E|TAF1_ENST00000276072.3_Missense_Mutation_p.G382E	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	361	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGGCAGTGGGTTTGACTAT	0.443																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1081-1083)gGg>gAg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							186.0	154.0	165.0					X																	70598236		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70598236G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1082G>A	X.37:g.70598236G>A	ENSP00000362895:p.Gly361Glu					TAF1_ENST00000423759.1_Missense_Mutation_p.G382E|TAF1_ENST00000373790.4_Missense_Mutation_p.G361E|TAF1_ENST00000276072.3_Missense_Mutation_p.G382E	p.G361E			P21675	TAF1_HUMAN			7	1133	+	Renal(35;0.156)	all_lung(315;0.000321)	361			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1082G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	14.79	2.639738	0.47153	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	5.27	5.27	0.74061	.	0.232387	0.44902	D	0.000413	T	0.45377	0.1339	L	0.56280	1.765	0.46901	D	0.999247	B;B	0.25105	0.072;0.118	B;B	0.29176	0.06;0.099	T	0.35649	-0.9780	10	0.32370	T	0.25	.	13.8554	0.63524	0.0:0.1487:0.8513:0.0	.	361;382	P21675;P21675-2	TAF1_HUMAN;.	E	361;361;382;382	ENSP00000362895:G361E;ENSP00000389000:G361E;ENSP00000406549:G382E;ENSP00000276072:G382E	ENSP00000276072:G382E	G	+	2	0	TAF1	70514961	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.948000	0.63590	2.324000	0.78689	0.513000	0.50165	GGG		0.443	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		7	184	0	0	0	1	0	7	184				
ALDH1B1	219	broad.mit.edu	37	9	38396346	38396346	+	Missense_Mutation	SNP	G	G	A	rs199527495		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:38396346G>A	ENST00000377698.3	+	2	754	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	201					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)	p.A201T(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CCCGGCACTCGCCACAGGCAA	0.597																																						ENST00000377698.3																			1	Substitution - Missense(1)	p.A201T(1)	lung(1)	NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(601-603)Gcc>Acc		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)	G	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	77.0	76.0	77.0		601	4.6	0.2	9		77	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ALDH1B1	NM_000692.4	58	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	201/518	38396346	4,13002	2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396346G>A	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.601G>A	9.37:g.38396346G>A	ENSP00000366927:p.Ala201Thr						p.A201T	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	754	+			201					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.601G>A	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017270	0.54576	6.81E-4	1.16E-4	ENSG00000137124	ENST00000377698	T	0.81078	-1.45	5.51	4.61	0.57282	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000010	D	0.91338	0.7268	H	0.95114	3.625	0.54753	D	0.999983	D	0.71674	0.998	P	0.62740	0.906	D	0.93032	0.6449	10	0.72032	D	0.01	.	12.306	0.54902	0.0827:0.0:0.9173:0.0	.	201	P30837	AL1B1_HUMAN	T	201	ENSP00000366927:A201T	ENSP00000366927:A201T	A	+	1	0	ALDH1B1	38386346	1.000000	0.71417	0.182000	0.23118	0.407000	0.30961	5.253000	0.65452	1.329000	0.45376	0.655000	0.94253	GCC		0.597	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			35	133	0	0	0	1	0	35	133				
ZZZ3	26009	broad.mit.edu	37	1	78098862	78098862	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr1:78098862G>C	ENST00000370801.3	-	5	653	c.178C>G	c.(178-180)Cag>Gag	p.Q60E	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'Flank	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	60					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTTCCTTTCTGAATTGGCACA	0.403																																						ENST00000370801.3																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						c.(178-180)Cag>Gag		zinc finger, ZZ-type containing 3							168.0	177.0	174.0					1																	78098862		2203	4300	6503	SO:0001583	missense	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78098862G>C	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.178C>G	1.37:g.78098862G>C	ENSP00000359837:p.Gln60Glu					ZZZ3_ENST00000370798.1_Intron	p.Q60E	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN			5	653	-			60					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	c.178C>G	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	9.852	1.194061	0.22037	.	.	ENSG00000036549	ENST00000370801	.	.	.	4.63	4.63	0.57726	.	0.491346	0.22135	N	0.064138	T	0.46034	0.1372	L	0.56769	1.78	0.80722	D	1	B;B;B	0.22146	0.065;0.016;0.027	B;B;B	0.22601	0.04;0.011;0.025	T	0.43589	-0.9382	8	.	.	.	.	16.5576	0.84490	0.0:0.0:1.0:0.0	.	60;60;60	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	E	60	.	.	Q	-	1	0	ZZZ3	77871450	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.978000	0.70501	2.476000	0.83614	0.650000	0.86243	CAG		0.403	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534		27	112	0	0	0	1	0	27	112				
