#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
HMGXB4	10042	broad.mit.edu	37	22	35660938	35660938	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:35660938A>G	ENST00000216106.5	+	5	685	c.557A>G	c.(556-558)gAg>gGg	p.E186G	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E77G	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	186					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCTTCGGGAGCCTGATGGT	0.463																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(556-558)gAg>gGg		HMG box domain containing 4							107.0	113.0	111.0					22																	35660938		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35660938A>G	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.557A>G	22.37:g.35660938A>G	ENSP00000216106:p.Glu186Gly					HMGXB4_ENST00000444518.2_Missense_Mutation_p.E77G	p.E186G	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			5	685	+			186					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.557A>G	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078893	0.76528	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	5.88	5.88	0.94601	.	0.047096	0.85682	D	0.000000	T	0.67961	0.2949	L	0.32530	0.975	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.71265	-0.4644	10	0.87932	D	0	-19.2378	16.2948	0.82765	1.0:0.0:0.0:0.0	.	186	Q9UGU5	HMGX4_HUMAN	G	77;77;77;186	ENSP00000401658:E77G;ENSP00000398302:E77G;ENSP00000415500:E77G;ENSP00000216106:E186G	ENSP00000216106:E186G	E	+	2	0	HMGXB4	33990938	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	7.776000	0.85560	2.253000	0.74438	0.455000	0.32223	GAG		0.463	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		36	174	0	0	0	1	0	36	174				
PTPN21	11099	broad.mit.edu	37	14	88936012	88936012	+	Silent	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:88936012G>T	ENST00000556564.1	-	17	3350	c.3066C>A	c.(3064-3066)acC>acA	p.T1022T	PTPN21_ENST00000328736.3_Silent_p.T1022T	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	1022	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACCTTCCATAGGTGACAGTGT	0.517																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3064-3066)acC>acA		protein tyrosine phosphatase, non-receptor type 21							152.0	122.0	132.0					14																	88936012		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88936012G>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.3066C>A	14.37:g.88936012G>T						PTPN21_ENST00000328736.3_Silent_p.T1022T	p.T1022T	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			17	3350	-			1022			Tyrosine-protein phosphatase.			Silent	SNP	ENST00000556564.1	37	c.3066C>A	CCDS9884.1																																																																																				0.517	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			9	55	1	0	1.76689e-08	1	1.93952e-08	9	55				
ADCY8	114	broad.mit.edu	37	8	132002670	132002670	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:132002670C>T	ENST00000286355.5	-	2	3171	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	ADCY8_ENST00000377928.3_Missense_Mutation_p.R360K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	360					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAGGCGCAGCCTGGCCTCCAC	0.502										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(1078-1080)aGg>aAg		adenylate cyclase 8 (brain)							113.0	121.0	118.0					8																	132002670		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132002670C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1079G>A	8.37:g.132002670C>T	ENSP00000286355:p.Arg360Lys	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R360K	p.R360K	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		2	3171	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		360						Missense_Mutation	SNP	ENST00000286355.5	37	c.1079G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737700	0.96865	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.80738	-1.41;-1.41	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	L	0.35487	1.065	0.44899	D	0.997914	P;D	0.63880	0.956;0.993	P;D	0.70016	0.899;0.967	T	0.80768	-0.1235	10	0.25751	T	0.34	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	360;360	E7EVL1;P40145	.;ADCY8_HUMAN	K	360	ENSP00000286355:R360K;ENSP00000367161:R360K	ENSP00000286355:R360K	R	-	2	0	ADCY8	132071852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.744000	0.85034	2.857000	0.98124	0.650000	0.86243	AGG		0.502	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			33	165	0	0	0	1	0	33	165				
COL26A1	136227	broad.mit.edu	37	7	101187376	101187376	+	RNA	SNP	T	T	A	rs202164116	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:101187376T>A	ENST00000397927.3	+	0	915				COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000313669.7_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											CGGGGCCGCCTGGTAAGAAAA	0.652													T|||	2	0.000399361	0.0015	0.0	5008	,	,		14983	0.0		0.0	False		,,,				2504	0.0					ENST00000313669.7																			0													collagen, type XXVI, alpha 1		T		8,3672		0,8,1832	12.0	16.0	15.0		696	-8.1	0.7	7		15	0,8164		0,0,4082	yes	coding-synonymous-near-splice	EMID2	NM_133457.2		0,8,5914	AA,AT,TT		0.0,0.2174,0.0675		232/440	101187376	8,11836	1840	4082	5922			136227							g.chr7:101187376T>A	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101187376T>A						COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA		NM_133457.2	NP_597714.2					0	894	+								Q32M90	RNA	SNP	ENST00000397927.3	37																																																																																						0.652	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000315898.2	NM_133457		3	9	0	0	0	1	0	3	9				
DSP	1832	broad.mit.edu	37	6	7583519	7583519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7583519C>G	ENST00000379802.3	+	24	6365	c.6024C>G	c.(6022-6024)atC>atG	p.I2008M	DSP_ENST00000418664.2_Missense_Mutation_p.I1409M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2008	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTTCTGAAATCCAGCCATTCC	0.453																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(6022-6024)atC>atG		desmoplakin							73.0	79.0	77.0					6																	7583519		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583519C>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6024C>G	6.37:g.7583519C>G	ENSP00000369129:p.Ile2008Met					DSP_ENST00000418664.2_Missense_Mutation_p.I1409M	p.I2008M	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6365	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2008			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6024C>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830895	0.32329	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.70045	-0.45;-0.45	4.88	3.07	0.35406	.	0.000000	0.64402	D	0.000017	T	0.37625	0.1010	L	0.40543	1.245	0.22001	N	0.999424	P;P	0.44877	0.712;0.845	B;B	0.44278	0.178;0.445	T	0.30592	-0.9973	10	0.51188	T	0.08	.	2.7903	0.05386	0.2108:0.489:0.0:0.3002	.	1456;2008	Q4LE79;P15924	.;DESP_HUMAN	M	2008;1409	ENSP00000369129:I2008M;ENSP00000396591:I1409M	ENSP00000369129:I2008M	I	+	3	3	DSP	7528518	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.857000	0.27831	1.170000	0.42753	-0.136000	0.14681	ATC		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		14	96	0	0	0	1	0	14	96				
NTSR1	4923	broad.mit.edu	37	20	61391421	61391421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:61391421C>G	ENST00000370501.3	+	4	1430	c.1059C>G	c.(1057-1059)ttC>ttG	p.F353L	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	353					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ACGCACTCTTCTACGTCAGCT	0.577																																					GBM(37;400 780 6403 19663 35669)	ENST00000370501.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27						c.(1057-1059)ttC>ttG		neurotensin receptor 1 (high affinity)							253.0	224.0	234.0					20																	61391421		2203	4300	6503	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61391421C>G		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.1059C>G	20.37:g.61391421C>G	ENSP00000359532:p.Phe353Leu					NTSR1_ENST00000482259.1_3'UTR	p.F353L	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		4	1430	+	Breast(26;3.65e-08)		353					Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.1059C>G	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880378	0.72294	.	.	ENSG00000101188	ENST00000370501	T	0.35789	1.29	4.98	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	M	0.76727	2.345	0.44402	D	0.997315	D	0.76494	0.999	D	0.77004	0.989	T	0.59910	-0.7365	10	0.41790	T	0.15	-38.7496	14.1859	0.65605	0.0:0.9258:0.0:0.0742	.	353	P30989	NTR1_HUMAN	L	353	ENSP00000359532:F353L	ENSP00000359532:F353L	F	+	3	2	NTSR1	60861866	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	1.842000	0.39250	1.062000	0.40625	-0.205000	0.12727	TTC		0.577	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			15	232	0	0	0	1	0	15	232				
SLC6A19	340024	broad.mit.edu	37	5	1212490	1212490	+	Missense_Mutation	SNP	C	C	T	rs199734007		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:1212490C>T	ENST00000304460.10	+	4	610	c.554C>T	c.(553-555)aCg>aTg	p.T185M		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	185					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCTCCACGTCCATCAGC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16113	0.0		0.001	False		,,,				2504	0.0					ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(553-555)aCg>aTg		solute carrier family 6 (neutral amino acid transporter), member 19		C	MET/THR	0,4406		0,0,2203	159.0	137.0	144.0		554	4.3	1.0	5		144	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC6A19	NM_001003841.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	185/635	1212490	1,13005	2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1212490C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.554C>T	5.37:g.1212490C>T	ENSP00000305302:p.Thr185Met						p.T185M	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		4	610	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		185					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.554C>T	CCDS34130.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.2	4.253666	0.80135	0.0	1.16E-4	ENSG00000174358	ENST00000304460	T	0.74842	-0.88	5.2	4.32	0.51571	.	0.146979	0.64402	D	0.000010	D	0.87144	0.6104	M	0.88450	2.955	0.45822	D	0.998698	D	0.69078	0.997	D	0.65140	0.932	D	0.89961	0.4086	10	0.87932	D	0	.	15.3722	0.74573	0.1408:0.8592:0.0:0.0	.	185	Q695T7	S6A19_HUMAN	M	185	ENSP00000305302:T185M	ENSP00000305302:T185M	T	+	2	0	SLC6A19	1265490	0.698000	0.27777	0.998000	0.56505	0.972000	0.66771	1.391000	0.34475	1.290000	0.44636	0.491000	0.48974	ACG		0.617	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		18	122	0	0	0	1	0	18	122				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	9	83	0	0	0	1	0	9	83				
IL12RB2	3595	broad.mit.edu	37	1	67787482	67787482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:67787482C>G	ENST00000262345.1	+	3	914	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V	IL12RB2_ENST00000371000.1_Missense_Mutation_p.L92V|IL12RB2_ENST00000544434.1_Missense_Mutation_p.L92V|IL12RB2_ENST00000541374.1_Missense_Mutation_p.L92V	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	92					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AGTCACAGGTCTTCCCCTTGG	0.423																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(274-276)Ctt>Gtt		interleukin 12 receptor, beta 2							179.0	169.0	172.0					1																	67787482		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67787482C>G	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.274C>G	1.37:g.67787482C>G	ENSP00000262345:p.Leu92Val					IL12RB2_ENST00000371000.1_Missense_Mutation_p.L92V|IL12RB2_ENST00000541374.1_Missense_Mutation_p.L92V|IL12RB2_ENST00000544434.1_Missense_Mutation_p.L92V	p.L92V	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			3	914	+			92					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.274C>G	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254675	0.59212	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.81	5.81	0.92471	Immunoglobulin C2-set-like, ligand-binding (1);	0.244698	0.41823	D	0.000806	T	0.71736	0.3375	L	0.36672	1.1	0.23198	N	0.998132	P;D;D;D	0.89917	0.843;0.999;0.981;1.0	P;D;P;D	0.87578	0.591;0.962;0.814;0.998	T	0.61964	-0.6954	10	0.07030	T	0.85	-20.9143	15.5703	0.76330	0.0:1.0:0.0:0.0	.	92;92;92;92	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	V	92	ENSP00000262345:L92V;ENSP00000360039:L92V;ENSP00000445276:L92V;ENSP00000442443:L92V	ENSP00000262345:L92V	L	+	1	0	IL12RB2	67560070	0.859000	0.29813	0.305000	0.25099	0.005000	0.04900	3.750000	0.55157	2.739000	0.93911	0.650000	0.86243	CTT		0.423	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		14	190	0	0	0	1	0	14	190				
ROCK2	9475	broad.mit.edu	37	2	11341183	11341183	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:11341183G>C	ENST00000315872.6	-	23	3258	c.2810C>G	c.(2809-2811)tCt>tGt	p.S937C	ROCK2_ENST00000401753.1_Missense_Mutation_p.S694C	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	937					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTCCAAATCAGAATATTGTTC	0.413																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(2809-2811)tCt>tGt		Rho-associated, coiled-coil containing protein kinase 2							170.0	153.0	159.0					2																	11341183		1850	4092	5942	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11341183G>C	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.2810C>G	2.37:g.11341183G>C	ENSP00000317985:p.Ser937Cys					ROCK2_ENST00000401753.1_Missense_Mutation_p.S694C	p.S937C	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	23	3258	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		937					Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.2810C>G	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943169	0.73672	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.62788	-0.0;1.05	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.75317	0.3833	M	0.64997	1.995	0.54753	D	0.999988	D	0.69078	0.997	P	0.58928	0.848	T	0.76291	-0.3013	10	0.59425	D	0.04	.	19.6418	0.95760	0.0:0.0:1.0:0.0	.	937	O75116	ROCK2_HUMAN	C	937;694;295	ENSP00000317985:S937C;ENSP00000385509:S694C	ENSP00000317985:S937C	S	-	2	0	ROCK2	11258634	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	4.623000	0.61247	2.653000	0.90120	0.467000	0.42956	TCT		0.413	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			16	143	0	0	0	1	0	16	143				
ZBTB22	9278	broad.mit.edu	37	6	33284113	33284113	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:33284113G>T	ENST00000431845.2	-	2	732	c.581C>A	c.(580-582)tCc>tAc	p.S194Y	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.S194Y|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	194					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)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGCCCGGCTGGAGGCATGGGA	0.622																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(580-582)tCc>tAc		zinc finger and BTB domain containing 22							32.0	36.0	35.0					6																	33284113		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284113G>T	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.581C>A	6.37:g.33284113G>T	ENSP00000407545:p.Ser194Tyr					ZBTB22_ENST00000418724.1_Missense_Mutation_p.S194Y	p.S194Y	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	732	-			194					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.581C>A	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183769	0.57800	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.07021	3.23;3.23	4.1	4.1	0.47936	.	0.000000	0.33290	N	0.005075	T	0.09686	0.0238	L	0.38175	1.15	0.43480	D	0.995704	D	0.65815	0.995	P	0.59221	0.854	T	0.04767	-1.0928	10	0.62326	D	0.03	.	13.8729	0.63631	0.0:0.0:1.0:0.0	.	194	O15209	ZBT22_HUMAN	Y	194	ENSP00000404403:S194Y;ENSP00000407545:S194Y	ENSP00000404403:S194Y	S	-	2	0	ZBTB22	33392091	.	.	1.000000	0.80357	0.939000	0.58152	.	.	2.108000	0.64289	0.551000	0.68910	TCC		0.622	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			5	47	1	0	0.000602214	1	0.000621746	5	47				
PHIP	55023	broad.mit.edu	37	6	79665371	79665371	+	Missense_Mutation	SNP	G	G	A	rs373292877		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:79665371G>A	ENST00000275034.4	-	33	3978	c.3811C>T	c.(3811-3813)Ctt>Ttt	p.L1271F	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1271					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GAATTATAAAGTGGAATTATG	0.239																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(3811-3813)Ctt>Ttt		pleckstrin homology domain interacting protein							29.0	32.0	31.0					6																	79665371		2167	4260	6427	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79665371G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3811C>T	6.37:g.79665371G>A	ENSP00000275034:p.Leu1271Phe					PHIP_ENST00000479165.1_5'UTR	p.L1271F	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	33	3978	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1271					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.3811C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462046	0.43736	.	.	ENSG00000146247	ENST00000275034	T	0.49139	0.79	5.19	4.26	0.50523	.	0.101427	0.40728	N	0.001035	T	0.43255	0.1239	L	0.55743	1.74	0.58432	D	0.999995	D;D	0.69078	0.997;0.997	D;D	0.63597	0.916;0.916	T	0.51679	-0.8675	9	.	.	.	-10.9844	2.9562	0.05877	0.1021:0.2378:0.4979:0.1623	.	1271;1271	A7J992;Q8WWQ0	.;PHIP_HUMAN	F	1271	ENSP00000275034:L1271F	.	L	-	1	0	PHIP	79722090	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.725000	0.54970	2.578000	0.87016	0.455000	0.32223	CTT		0.239	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			4	38	0	0	0	1	0	4	38				
NUP43	348995	broad.mit.edu	37	6	150067675	150067675	+	5'UTR	SNP	A	A	G	rs10872646	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:150067675A>G	ENST00000340413.2	-	0	33				NUP43_ENST00000463048.3_Intron|PCMT1_ENST00000464889.1_5'Flank|NUP43_ENST00000367404.4_5'Flank|PCMT1_ENST00000367378.1_5'Flank|PCMT1_ENST00000367384.2_5'Flank|NUP43_ENST00000460354.2_5'Flank|NUP43_ENST00000367403.3_Missense_Mutation_p.V47A	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa						carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CAAGCACAGTACGCGCCTCTC	0.552											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2715	0.542133	0.5386	0.6369	5008	,	,		19794	0.8234		0.3579	False		,,,				2504	0.3793					ENST00000367403.3																			0				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(139-141)gTa>gCa		nucleoporin 43kDa		G		2197,2209	583.4+/-385.8	548,1101,554	45.0	50.0	48.0			2.8	0.1	6	dbSNP_120	48	3122,5478	652.2+/-400.9	556,2010,1734	no	utr-5	NUP43	NM_198887.1		1104,3111,2288	GG,GA,AA		36.3023,49.8638,40.8965			150067675	5319,7687	2203	4300	6503	SO:0001623	5_prime_UTR_variant	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150067675A>G	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.-44T>C	6.37:g.150067675A>G			OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1729	NUP43_ENST00000340413.2_5'UTR|NUP43_ENST00000463048.3_Intron	p.V47A			Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	1	139	-		Ovarian(120;0.0164)	0					B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.140T>C	CCDS5218.1	1214	0.5558608058608059	279	0.5670731707317073	216	0.5966850828729282	457	0.798951048951049	262	0.34564643799472294	G	3.355	-0.131675	0.06753	0.498638	0.363023	ENSG00000120253	ENST00000367403	.	.	.	4.66	2.84	0.33178	.	0.513210	0.16435	N	0.214552	T	0.26085	0.0636	.	.	.	0.58432	P	2.9999999999752447E-6	.	.	.	.	.	.	T	0.09773	-1.0659	5	0.37606	T	0.19	.	6.1042	0.20063	0.1688:0.1537:0.6775:0.0	rs10872646;rs59692899;rs10872646	.	.	.	A	47	.	ENSP00000356373:V47A	V	-	2	0	NUP43	150109368	0.088000	0.21588	0.070000	0.20053	0.002000	0.02628	0.393000	0.20817	0.288000	0.22398	-0.119000	0.15052	GTA		0.552	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		4	76	0	0	0	1	0	4	76				