UBR5	51366	broad.mit.edu	37	8	103354904	103354904	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr8:103354904G>C	ENST00000520539.1	-	9	1501	c.895C>G	c.(895-897)Ctt>Gtt	p.L299V	UBR5_ENST00000220959.4_Missense_Mutation_p.L299V|UBR5_ENST00000521922.1_Intron	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	299					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTAAGGGAAGAAGGAGAACT	0.443																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(895-897)Ctt>Gtt		ubiquitin protein ligase E3 component n-recognin 5							61.0	54.0	56.0					8																	103354904		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103354904G>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.895C>G	8.37:g.103354904G>C	ENSP00000429084:p.Leu299Val					UBR5_ENST00000220959.4_Missense_Mutation_p.L299V|UBR5_ENST00000521922.1_Intron	p.L299V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		9	1501	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		299					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.895C>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777477	0.49786	.	.	ENSG00000104517	ENST00000520539;ENST00000220959	T;T	0.42131	0.98;0.98	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	T	0.46210	0.1381	N	0.14661	0.345	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.41124	-0.9526	10	0.29301	T	0.29	.	18.9293	0.92558	0.0:0.0:1.0:0.0	.	299	O95071	UBR5_HUMAN	V	299	ENSP00000429084:L299V;ENSP00000220959:L299V	ENSP00000220959:L299V	L	-	1	0	UBR5	103424080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.809000	0.99208	2.535000	0.85469	0.650000	0.86243	CTT		0.443	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		4	52	0	0	0	1	0	4	52				
OR10G4	390264	broad.mit.edu	37	11	123886728	123886728	+	Silent	SNP	C	C	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:123886728C>A	ENST00000320891.4	+	1	447	c.447C>A	c.(445-447)ctC>ctA	p.L149L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCACTTGGCTCAGTGGCTCTC	0.562																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(445-447)ctC>ctA		olfactory receptor, family 10, subfamily G, member 4							136.0	137.0	137.0					11																	123886728		2201	4299	6500	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886728C>A	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.447C>A	11.37:g.123886728C>A							p.L149L	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	447	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	149					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.447C>A	CCDS31702.1																																																																																				0.562	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		59	198	1	0	3.31162e-33	1	3.8843e-33	59	198				
HIST1H1C	3006	broad.mit.edu	37	6	26056263	26056263	+	Missense_Mutation	SNP	C	C	A	rs139623473		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr6:26056263C>A	ENST00000343677.2	-	1	436	c.394G>T	c.(394-396)Gtt>Ttt	p.V132F		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	132					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.V132L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCTGCCCCAACTGGCTTCTTA	0.587																																						ENST00000343677.2																			1	Substitution - Missense(1)	p.V132L(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(394-396)Gtt>Ttt		histone cluster 1, H1c							59.0	70.0	66.0					6																	26056263		2200	4297	6497	SO:0001583	missense	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056263C>A	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.394G>T	6.37:g.26056263C>A	ENSP00000339566:p.Val132Phe						p.V132F	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	436	-			132					A8K4I2	Missense_Mutation	SNP	ENST00000343677.2	37	c.394G>T	CCDS4577.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876645	0.33162	.	.	ENSG00000187837	ENST00000343677	T	0.14640	2.49	5.54	4.65	0.58169	.	0.132739	0.48767	D	0.000171	T	0.03651	0.0104	N	0.08118	0	0.36929	D	0.891794	B	0.21147	0.052	B	0.24394	0.053	T	0.24764	-1.0151	10	0.56958	D	0.05	-5.2312	14.9995	0.71462	0.1435:0.8565:0.0:0.0	.	132	P16403	H12_HUMAN	F	132	ENSP00000339566:V132F	ENSP00000339566:V132F	V	-	1	0	HIST1H1C	26164242	0.998000	0.40836	0.016000	0.15963	0.009000	0.06853	3.858000	0.55979	1.421000	0.47157	0.655000	0.94253	GTT		0.587	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		21	117	1	0	3.83957e-06	1	4.24803e-06	21	117				