STAM2	10254	broad.mit.edu	37	2	152989924	152989924	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:152989924T>C	ENST00000263904.4	-	9	1223	c.874A>G	c.(874-876)Ata>Gta	p.I292V		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	292					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACCTCATCTATATAAACAGGC	0.318																																						ENST00000263904.4																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16						c.(874-876)Ata>Gta		signal transducing adaptor molecule (SH3 domain and ITAM motif) 2							105.0	115.0	112.0					2																	152989924		2203	4299	6502	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:152989924T>C	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.874A>G	2.37:g.152989924T>C	ENSP00000263904:p.Ile292Val						p.I292V	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	9	1223	-			292					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.874A>G	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489976	0.84962	.	.	ENSG00000115145	ENST00000263904	T	0.20200	2.09	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;0.988	D;P	0.87578	0.998;0.835	T	0.38845	-0.9642	10	0.24483	T	0.36	-25.0382	16.1199	0.81342	0.0:0.0:0.0:1.0	.	292;292	O75886-2;O75886	.;STAM2_HUMAN	V	292	ENSP00000263904:I292V	ENSP00000263904:I292V	I	-	1	0	STAM2	152698170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.194000	0.70268	0.533000	0.62120	ATA		0.318	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2	NM_005843		24	106	0	0	0	1	0	24	106				
RSPH4A	345895	broad.mit.edu	37	6	116938343	116938343	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:116938343C>G	ENST00000229554.5	+	1	694	c.557C>G	c.(556-558)tCa>tGa	p.S186*	RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.S186*|RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.S186*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	186					axoneme assembly (GO:0035082)|cilium movement (GO:0003341)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|radial spoke (GO:0001534)				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGGAAGACTCAAACAGTGAC	0.512									Kartagener syndrome																													ENST00000229554.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(556-558)tCa>tGa		radial spoke head 4 homolog A (Chlamydomonas)							118.0	124.0	122.0					6																	116938343		2203	4300	6503	SO:0001587	stop_gained	345895	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		g.chr6:116938343C>G		CCDS34521.1, CCDS55051.1	6q22.1	2012-05-03	2009-02-17	2009-02-17	ENSG00000111834	ENSG00000111834			21558	protein-coding gene	gene with protein product		612647	"""radial spokehead-like 3"""	RSHL3		19200523	Standard	NM_001010892		Approved	dJ412I7.1, FLJ37974, RSPH6B, CILD11	uc003pxe.2	Q5TD94	OTTHUMG00000015444	ENST00000229554.5:c.557C>G	6.37:g.116938343C>G	ENSP00000229554:p.Ser186*					RSPH4A_ENST00000368580.4_Nonsense_Mutation_p.S186*|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.S186*	p.S186*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN			1	694	+			186					B4DSI1|Q3KP24|Q5TD95	Nonsense_Mutation	SNP	ENST00000229554.5	37	c.557C>G	CCDS34521.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708964	0.68615	.	.	ENSG00000111834	ENST00000368581;ENST00000229554;ENST00000368580	.	.	.	5.27	3.42	0.39159	.	0.855444	0.09904	N	0.740659	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-3.0693	11.6685	0.51387	0.0:0.6541:0.3459:0.0	.	.	.	.	X	186	.	ENSP00000229554:S186X	S	+	2	0	RSPH4A	117045036	0.007000	0.16637	0.002000	0.10522	0.156000	0.22039	1.285000	0.33261	0.742000	0.32697	0.467000	0.42956	TCA		0.512	RSPH4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041960.1	NM_001010892		20	180	0	0	0	1	0	20	180				
BOC	91653	broad.mit.edu	37	3	112987215	112987215	+	Missense_Mutation	SNP	C	C	T	rs139434929		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:112987215C>T	ENST00000495514.1	+	5	1150	c.446C>T	c.(445-447)gCc>gTc	p.A149V	BOC_ENST00000273395.4_Missense_Mutation_p.A149V|BOC_ENST00000355385.3_Missense_Mutation_p.A149V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	149	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCAGTCATTGCCTGCCACCTG	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21378	0.0		0.0	False		,,,				2504	0.0					ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(445-447)gCc>gTc		BOC cell adhesion associated, oncogene regulated		C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	134.0	108.0	117.0		446	5.7	1.0	3	dbSNP_134	117	0,8600		0,0,4300	no	missense	BOC	NM_033254.2	64	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	149/1115	112987215	2,13004	2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112987215C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.446C>T	3.37:g.112987215C>T	ENSP00000418663:p.Ala149Val					BOC_ENST00000273395.4_Missense_Mutation_p.A149V|BOC_ENST00000355385.3_Missense_Mutation_p.A149V	p.A149V			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		5	1150	+			149			Ig-like C2-type 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.446C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316454	0.81469	4.54E-4	0.0	ENSG00000144857	ENST00000495514;ENST00000498710;ENST00000273395;ENST00000355385	T;T;T	0.11930	2.73;2.73;2.73	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.058210	0.64402	D	0.000001	T	0.14657	0.0354	N	0.08118	0	0.53688	D	0.999978	P;P	0.40000	0.698;0.556	P;B	0.48552	0.581;0.298	T	0.21999	-1.0229	10	0.36615	T	0.2	.	19.8744	0.96864	0.0:1.0:0.0:0.0	.	149;149	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	V	149;46;149;149	ENSP00000418663:A149V;ENSP00000273395:A149V;ENSP00000347546:A149V	ENSP00000273395:A149V	A	+	2	0	BOC	114469905	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.765000	0.68834	2.696000	0.92011	0.585000	0.79938	GCC		0.572	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		3	15	0	0	0	1	0	3	15				
TRPV4	59341	broad.mit.edu	37	12	110232203	110232203	+	Silent	SNP	G	G	A	rs140533102		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:110232203G>A	ENST00000418703.2	-	7	1516	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	TRPV4_ENST00000537083.1_Silent_p.N414N|TRPV4_ENST00000536838.1_Silent_p.N440N|TRPV4_ENST00000346520.2_Silent_p.N414N|TRPV4_ENST00000544971.1_Silent_p.N367N|TRPV4_ENST00000541794.1_Silent_p.N427N|TRPV4_ENST00000392719.2_Silent_p.N427N|TRPV4_ENST00000261740.2_Silent_p.N474N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	474					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)	p.N474N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGAGACCACGTTGATGTAGA	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17143	0.0		0.0	False		,,,				2504	0.0					ENST00000418703.2																			1	Substitution - coding silent(1)	p.N474N(1)	stomach(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1420-1422)aaC>aaT		transient receptor potential cation channel, subfamily V, member 4		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	150.0	138.0	142.0		1281,1320,1101,1422,1242	-2.1	1.0	12	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TRPV4	NM_001177428.1,NM_001177431.1,NM_001177433.1,NM_021625.4,NM_147204.2	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	427/825,440/838,367/765,474/872,414/812	110232203	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110232203G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1422C>T	12.37:g.110232203G>A						TRPV4_ENST00000541794.1_Silent_p.N427N|TRPV4_ENST00000261740.2_Silent_p.N474N|TRPV4_ENST00000346520.2_Silent_p.N414N|TRPV4_ENST00000544971.1_Silent_p.N367N|TRPV4_ENST00000537083.1_Silent_p.N414N|TRPV4_ENST00000536838.1_Silent_p.N440N|TRPV4_ENST00000392719.2_Silent_p.N427N	p.N474N	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			7	1516	-			474					B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Silent	SNP	ENST00000418703.2	37	c.1422C>T	CCDS9134.1																																																																																				0.622	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		9	112	0	0	0	1	0	9	112				
CCNE1	898	broad.mit.edu	37	19	30312987	30312987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:30312987G>T	ENST00000262643.3	+	9	1069	c.790G>T	c.(790-792)Gaa>Taa	p.E264*	CCNE1_ENST00000444983.2_Nonsense_Mutation_p.E249*|CCNE1_ENST00000357943.5_Nonsense_Mutation_p.E221*	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	264					androgen receptor signaling pathway (GO:0030521)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|Wnt signaling pathway (GO:0016055)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|kinase activity (GO:0016301)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TGACTTACATGAAGTGCTACT	0.488			A		serous ovarian																																	ENST00000262643.3				Dom	yes		19	19q12	898	A	cyclin E1			E			serous ovarian		0				endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20						c.(790-792)Gaa>Taa		cyclin E1							148.0	140.0	143.0					19																	30312987		2203	4300	6503	SO:0001587	stop_gained	898				androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	g.chr19:30312987G>T	M73812	CCDS12419.1	19q12	2014-07-03			ENSG00000105173	ENSG00000105173			1589	protein-coding gene	gene with protein product	"""cyclin Es"", ""cyclin Et"""	123837		CCNE		1833066	Standard	NM_001238		Approved		uc002nsn.3	P24864	OTTHUMG00000177626	ENST00000262643.3:c.790G>T	19.37:g.30312987G>T	ENSP00000262643:p.Glu264*					CCNE1_ENST00000357943.5_Nonsense_Mutation_p.E221*|CCNE1_ENST00000444983.2_Nonsense_Mutation_p.E249*	p.E264*	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)		9	1069	+	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		264					A8K684|Q14091|Q8NFG1|Q92501|Q9UD21	Nonsense_Mutation	SNP	ENST00000262643.3	37	c.790G>T	CCDS12419.1	.	.	.	.	.	.	.	.	.	.	G	34	5.308098	0.95629	.	.	ENSG00000105173	ENST00000262643;ENST00000357943;ENST00000444983	.	.	.	6.08	6.08	0.98989	.	0.132237	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	15.1735	0.72894	0.0:0.1403:0.8597:0.0	.	.	.	.	X	264;221;249	.	ENSP00000262643:E264X	E	+	1	0	CCNE1	35004827	1.000000	0.71417	0.951000	0.38953	0.866000	0.49608	5.488000	0.66869	2.894000	0.99253	0.591000	0.81541	GAA		0.488	CCNE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438138.1	NM_001238		8	142	1	0	5.18039e-06	1	5.52768e-06	8	142				