PRKG1	5592	broad.mit.edu	37	10	53893658	53893658	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr10:53893658G>C	ENST00000401604.2	+	8	1143	c.949G>C	c.(949-951)Gac>Cac	p.D317H	PRKG1_ENST00000373980.4_Missense_Mutation_p.D332H|PRKG1_ENST00000373985.1_Missense_Mutation_p.D305H|PRKG1_ENST00000373975.2_Missense_Mutation_p.D35H			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	317	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCTTGTGATTGACAGAGAGTA	0.333																																						ENST00000373980.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53						c.(994-996)Gac>Cac		protein kinase, cGMP-dependent, type I							152.0	150.0	151.0					10																	53893658		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:53893658G>C		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.949G>C	10.37:g.53893658G>C	ENSP00000384200:p.Asp317His					PRKG1_ENST00000373975.2_Missense_Mutation_p.D35H|PRKG1_ENST00000401604.2_Missense_Mutation_p.D317H|PRKG1_ENST00000373985.1_Missense_Mutation_p.D305H	p.D332H	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	8	1411	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	317					A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.994G>C	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364275	0.82463	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193	T;T;T	0.34667	1.35;1.35;1.35	5.55	5.55	0.83447	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	T	0.68760	0.3036	M	0.90542	3.125	0.80722	D	1	P;D;D	0.89917	0.618;1.0;1.0	P;D;D	0.87578	0.621;0.997;0.998	T	0.75539	-0.3282	10	0.87932	D	0	-19.221	18.2859	0.90114	0.0:0.0:1.0:0.0	.	35;332;317	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	H	317;305;332;35	ENSP00000384200:D317H;ENSP00000363097:D305H;ENSP00000363092:D332H	ENSP00000327642:D35H	D	+	1	0	PRKG1	53563664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.595000	0.82710	2.618000	0.88619	0.655000	0.94253	GAC		0.333	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	22	0	0	0	1	0	7	22				
CYP8B1	1582	broad.mit.edu	37	3	42916886	42916886	+	Silent	SNP	C	C	T			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:42916886C>T	ENST00000316161.4	-	1	747	c.423G>A	c.(421-423)gaG>gaA	p.E141E	CYP8B1_ENST00000437102.1_Silent_p.E141E|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	141					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCAGCATGGTCTCATTAAGAT	0.512																																						ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(421-423)gaG>gaA		cytochrome P450, family 8, subfamily B, polypeptide 1							104.0	95.0	98.0					3																	42916886		2203	4300	6503	SO:0001819	synonymous_variant	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916886C>T	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.423G>A	3.37:g.42916886C>T						CYP8B1_ENST00000437102.1_Silent_p.E141E|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	p.E141E	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	747	-			141					B2RCY3|O75958|Q6NWT2|Q6NWT3	Silent	SNP	ENST00000316161.4	37	c.423G>A	CCDS2707.1																																																																																				0.512	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		13	58	0	0	0	1	0	13	58				
SPINK5	11005	broad.mit.edu	37	5	147470777	147470777	+	Silent	SNP	C	C	A	rs199757347		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr5:147470777C>A	ENST00000256084.7	+	8	694	c.652C>A	c.(652-654)Cga>Aga	p.R218R	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000398454.1_Silent_p.R218R|SPINK5_ENST00000359874.3_Silent_p.R218R	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	218					anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAATTCGACGAAATGCTGA	0.333																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64	GRCh37	CM013063	SPINK5	M		c.(652-654)Cga>Aga		serine peptidase inhibitor, Kazal type 5							94.0	89.0	90.0					5																	147470777		1857	4103	5960	SO:0001819	synonymous_variant	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147470777C>A	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.652C>A	5.37:g.147470777C>A						SPINK5_ENST00000256084.7_Silent_p.R218R|SPINK5_ENST00000398454.1_Silent_p.R218R|SPINK5_ENST00000476608.1_3'UTR	p.R218R	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	725	+			218					A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Silent	SNP	ENST00000256084.7	37	c.652C>A	CCDS43382.1																																																																																				0.333	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		7	22	1	0	0.00448238	1	0.00466168	7	22				
CCDC36	339834	broad.mit.edu	37	3	49282283	49282283	+	Intron	SNP	G	G	A			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:49282283G>A	ENST00000438782.1	+	6	768				CCDC36_ENST00000366429.2_Silent_p.R200R|CCDC36_ENST00000296449.5_Intron|CCDC36_ENST00000452691.2_Intron|CCDC36_ENST00000451634.2_Silent_p.R190R			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36											endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		CAGATGAGAGGATGGGTATAT	0.507																																						ENST00000366429.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14						c.(598-600)agG>agA		coiled-coil domain containing 36																																				SO:0001627	intron_variant	339834							g.chr3:49282283G>A	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.532+117G>A	3.37:g.49282283G>A						CCDC36_ENST00000451634.2_Silent_p.R190R|CCDC36_ENST00000438782.1_Intron|CCDC36_ENST00000296449.5_Intron|CCDC36_ENST00000452691.2_Intron	p.R200R			Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	5	679	+			0					C9JJL0|Q05DG9|Q96LP7	Silent	SNP	ENST00000438782.1	37	c.600G>A	CCDS33755.2																																																																																				0.507	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		3	7	0	0	0	1	0	3	7				
FAM86DP	692099	broad.mit.edu	37	3	75472209	75472209	+	RNA	SNP	C	C	T	rs11537690	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr3:75472209C>T	ENST00000459803.1	-	0	932					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		GATCCCAGCCCGGCCTGGAAA	0.572													.|||	661	0.131989	0.2337	0.1599	5008	,	,		18360	0.0188		0.164	False		,,,				2504	0.0583					ENST00000459803.1																			0																																																			692099							g.chr3:75472209C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75472209C>T								NR_024241.1						0	932	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.572	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	33	0	0	0	1	0	3	33				
CNTNAP3	79937	broad.mit.edu	37	9	39144302	39144307	+	In_Frame_Del	DEL	TGGGAA	TGGGAA	-			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr9:39144302_39144307delTGGGAA	ENST00000297668.6	-	11	1759_1764	c.1686_1691delTTCCCA	c.(1684-1692)tgttcccag>tgg	p.562_564CSQ>W	CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000358144.2_In_Frame_Del_p.474_476CSQ>W|CNTNAP3_ENST00000377659.1_In_Frame_Del_p.562_564CSQ>W|CNTNAP3_ENST00000377656.2_In_Frame_Del_p.562_564CSQ>W	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	562	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCCCACGACTGGGAACACTCGCCCC	0.505																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1684-1692)tgg>tg		contactin associated protein-like 3																																				SO:0001651	inframe_deletion	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39144302_39144307delTGGGAA	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1686_1691delTTCCCA	9.37:g.39144302_39144307delTGGGAA	ENSP00000297668:p.Cys562_Gln564delinsTrp					CNTNAP3_ENST00000377659.1_In_Frame_Del_p.CSQ562del|CNTNAP3_ENST00000377656.2_In_Frame_Del_p.CSQ562del|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000358144.2_In_Frame_Del_p.CSQ474del	p.CSQ562del	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	11	1759_1764	-			562			EGF-like 1.		B1AMA0|Q9C0E9	In_Frame_Del	DEL	ENST00000297668.6	37	c.1686_1691delTTCCCA	CCDS6616.1																																																																																				0.505	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		7	9						7	9	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59210716	59210717	+	Frame_Shift_Ins	INS	-	-	CTCC			TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr11:59210716_59210717insCTCC	ENST00000302030.2	+	1	100_101	c.75_76insCTCC	c.(76-78)ctcfs	p.