VPS13B	157680	broad.mit.edu	37	8	100493856	100493856	+	Silent	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:100493856C>A	ENST00000358544.2	+	25	3807	c.3696C>A	c.(3694-3696)atC>atA	p.I1232I	VPS13B_ENST00000395996.1_Silent_p.I1232I|VPS13B_ENST00000357162.2_Silent_p.I1232I	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1232					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAACTGATATCATGAATAAGG	0.393																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3694-3696)atC>atA		vacuolar protein sorting 13 homolog B (yeast)							154.0	156.0	155.0					8																	100493856		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100493856C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3696C>A	8.37:g.100493856C>A						VPS13B_ENST00000358544.2_Silent_p.I1232I|VPS13B_ENST00000357162.2_Silent_p.I1232I	p.I1232I			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		25	3807	+	Breast(36;3.73e-07)		1232					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.3696C>A	CCDS6280.1																																																																																				0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		38	301	1	0	3.61848e-18	1	4.1385e-18	38	301				
PDCD4	27250	broad.mit.edu	37	10	112641196	112641196	+	Silent	SNP	C	C	T	rs538533354		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:112641196C>T	ENST00000280154.7	+	3	523	c.249C>T	c.(247-249)gaC>gaT	p.D83D	PDCD4_ENST00000393104.2_Silent_p.D72D	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	83					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTGGGAGTGACGCCCTTAGAA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17079	0.0		0.0	False		,,,				2504	0.0				Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(214-216)gaC>gaT		programmed cell death 4 (neoplastic transformation inhibitor)							86.0	92.0	90.0					10																	112641196		2203	4300	6503	SO:0001819	synonymous_variant	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112641196C>T	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.249C>T	10.37:g.112641196C>T						PDCD4_ENST00000280154.7_Silent_p.D83D	p.D72D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	4	576	+		Breast(234;0.0848)|Lung NSC(174;0.238)	83					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Silent	SNP	ENST00000280154.7	37	c.216C>T	CCDS7567.1																																																																																				0.502	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		22	88	0	0	0	1	0	22	88				
LRP12	29967	broad.mit.edu	37	8	105503225	105503225	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:105503225C>T	ENST00000276654.5	-	7	2364	c.2256G>A	c.(2254-2256)caG>caA	p.Q752Q	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Silent_p.Q733Q	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	752					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GACTCTGGTTCTGACTTAGGG	0.443																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(2254-2256)caG>caA		low density lipoprotein receptor-related protein 12							107.0	101.0	103.0					8																	105503225		2203	4300	6503	SO:0001819	synonymous_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105503225C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2256G>A	8.37:g.105503225C>T						LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Silent_p.Q733Q	p.Q752Q	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2364	-			752					A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	c.2256G>A	CCDS6303.1																																																																																				0.443	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		17	107	0	0	0	1	0	17	107				
USP9X	8239	broad.mit.edu	37	X	40990715	40990715	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chrX:40990715G>T	ENST00000324545.8	+	4	881	c.248G>T	c.(247-249)cGa>cTa	p.R83L	USP9X_ENST00000378308.2_Missense_Mutation_p.R83L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	83					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|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 protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTAGGCCTCGATGGGTGGTT	0.343																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(247-249)cGa>cTa		ubiquitin specific peptidase 9, X-linked							141.0	133.0	135.0					X																	40990715		2203	4300	6503	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40990715G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.248G>T	X.37:g.40990715G>T	ENSP00000316357:p.Arg83Leu					USP9X_ENST00000378308.2_Missense_Mutation_p.R83L	p.R83L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			4	881	+			83					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.248G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.877030	0.91664	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.03635	3.86;3.86	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.19967	0.0480	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.00542	-1.1680	10	0.72032	D	0.01	.	17.831	0.88683	0.0:0.0:1.0:0.0	.	83;83	Q93008-1;Q93008	.;USP9X_HUMAN	L	83	ENSP00000367558:R83L;ENSP00000316357:R83L	ENSP00000316357:R83L	R	+	2	0	USP9X	40875659	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.439000	0.97543	2.230000	0.72887	0.600000	0.82982	CGA		0.343	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		23	43	1	0	1.64293e-13	1	1.85681e-13	23	43				
TP53	7157	broad.mit.edu	37	17	7577106	7577106	+	Missense_Mutation	SNP	G	G	A	rs17849781		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:7577106G>A	ENST00000269305.4	-	8	1021	c.832C>T	c.(832-834)Cct>Tct	p.P278S	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.P278S	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	TCTCTCCCAGGACAGGCACAA	0.552		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"""		131	Substitution - Missense(105)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)	p.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(19)|breast(18)|skin(16)|large_intestine(14)|oesophagus(11)|lung(11)|central_nervous_system(7)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|ovary(4)|bone(4)|kidney(3)|endometrium(3)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|eye(1)|biliary_tract(1)|liver(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	CM011015|CM052927	TP53	M	rs17849781	c.(832-834)Cct>Tct	Other conserved DNA damage response genes	tumor protein p53							72.0	62.0	65.0					17																	7577106		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.chr17:7577106G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.832C>T	17.37:g.7577106G>A	ENSP00000269305:p.Pro278Ser	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_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S	p.P278S	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)	8	964	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	278		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.832C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	31	5.064500	0.93898	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99881	-7.47;-7.47;-7.47;-7.47;-7.47;-7.47	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.97110	0.988;1.0;0.987;0.975	D	0.96190	0.9137	10	0.87932	D	0	-13.7877	16.1198	0.81342	0.0:0.0:1.0:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	278;278;278;278;278;267;146	ENSP00000352610:P278S;ENSP00000269305:P278S;ENSP00000398846:P278S;ENSP00000391127:P278S;ENSP00000391478:P278S;ENSP00000425104:P146S	ENSP00000269305:P278S	P	-	1	0	TP53	7517831	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.573000	0.98181	2.667000	0.90743	0.462000	0.41574	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	31	0	0	0	1	0	13	31				
FKBP14	55033	broad.mit.edu	37	7	30065984	30065984	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:30065984C>G	ENST00000222803.5	-	1	316	c.141G>C	c.(139-141)ttG>ttC	p.L47F	AC007285.6_ENST00000419103.1_RNA|PLEKHA8_ENST00000258679.7_5'Flank|AC007285.6_ENST00000422239.1_RNA|PLEKHA8_ENST00000396259.1_5'Flank|PLEKHA8_ENST00000396257.2_5'Flank|PLEKHA8_ENST00000449726.1_5'Flank	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	47	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						GGACCAACATCAAATCCCCTC	0.428																																						ENST00000222803.5																			0				breast(1)|large_intestine(2)|lung(2)	5						c.(139-141)ttG>ttC		FK506 binding protein 14, 22 kDa							153.0	150.0	151.0					7																	30065984		2203	4300	6503	SO:0001583	missense	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30065984C>G	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.141G>C	7.37:g.30065984C>G	ENSP00000222803:p.Leu47Phe						p.L47F	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN			1	316	-			47			PPIase FKBP-type.			Missense_Mutation	SNP	ENST00000222803.5	37	c.141G>C	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245961	0.59103	.	.	ENSG00000106080	ENST00000222803	D	0.85861	-2.04	6.08	4.29	0.51040	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.452476	0.26510	N	0.023969	T	0.79528	0.4461	L	0.28458	0.855	0.48395	D	0.999643	P	0.50369	0.934	P	0.47528	0.549	T	0.73874	-0.3845	10	0.12103	T	0.63	-18.9507	13.2203	0.59883	0.0:0.9016:0.0:0.0984	.	47	Q9NWM8	FKB14_HUMAN	F	47	ENSP00000222803:L47F	ENSP00000222803:L47F	L	-	3	2	FKBP14	30032509	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.617000	0.54181	0.911000	0.36747	0.591000	0.81541	TTG		0.428	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		19	129	0	0	0	1	0	19	129				
TADA2A	6871	broad.mit.edu	37	17	35802715	35802715	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:35802715A>G	ENST00000394395.2	+	7	666	c.493A>G	c.(493-495)Atg>Gtg	p.M165V	TADA2A_ENST00000225396.6_Missense_Mutation_p.M165V|TADA2A_ENST00000417170.1_Missense_Mutation_p.M165V|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Missense_Mutation_p.M165V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	165					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTCTCGGGACATGGCCGGGTA	0.418																																						ENST00000394395.2																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						c.(493-495)Atg>Gtg		transcriptional adaptor 2A							80.0	74.0	76.0					17																	35802715		2203	4300	6503	SO:0001583	missense	6871				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding	g.chr17:35802715A>G	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.493A>G	17.37:g.35802715A>G	ENSP00000377918:p.Met165Val					TADA2A_ENST00000225396.6_Missense_Mutation_p.M165V|TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000417170.1_Missense_Mutation_p.M165V|TADA2A_ENST00000586023.1_Missense_Mutation_p.M165V	p.M165V	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN			7	666	+			165					A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	37	c.493A>G	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.426118	0.83667	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396;ENST00000417170	T;T;T	0.42513	0.97;0.97;0.97	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	N	0.17082	0.46	0.80722	D	1	P;P	0.48089	0.905;0.801	P;B	0.48454	0.578;0.36	T	0.08269	-1.0730	10	0.21540	T	0.41	-18.8072	15.5227	0.75877	1.0:0.0:0.0:0.0	.	165;165	O75478-2;O75478	.;TAD2A_HUMAN	V	165;64;165;165	ENSP00000377918:M165V;ENSP00000225396:M165V;ENSP00000406699:M165V	ENSP00000225396:M165V	M	+	1	0	TADA2A	32876828	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.122000	0.65172	0.460000	0.39030	ATG		0.418	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488		4	53	0	0	0	1	0	4	53				