-26fs		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACCATCCAGAACTCCAGGCCCT	0.53																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(73-78)gatccafs		olfactory receptor, family 5, subfamily A, member 1																																				SO:0001589	frameshift_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210716_59210717insCTCC	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.76_79dupCTCC	11.37:g.59210717_59210720dupCTCC	ENSP00000303096:p.Leu26fs						p.P26fs	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	100_101	+			26					B9EH58|Q6IFF2|Q96RB1	Frame_Shift_Ins	INS	ENST00000302030.2	37	c.75_76insCTCC	CCDS31561.1																																																																																				0.530	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		23	105						23	105	---	---	---	---
C17orf97	400566	broad.mit.edu	37	17	263586	263645	+	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	rs71369083|rs76926791|rs71369084|rs9908743|rs180817296|rs532458474|rs571617320|rs71145728|rs75457484|rs372740125|rs184547508	byFrequency	TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENST00000360127.6	+	2	968_1027	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	c.(952-1011)gaccccgaggccctcaagggcttccaccccgaccccaaggccctcaagggcttccaccccdel	p.DPEALKGFHPDPKALKGFHP318del	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	348	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)|p.P327P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG	0.681																																						ENST00000360127.6																			5	Substitution - coding silent(5)	p.G334G(4)|p.P327P(1)	lung(2)|kidney(2)|prostate(1)	breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(952-1011)del		chromosome 17 open reading frame 97				1725,2215		384,957,629						-4.1	0.0		dbSNP_130	25	2103,5705		403,1297,2204	no	coding	C17orf97	NM_001013672.4		787,2254,2833	A1A1,A1R,RR		26.9339,43.7817,32.5843				3828,7920				SO:0001651	inframe_deletion	400566							g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	17.37:g.263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENSP00000353245:p.Asp318_Pro337del					AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.DPEALKGFHPDPKALKGFHP318del	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	968_1027	+			348			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	In_Frame_Del	DEL	ENST00000360127.6	37	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	CCDS32519.2																																																																																				0.681	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		47	80						47	80	---	---	---	---
SPAG4	6676	broad.mit.edu	37	20	34207177	34207210	+	Frame_Shift_Del	DEL	TCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	TCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	-	rs370722278		TCGA-CQ-7064-01A-11D-2394-08	TCGA-CQ-7064-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4d2233a-53ff-4d8e-81cf-0d8bece72438	15ec64a6-902a-4847-aca6-2a9d6c96be0d	g.chr20:34207177_34207210delTCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	ENST00000374273.3	+	9	966_999	c.854_887delTCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	c.(853-888)ttctggaatcgcttcagcttctggaactacgcacggfs	p.FWNRFSFWNYAR285fs		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	285	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.W286*(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ACTGCCTACTTCTGGAATCGCTTCAGCTTCTGGAACTACGCACGGCCGCCCACG	0.598																																						ENST00000374273.3																			1	Substitution - Nonsense(1)	p.W286*(1)	lung(1)	NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21						c.(853-888)tgfs		sperm associated antigen 4																																				SO:0001589	frameshift_variant	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34207177_34207210delTCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.854_887delTCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	20.37:g.34207177_34207210delTCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	ENSP00000363391:p.Phe285fs						p.FWNRFSFWNYAR285fs	NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		9	966_999	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		285			SUN.		O43648	Frame_Shift_Del	DEL	ENST00000374273.3	37	c.854_887delTCTGGAATCGCTTCAGCTTCTGGAACTACGCACG	CCDS13259.1																																																																																				0.598	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		7	168						7	168	---	---	---	---