SLC35B2	347734	broad.mit.edu	37	6	44222466	44222466	+	Missense_Mutation	SNP	C	C	G	rs150122797		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:44222466C>G	ENST00000393812.3	-	4	1419	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	SLC35B2_ENST00000537814.1_Missense_Mutation_p.E293Q|SLC35B2_ENST00000538577.1_Missense_Mutation_p.E333Q|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	426					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGGAGACTCAACAGGCACA	0.602																																						ENST00000393812.3																			0				breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15						c.(1276-1278)Gag>Cag		solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2							112.0	114.0	113.0					6																	44222466		2203	4300	6503	SO:0001583	missense	347734				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	g.chr6:44222466C>G	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.1276G>C	6.37:g.44222466C>G	ENSP00000377401:p.Glu426Gln					SLC35B2_ENST00000537814.1_Missense_Mutation_p.E293Q|SLC35B2_ENST00000538577.1_Missense_Mutation_p.E333Q|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_3'UTR	p.E426Q	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1419	-	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		426					B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Missense_Mutation	SNP	ENST00000393812.3	37	c.1276G>C	CCDS34462.1	.	.	.	.	.	.	.	.	.	.	c	11.35	1.613032	0.28712	.	.	ENSG00000157593	ENST00000393812;ENST00000537814;ENST00000538577;ENST00000341553	T;T;T	0.31769	1.48;1.51;1.49	4.58	4.58	0.56647	.	0.430302	0.25447	N	0.030611	T	0.08403	0.0209	N	0.08118	0	0.32120	N	0.588176	B;B	0.16396	0.017;0.01	B;B	0.16289	0.007;0.015	T	0.09228	-1.0684	10	0.28530	T	0.3	-13.3417	17.5442	0.87856	0.0:1.0:0.0:0.0	.	333;426	F5H7Y9;Q8TB61	.;S35B2_HUMAN	Q	426;293;333;386	ENSP00000377401:E426Q;ENSP00000440340:E293Q;ENSP00000443845:E333Q	ENSP00000342455:E386Q	E	-	1	0	SLC35B2	44330444	0.995000	0.38212	0.383000	0.26132	0.591000	0.36615	4.608000	0.61141	2.368000	0.80403	0.546000	0.68486	GAG		0.602	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			10	134	0	0	0	1	0	10	134				
OR4K13	390433	broad.mit.edu	37	14	20502196	20502196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:20502196G>A	ENST00000315693.2	-	1	723	c.722C>T	c.(721-723)tCa>tTa	p.S241L	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GATGTGAGCTGAGAGAGTGGA	0.458																																						ENST00000315693.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24						c.(721-723)tCa>tTa		olfactory receptor, family 4, subfamily K, member 13							131.0	116.0	121.0					14																	20502196		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502196G>A		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.722C>T	14.37:g.20502196G>A	ENSP00000319322:p.Ser241Leu						p.S241L	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	723	-	all_cancers(95;0.00108)		241					Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.722C>T	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	9.528	1.110186	0.20714	.	.	ENSG00000176253	ENST00000315693	T	0.35789	1.29	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32736	U	0.005705	T	0.42988	0.1227	M	0.75884	2.315	0.09310	N	1	P	0.41710	0.76	P	0.45449	0.481	T	0.39333	-0.9619	10	0.62326	D	0.03	.	9.7022	0.40194	0.0:0.0:0.7918:0.2082	.	241	Q8NH42	OR4KD_HUMAN	L	241	ENSP00000319322:S241L	ENSP00000319322:S241L	S	-	2	0	OR4K13	19572036	0.000000	0.05858	0.576000	0.28549	0.025000	0.11179	0.183000	0.16919	1.690000	0.51089	0.411000	0.27672	TCA		0.458	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			26	64	0	0	0	1	0	26	64				
OLR1	4973	broad.mit.edu	37	12	10319441	10319441	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:10319441T>A	ENST00000309539.3	-	3	354	c.294A>T	c.(292-294)tcA>tcT	p.S98S	OLR1_ENST00000543993.1_5'UTR|OLR1_ENST00000432556.2_Silent_p.S98S|OLR1_ENST00000545927.1_Silent_p.S98S|OLR1_ENST00000544577.1_Silent_p.S98S	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	98	Neck.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GTTCGTTTTCTGACTCCTGTG	0.453																																						ENST00000309539.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						c.(292-294)tcA>tcT		oxidized low density lipoprotein (lectin-like) receptor 1							199.0	188.0	192.0					12																	10319441		2203	4300	6503	SO:0001819	synonymous_variant	4973				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding	g.chr12:10319441T>A	D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"""C-type lectin domain containing"""	8133	protein-coding gene	gene with protein product		602601	"""oxidised low density lipoprotein (lectin-like) receptor 1"""			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.294A>T	12.37:g.10319441T>A						OLR1_ENST00000432556.2_Silent_p.S98S|OLR1_ENST00000544577.1_Silent_p.S98S|OLR1_ENST00000543993.1_5'UTR|OLR1_ENST00000545927.1_Silent_p.S98S	p.S98S	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN			3	354	-			98			Neck.		A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Silent	SNP	ENST00000309539.3	37	c.294A>T	CCDS8618.1																																																																																				0.453	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400091.1	NM_002543		10	157	0	0	0	1	0	10	157				
MYO15A	51168	broad.mit.edu	37	17	18066632	18066632	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:18066632C>T	ENST00000205890.5	+	59	10025	c.9687C>T	c.(9685-9687)tgC>tgT	p.C3229C	MYO15A_ENST00000451725.2_Silent_p.C121C|MYO15A_ENST00000418233.3_Silent_p.C493C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3229	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCAAAACATGCACTGTAAGTG	0.552																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(9685-9687)tgC>tgT		myosin XVA							89.0	88.0	89.0					17																	18066632		1963	4146	6109	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18066632C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9687C>T	17.37:g.18066632C>T						MYO15A_ENST00000451725.2_Silent_p.C121C|MYO15A_ENST00000418233.3_Silent_p.C493C	p.C3229C	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			59	10025	+	all_neural(463;0.228)		3229			FERM.|Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.9687C>T	CCDS42271.1																																																																																				0.552	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		9	88	0	0	0	1	0	9	88				
OR10G4	390264	broad.mit.edu	37	11	123887153	123887153	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:123887153A>G	ENST00000320891.4	+	1	872	c.872A>G	c.(871-873)aAc>aGc	p.N291S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	291						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)		ACCCTGAGAAACAAGGAGGTG	0.433																																						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.(871-873)aAc>aGc		olfactory receptor, family 10, subfamily G, member 4							83.0	78.0	79.0					11																	123887153		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887153A>G	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.872A>G	11.37:g.123887153A>G	ENSP00000325076:p.Asn291Ser						p.N291S	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	872	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	291					Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.872A>G	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	a	14.87	2.665480	0.47677	.	.	ENSG00000254737	ENST00000320891	T	0.39997	1.05	3.38	2.2	0.27929	.	0.000000	0.45126	D	0.000386	T	0.57975	0.2090	M	0.65498	2.005	0.27818	N	0.941883	D	0.76494	0.999	D	0.85130	0.997	T	0.51818	-0.8657	10	0.72032	D	0.01	.	9.5488	0.39297	0.8219:0.1781:0.0:0.0	.	291	Q8NGN3	O10G4_HUMAN	S	291	ENSP00000325076:N291S	ENSP00000325076:N291S	N	+	2	0	OR10G4	123392363	0.972000	0.33761	1.000000	0.80357	0.973000	0.67179	2.176000	0.42500	0.479000	0.27511	0.473000	0.43528	AAC		0.433	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		16	89	0	0	0	1	0	16	89				
SSR3	6747	broad.mit.edu	37	3	156272786	156272786	+	Silent	SNP	G	G	C	rs538795667		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:156272786G>C	ENST00000265044.2	-	1	187	c.93C>G	c.(91-93)ctC>ctG	p.L31L	SSR3_ENST00000476217.1_Silent_p.L31L|SSR3_ENST00000496050.1_5'Flank|SSR3_ENST00000467789.1_Silent_p.L31L|SSR3_ENST00000463503.1_5'Flank	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	31					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCCGAAGAAGAGCGCGGAGG	0.637																																						ENST00000265044.2																			0				endometrium(1)|prostate(2)	3						c.(91-93)ctC>ctG		signal sequence receptor, gamma (translocon-associated protein gamma)							64.0	55.0	58.0					3																	156272786		2203	4300	6503	SO:0001819	synonymous_variant	6747				cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding	g.chr3:156272786G>C	BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.93C>G	3.37:g.156272786G>C						SSR3_ENST00000476217.1_Silent_p.L31L|SSR3_ENST00000467789.1_Silent_p.L31L	p.L31L	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		1	187	-			31					B2R7D0|B4E2P2|D3DNK5|Q549M4	Silent	SNP	ENST00000265044.2	37	c.93C>G	CCDS3176.1																																																																																				0.637	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351521.1	NM_007107		3	30	0	0	0	1	0	3	30				
LRRC8A	56262	broad.mit.edu	37	9	131678540	131678540	+	Missense_Mutation	SNP	G	G	A	rs146661687	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr9:131678540G>A	ENST00000259324.5	+	4	2846	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	LRRC8A_ENST00000372599.3_Missense_Mutation_p.E775K|LRRC8A_ENST00000372600.4_Missense_Mutation_p.E775K|LRRC8A_ENST00000492784.1_3'UTR	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	775					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGAGCTGGGCGAGTGCCCACT	0.662																																						ENST00000259324.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						c.(2323-2325)Gag>Aag		leucine rich repeat containing 8 family, member A		G	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	41.0	41.0	41.0		2323,2323,2323	5.0	1.0	9	dbSNP_134	41	6,8594	5.0+/-18.6	0,6,4294	yes	missense,missense,missense	LRRC8A	NM_001127244.1,NM_001127245.1,NM_019594.3	56,56,56	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	benign,benign,benign	775/811,775/811,775/811	131678540	6,13000	2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131678540G>A	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.2323G>A	9.37:g.131678540G>A	ENSP00000259324:p.Glu775Lys					LRRC8A_ENST00000372600.4_Missense_Mutation_p.E775K|LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372599.3_Missense_Mutation_p.E775K	p.E775K	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN			4	2846	+			775					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.2323G>A	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408492	0.25378	0.0	6.98E-4	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.23754	1.89;1.89;1.89	5.03	5.03	0.67393	.	0.096319	0.64402	D	0.000001	T	0.12475	0.0303	N	0.14661	0.345	0.80722	D	1	P	0.35192	0.489	B	0.21151	0.033	T	0.09487	-1.0672	10	0.06891	T	0.86	.	17.3366	0.87283	0.0:0.0:1.0:0.0	.	775	Q8IWT6	LRC8A_HUMAN	K	775	ENSP00000361682:E775K;ENSP00000361680:E775K;ENSP00000259324:E775K	ENSP00000259324:E775K	E	+	1	0	LRRC8A	130718361	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	6.379000	0.73154	2.337000	0.79520	0.313000	0.20887	GAG		0.662	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		8	41	0	0	0	1	0	8	41				
SIPA1L1	26037	broad.mit.edu	37	14	72055487	72055487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:72055487C>T	ENST00000555818.1	+	2	1246	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R300C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R300C	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	300					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.R300C(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCGTAAATTGCGCAATGCCAA	0.443																																						ENST00000555818.1																			1	Substitution - Missense(1)	p.R300C(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(898-900)Cgc>Tgc		signal-induced proliferation-associated 1 like 1							65.0	70.0	68.0					14																	72055487		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055487C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.898C>T	14.37:g.72055487C>T	ENSP00000450832:p.Arg300Cys					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R300C|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R300C	p.R300C	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1246	+			300					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.898C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713481	0.68730	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.45276	0.9;0.9;0.9	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.68146	0.2969	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.95;0.996;0.99	T	0.68398	-0.5419	10	0.87932	D	0	-23.9997	20.6593	0.99626	0.0:1.0:0.0:0.0	.	300;300;300	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	C	300	ENSP00000370630:R300C;ENSP00000450832:R300C;ENSP00000351352:R300C	ENSP00000351352:R300C	R	+	1	0	SIPA1L1	71125240	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.656000	0.61483	2.885000	0.99019	0.655000	0.94253	CGC		0.443	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	99	0	0	0	1	0	8	99				
MROH7	374977	broad.mit.edu	37	1	55144993	55144993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:55144993G>C	ENST00000421030.2	+	12	2392	c.2107G>C	c.(2107-2109)Gaa>Caa	p.E703Q	MROH7_ENST00000409996.1_Missense_Mutation_p.E271Q|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.E703Q|MROH7_ENST00000395690.2_Missense_Mutation_p.E703Q|MROH7_ENST00000339553.5_Missense_Mutation_p.E703Q|MROH7_ENST00000454855.2_Missense_Mutation_p.E221Q|MROH7_ENST00000545244.1_Missense_Mutation_p.E271Q	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	703						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGCCGCCCTGGAAGGGCTGAA	0.592																																						ENST00000414150.2																			0											c.(2107-2109)Gaa>Caa		maestro heat-like repeat family member 7							68.0	75.0	73.0					1																	55144993		1926	4136	6062	SO:0001583	missense	374977							g.chr1:55144993G>C	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2107G>C	1.37:g.55144993G>C	ENSP00000396622:p.Glu703Gln					MROH7_ENST00000409996.1_Missense_Mutation_p.E271Q|MROH7_ENST00000421030.2_Missense_Mutation_p.E703Q|MROH7_ENST00000395690.2_Missense_Mutation_p.E703Q|MROH7_ENST00000339553.5_Missense_Mutation_p.E703Q|MROH7_ENST00000545244.1_Missense_Mutation_p.E271Q|MROH7_ENST00000454855.2_Missense_Mutation_p.E221Q	p.E703Q							12	2385	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2107G>C	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786539	0.49997	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	4.88	4.88	0.63580	.	0.000000	0.49305	D	0.000143	T	0.36468	0.0968	L	0.43152	1.355	0.32948	D	0.519404	P;P;P	0.51537	0.713;0.946;0.873	B;P;B	0.50314	0.424;0.637;0.415	T	0.52786	-0.8529	10	0.66056	D	0.02	-5.4278	13.5523	0.61738	0.0:0.0:1.0:0.0	.	703;703;271	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	Q	703;271;732;703;271;221;703	ENSP00000396622:E703Q;ENSP00000442333:E271Q;ENSP00000343211:E703Q;ENSP00000387048:E271Q;ENSP00000401130:E221Q;ENSP00000379044:E703Q	ENSP00000343211:E703Q	E	+	1	0	HEATR8	54917581	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	4.602000	0.61098	2.250000	0.74265	0.557000	0.71058	GAA		0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		40	115	0	0	0	1	0	40	115				
POR	5447	broad.mit.edu	37	7	75612939	75612939	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:75612939C>T	ENST00000461988.1	+	9	1037	c.932C>T	c.(931-933)tCg>tTg	p.S311L	POR_ENST00000545601.1_Missense_Mutation_p.S119L|POR_ENST00000450476.1_Missense_Mutation_p.S210L|POR_ENST00000419840.1_Missense_Mutation_p.S125L|POR_ENST00000394893.1_Missense_Mutation_p.S311L|POR_ENST00000439269.1_Missense_Mutation_p.S49L	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	308	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TTGGACATCTCGGACTCCAAA	0.622																																						ENST00000394893.1																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9						c.(931-933)tCg>tTg		P450 (cytochrome) oxidoreductase	Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)						85.0	104.0	98.0					7																	75612939		2092	4215	6307	SO:0001583	missense	5447				cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity	g.chr7:75612939C>T	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000461988.1:c.932C>T	7.37:g.75612939C>T	ENSP00000419970:p.Ser311Leu					POR_ENST00000439269.1_Missense_Mutation_p.S49L|POR_ENST00000419840.1_Missense_Mutation_p.S125L|POR_ENST00000461988.1_Missense_Mutation_p.S311L|POR_ENST00000450476.1_Missense_Mutation_p.S210L|POR_ENST00000545601.1_Missense_Mutation_p.S119L	p.S311L			P16435	NCPR_HUMAN			9	952	+			308			FAD-binding FR-type.		Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Missense_Mutation	SNP	ENST00000461988.1	37	c.932C>T	CCDS5579.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566497	0.65651	.	.	ENSG00000127948	ENST00000461988;ENST00000419840;ENST00000394893;ENST00000545601;ENST00000450476;ENST00000439269	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.2	4.32	0.51571	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.184666	0.46145	D	0.000306	D	0.88636	0.6490	M	0.85945	2.785	0.49389	D	0.999789	D;D;P;P	0.61080	0.989;0.975;0.95;0.857	P;P;B;B	0.54026	0.74;0.608;0.378;0.39	D	0.89853	0.4011	10	0.72032	D	0.01	-34.3956	12.4894	0.55891	0.0:0.9196:0.0:0.0804	.	308;210;119;317	P16435;E7EVY7;F5H468;Q59ED7	NCPR_HUMAN;.;.;.	L	311;125;311;119;210;49	ENSP00000419970:S311L;ENSP00000414244:S125L;ENSP00000378355:S311L;ENSP00000446149:S119L;ENSP00000416572:S210L;ENSP00000412490:S49L	ENSP00000378355:S311L	S	+	2	0	POR	75450875	1.000000	0.71417	0.989000	0.46669	0.912000	0.54170	4.716000	0.61916	1.201000	0.43203	0.561000	0.74099	TCG		0.622	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		14	96	0	0	0	1	0	14	96				
DEF8	54849	broad.mit.edu	37	16	90030604	90030604	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:90030604G>C	ENST00000268676.7	+	11	1301	c.1212G>C	c.(1210-1212)gaG>gaC	p.E404D	DEF8_ENST00000563795.1_Intron|DEF8_ENST00000563594.1_Missense_Mutation_p.E343D|DEF8_ENST00000569453.1_Missense_Mutation_p.E343D|DEF8_ENST00000570182.1_Missense_Mutation_p.E333D|DEF8_ENST00000567874.1_Missense_Mutation_p.E283D	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	404					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		ATTTTGTGGAGAACGACGAGA	0.657																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(1027-1029)gaG>gaC		differentially expressed in FDCP 8 homolog (mouse)							67.0	61.0	63.0					16																	90030604		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90030604G>C	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.1212G>C	16.37:g.90030604G>C	ENSP00000268676:p.Glu404Asp					DEF8_ENST00000569453.1_Missense_Mutation_p.E343D|DEF8_ENST00000268676.7_Missense_Mutation_p.E404D|DEF8_ENST00000567874.1_Missense_Mutation_p.E283D|DEF8_ENST00000563795.1_Intron|DEF8_ENST00000570182.1_Missense_Mutation_p.E333D	p.E343D	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	11	2026	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	404					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.1029G>C	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.211522	0.79240	.	.	ENSG00000140995	ENST00000268676	T	0.51071	0.72	5.24	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.43299	0.1241	L	0.31752	0.955	0.80722	D	1	P;P;P	0.42908	0.584;0.584;0.793	B;B;P	0.49276	0.237;0.254;0.605	T	0.24905	-1.0147	10	0.40728	T	0.16	-33.1476	10.2938	0.43612	0.1544:0.0:0.8456:0.0	.	283;333;404	Q6ZN54-4;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	D	404	ENSP00000268676:E404D	ENSP00000268676:E404D	E	+	3	2	DEF8	88558105	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.363000	0.59473	2.464000	0.83262	0.556000	0.70494	GAG		0.657	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		5	52	0	0	0	1	0	5	52				
CCDC8	83987	broad.mit.edu	37	19	46914545	46914545	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:46914545C>G	ENST00000307522.3	-	1	2296	c.1523G>C	c.(1522-1524)aGa>aCa	p.R508T		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	508					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTGGGGACTCTCTTGGGCAG	0.622																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1522-1524)aGa>aCa		coiled-coil domain containing 8							59.0	57.0	58.0					19																	46914545		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914545C>G	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1523G>C	19.37:g.46914545C>G	ENSP00000303158:p.Arg508Thr						p.R508T	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2296	-			508					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1523G>C	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763146	0.69763	.	.	ENSG00000169515	ENST00000307522	T	0.21734	1.99	4.05	4.05	0.47172	.	0.000000	0.40064	N	0.001200	T	0.42426	0.1202	M	0.66939	2.045	0.27257	N	0.958722	D	0.76494	0.999	D	0.83275	0.996	T	0.14755	-1.0461	10	0.87932	D	0	-7.8691	12.0116	0.53291	0.0:1.0:0.0:0.0	.	508	Q9H0W5	CCDC8_HUMAN	T	508	ENSP00000303158:R508T	ENSP00000303158:R508T	R	-	2	0	CCDC8	51606385	0.988000	0.35896	1.000000	0.80357	0.941000	0.58515	2.586000	0.46119	2.546000	0.85860	0.455000	0.32223	AGA		0.622	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		9	76	0	0	0	1	0	9	76				
GPR142	350383	broad.mit.edu	37	17	72368688	72368688	+	Silent	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:72368688G>A	ENST00000335666.4	+	4	1386	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	446						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGGGCATGGCGGCGAAGCCTG	0.617																																						ENST00000335666.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						c.(1336-1338)gcG>gcA		G protein-coupled receptor 142							29.0	29.0	29.0					17																	72368688		2199	4298	6497	SO:0001819	synonymous_variant	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368688G>A	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1338G>A	17.37:g.72368688G>A							p.A446A	NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN			4	1386	+			446					A4CYJ8|Q86SL3	Silent	SNP	ENST00000335666.4	37	c.1338G>A	CCDS11698.1																																																																																				0.617	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790		4	41	0	0	0	1	0	4	41				
SNRNP27	11017	broad.mit.edu	37	2	70131458	70131458	+	3'UTR	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:70131458G>C	ENST00000244227.3	+	0	911				SNRNP27_ENST00000409116.1_Missense_Mutation_p.D141H|AC019206.1_ENST00000599032.1_5'Flank	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AGTGTTGAAGGATGATTTTTT	0.348																																						ENST00000409116.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(421-423)Gat>Cat		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)							113.0	103.0	106.0					2																	70131458		2203	4299	6502	SO:0001624	3_prime_UTR_variant	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70131458G>C	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.*18G>C	2.37:g.70131458G>C						SNRNP27_ENST00000244227.3_3'UTR	p.D141H			Q8WVK2	SNR27_HUMAN			5	447	+			0					Q15410	Missense_Mutation	SNP	ENST00000244227.3	37	c.421G>C	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	G	3.472	-0.107743	0.06924	.	.	ENSG00000124380	ENST00000409116	T	0.37584	1.19	5.09	-0.0536	0.13817	.	.	.	.	.	T	0.27205	0.0667	.	.	.	0.34387	D	0.69377	B	0.17268	0.021	B	0.17433	0.018	T	0.19451	-1.0305	8	0.59425	D	0.04	.	8.1438	0.31100	0.7232:0.0:0.2768:0.0	.	141	B8ZZ98	.	H	141	ENSP00000386608:D141H	ENSP00000386608:D141H	D	+	1	0	SNRNP27	69984962	0.040000	0.19996	0.213000	0.23690	0.104000	0.19210	0.227000	0.17795	-0.130000	0.11599	-1.154000	0.01816	GAT		0.348	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		7	64	0	0	0	1	0	7	64				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	32	0	0	0	1	0	4	32				
MIP	4284	broad.mit.edu	37	12	56848316	56848316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:56848316G>T	ENST00000257979.4	-	1	110	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	28					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GAGGACCCCAGCCCAAAGAAG	0.587																																						ENST00000257979.4																			0				kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						c.(82-84)Ctg>Atg		major intrinsic protein of lens fiber							102.0	100.0	100.0					12																	56848316		2203	4300	6503	SO:0001583	missense	4284				response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	g.chr12:56848316G>T		CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.82C>A	12.37:g.56848316G>T	ENSP00000257979:p.Leu28Met					MIP_ENST00000555551.1_Intron	p.L28M	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN			1	110	-			28					Q17R41	Missense_Mutation	SNP	ENST00000257979.4	37	c.82C>A	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.947347	0.53186	.	.	ENSG00000135517	ENST00000257979	D	0.93488	-3.23	5.31	3.49	0.39957	Aquaporin-like (2);	0.072459	0.56097	D	0.000028	D	0.92925	0.7749	L	0.51914	1.62	0.48571	D	0.999678	P	0.45634	0.863	P	0.53549	0.729	D	0.91328	0.5087	10	0.59425	D	0.04	-6.0987	8.3369	0.32219	0.2449:0.0:0.7551:0.0	.	28	P30301	MIP_HUMAN	M	28	ENSP00000257979:L28M	ENSP00000257979:L28M	L	-	1	2	MIP	55134583	0.423000	0.25482	0.930000	0.37139	0.987000	0.75469	0.664000	0.25068	0.749000	0.32854	0.655000	0.94253	CTG		0.587	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064		9	107	1	0	0.00448238	1	0.00460288	9	107				
OR4X2	119764	broad.mit.edu	37	11	48266856	48266856	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:48266856C>T	ENST00000302329.3	+	1	249	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTACTCCTCCGCTACAGCCC	0.502																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(199-201)tcC>tcT		olfactory receptor, family 4, subfamily X, member 2							144.0	139.0	140.0					11																	48266856		2201	4298	6499	SO:0001819	synonymous_variant	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266856C>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.201C>T	11.37:g.48266856C>T							p.S67S	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	249	+			67					B2RNK3|Q6IF73|Q96R63	Silent	SNP	ENST00000302329.3	37	c.201C>T	CCDS31486.1																																																																																				0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		19	120	0	0	0	1	0	19	120				
LTBP3	4054	broad.mit.edu	37	11	65314018	65314018	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:65314018C>A	ENST00000301873.5	-	16	2516	c.2248G>T	c.(2248-2250)Gag>Tag	p.E750*	LTBP3_ENST00000530785.1_5'Flank|LTBP3_ENST00000322147.4_Nonsense_Mutation_p.E750*|LTBP3_ENST00000536982.1_Nonsense_Mutation_p.E376*|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000532932.1_Nonsense_Mutation_p.E180*	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	750	Cys-rich.|EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GGGCTGCCCTCGGCGCACTCG	0.726																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2248-2250)Gag>Tag		latent transforming growth factor beta binding protein 3							16.0	24.0	21.0					11																	65314018		2192	4283	6475	SO:0001587	stop_gained	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65314018C>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2248G>T	11.37:g.65314018C>A	ENSP00000301873:p.Glu750*					LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000322147.4_Nonsense_Mutation_p.E750*|LTBP3_ENST00000536982.1_Nonsense_Mutation_p.E376*|LTBP3_ENST00000532932.1_Nonsense_Mutation_p.E180*	p.E750*	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			16	2516	-			750			Cys-rich.|EGF-like 6; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Nonsense_Mutation	SNP	ENST00000301873.5	37	c.2248G>T	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.470837|4.470837	0.84533|0.84533	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866;ENST00000527339|ENST00000526927	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.325165|.	0.32175|.	N|.	0.006463|.	.|T	.|0.64735	.|0.2625	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70941	.|-0.4735	.|3	0.08599|.	T|.	0.76|.	.|.	13.7804|13.7804	0.63079|0.63079	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	750;750;180;376;661;90|400	.|.	ENSP00000301873:E750X|.	E|R	-|-	1|2	0|0	LTBP3|LTBP3	65070594|65070594	0.211000|0.211000	0.23529|0.23529	0.989000|0.989000	0.46669|0.46669	0.652000|0.652000	0.38707|0.38707	2.305000|2.305000	0.43664|0.43664	2.319000|2.319000	0.78375|0.78375	0.455000|0.455000	0.32223|0.32223	GAG|CGA		0.726	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		4	8	1	0	3.59834e-05	1	3.77628e-05	4	8				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			414212							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		4	60	0	0	0	1	0	4	60				
MICAL1	64780	broad.mit.edu	37	6	109766982	109766982	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:109766982C>T	ENST00000358807.3	-	20	2976	c.2665G>A	c.(2665-2667)Gtg>Atg	p.V889M	MICAL1_ENST00000368952.4_Missense_Mutation_p.V908M|MICAL1_ENST00000358577.3_Missense_Mutation_p.V803M	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	889					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ACCTGTTCCACATCTGAGTCC	0.522																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2722-2724)Gtg>Atg		microtubule associated monooxygenase, calponin and LIM domain containing 1							54.0	49.0	51.0					6																	109766982		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766982C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2665G>A	6.37:g.109766982C>T	ENSP00000351664:p.Val889Met					MICAL1_ENST00000358807.3_Missense_Mutation_p.V889M|MICAL1_ENST00000358577.3_Missense_Mutation_p.V803M	p.V908M			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	20	3012	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	889					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2722G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471264	0.26423	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.52295	0.68;0.67;0.67	5.0	-9.5	0.00584	.	2.466440	0.00964	N	0.003148	T	0.11665	0.0284	N	0.21448	0.665	0.09310	N	1	B;B;B	0.23185	0.017;0.081;0.007	B;B;B	0.27500	0.014;0.08;0.009	T	0.10382	-1.0632	10	0.34782	T	0.22	.	6.4916	0.22119	0.1515:0.58:0.1054:0.1631	.	908;803;889	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	M	889;908;803;413;145	ENSP00000351664:V889M;ENSP00000357948:V908M;ENSP00000351385:V803M	ENSP00000335372:V145M	V	-	1	0	MICAL1	109873675	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.999000	0.01467	-1.486000	0.01851	-0.345000	0.07892	GTG		0.522	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		3	12	0	0	0	1	0	3	12				
SLC22A14	9389	broad.mit.edu	37	3	38349184	38349184	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:38349184G>A	ENST00000273173.4	+	3	839	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	SLC22A14_ENST00000448498.1_Missense_Mutation_p.G250S	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	250					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTCAGTGGTGGGCTACGCCAT	0.577																																						ENST00000273173.4																			0				central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21						c.(748-750)Ggc>Agc		solute carrier family 22, member 14							173.0	165.0	168.0					3																	38349184		2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38349184G>A	AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.748G>A	3.37:g.38349184G>A	ENSP00000273173:p.Gly250Ser					SLC22A14_ENST00000448498.1_Missense_Mutation_p.G250S	p.G250S	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	3	839	+			250					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.748G>A	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415714	0.62511	.	.	ENSG00000144671	ENST00000466887;ENST00000448498;ENST00000423219;ENST00000273173	T;T;T	0.75477	-0.62;-0.94;-0.94	5.0	2.12	0.27331	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.106709	0.64402	D	0.000005	T	0.82015	0.4945	M	0.74881	2.28	0.24861	N	0.992349	D	0.71674	0.998	D	0.73708	0.981	T	0.71580	-0.4550	10	0.56958	D	0.05	.	7.3235	0.26542	0.082:0.0:0.6204:0.2975	.	250	Q9Y267	S22AE_HUMAN	S	118;250;250;250	ENSP00000442528:G118S;ENSP00000396283:G250S;ENSP00000273173:G250S	ENSP00000273173:G250S	G	+	1	0	SLC22A14	38324188	0.993000	0.37304	0.219000	0.23793	0.006000	0.05464	2.304000	0.43655	0.211000	0.20683	-0.136000	0.14681	GGC		0.577	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		34	100	0	0	0	1	0	34	100				
AFM	173	broad.mit.edu	37	4	74350051	74350051	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:74350051G>C	ENST00000226355.3	+	3	307	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	72	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGACATGGTAGAATACAAAGA	0.388																																						ENST00000226355.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(214-216)Gaa>Caa		afamin							117.0	117.0	117.0					4																	74350051		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74350051G>C	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.214G>C	4.37:g.74350051G>C	ENSP00000226355:p.Glu72Gln						p.E72Q	NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	307	+	Breast(15;0.00102)		72			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.214G>C	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	7.671	0.686951	0.14973	.	.	ENSG00000079557	ENST00000226355	T	0.44482	0.92	5.09	1.3	0.21679	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.061170	0.07301	N	0.874101	T	0.33933	0.0880	L	0.40543	1.245	0.09310	N	1	P	0.38677	0.642	B	0.40741	0.339	T	0.23404	-1.0189	10	0.28530	T	0.3	.	4.6995	0.12820	0.2714:0.1576:0.571:0.0	.	72	P43652	AFAM_HUMAN	Q	72	ENSP00000226355:E72Q	ENSP00000226355:E72Q	E	+	1	0	AFM	74568915	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.516000	0.22817	0.205000	0.20568	-0.145000	0.13849	GAA		0.388	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			14	94	0	0	0	1	0	14	94				
HELQ	113510	broad.mit.edu	37	4	84350691	84350691	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:84350691C>T	ENST00000295488.3	-	12	2666	c.2504G>A	c.(2503-2505)cGt>cAt	p.R835H	HELQ_ENST00000510985.1_Missense_Mutation_p.R768H	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	835					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AAATGAAGCACGTCCCAACTT	0.313								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(2503-2505)cGt>cAt	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							70.0	74.0	72.0					4																	84350691		2202	4298	6500	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84350691C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2504G>A	4.37:g.84350691C>T	ENSP00000295488:p.Arg835His					HELQ_ENST00000510985.1_Missense_Mutation_p.R768H	p.R835H	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			12	2666	-			835					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.2504G>A	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.280574	0.40294	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.47528	0.84;0.84	5.51	-0.162	0.13367	.	0.592683	0.17979	N	0.155608	T	0.35248	0.0925	L	0.53561	1.675	0.34368	D	0.691747	B;B	0.26672	0.156;0.11	B;B	0.21917	0.023;0.037	T	0.28522	-1.0041	10	0.51188	T	0.08	-26.197	4.3687	0.11237	0.1773:0.2183:0.0:0.6044	.	768;835	E3W980;Q8TDG4	.;HELQ_HUMAN	H	835;768	ENSP00000295488:R835H;ENSP00000424539:R768H	ENSP00000295488:R835H	R	-	2	0	HELQ	84569715	0.943000	0.32029	0.988000	0.46212	0.926000	0.56050	0.089000	0.15002	0.017000	0.15025	0.467000	0.42956	CGT		0.313	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		7	68	0	0	0	1	0	7	68				
MTCL1	23255	broad.mit.edu	37	18	8720391	8720391	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr18:8720391A>T	ENST00000306329.11	+	3	1334	c.1334A>T	c.(1333-1335)aAg>aTg	p.K445M	SOGA2_ENST00000400050.3_Missense_Mutation_p.K85M|Y_RNA_ENST00000516510.1_RNA|SOGA2_ENST00000359865.3_Missense_Mutation_p.K85M|SOGA2_ENST00000517570.1_Missense_Mutation_p.K85M|SOGA2_ENST00000306285.7_5'UTR																							GTGGAGGAAAAGCGCGCTAAA	0.463																																						ENST00000359865.3																			0											c.(253-255)aAg>aTg		SOGA family member 2							115.0	99.0	104.0					18																	8720391		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8720391A>T																												ENST00000306329.11:c.1334A>T	18.37:g.8720391A>T	ENSP00000305027:p.Lys445Met					SOGA2_ENST00000400050.3_Missense_Mutation_p.K85M|SOGA2_ENST00000517570.1_Missense_Mutation_p.K85M|SOGA2_ENST00000306329.11_Missense_Mutation_p.K445M|SOGA2_ENST00000306285.7_5'UTR	p.K85M	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			4	396	+			436						Missense_Mutation	SNP	ENST00000306329.11	37	c.254A>T		.	.	.	.	.	.	.	.	.	.	A	23.7	4.453051	0.84209	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	D;D;D	0.82893	-1.66;-1.66;-1.66	5.17	5.17	0.71159	.	0.000000	0.48767	D	0.000177	D	0.91673	0.7368	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92989	0.6413	10	0.72032	D	0.01	-56.4097	15.3134	0.74053	1.0:0.0:0.0:0.0	.	85	Q9Y4B5-3	.	M	106;85;85;85	ENSP00000429556:K85M;ENSP00000352927:K85M;ENSP00000382924:K85M	ENSP00000305027:K106M	K	+	2	0	CCDC165	8710391	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.526000	0.81920	2.085000	0.62840	0.528000	0.53228	AAG		0.463	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			17	72	0	0	0	1	0	17	72				
CTSD	1509	broad.mit.edu	37	11	1775232	1775232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:1775232G>A	ENST00000236671.2	-	7	1096	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	RP11-295K3.1_ENST00000427721.1_Silent_p.F192F	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	322					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACCTCGCCCTGAATCAGCGGC	0.692																																						ENST00000236671.2																			0				endometrium(1)|large_intestine(4)|lung(8)	13						c.(964-966)Cag>Tag		cathepsin D	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						24.0	21.0	22.0					11																	1775232		2194	4296	6490	SO:0001587	stop_gained	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1775232G>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.964C>T	11.37:g.1775232G>A	ENSP00000236671:p.Gln322*					RP11-295K3.1_ENST00000427721.1_Silent_p.F192F	p.Q322*	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	7	1096	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	322					Q6IB57	Nonsense_Mutation	SNP	ENST00000236671.2	37	c.964C>T	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	g	13.85	2.360564	0.41801	.	.	ENSG00000117984	ENST00000236671;ENST00000429746	.	.	.	3.57	3.57	0.40892	.	0.118364	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	11.2837	0.49210	0.0:0.0:0.7711:0.2289	.	.	.	.	X	322;99	.	ENSP00000236671:Q322X	Q	-	1	0	CTSD	1731808	1.000000	0.71417	0.994000	0.49952	0.158000	0.22134	3.137000	0.50562	2.289000	0.77006	0.462000	0.41574	CAG		0.692	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		5	17	0	0	0	1	0	5	17				
NPY1R	4886	broad.mit.edu	37	4	164246608	164246608	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:164246608G>C	ENST00000296533.2	-	3	1533	c.1002C>G	c.(1000-1002)ttC>ttG	p.F334L	NPY1R_ENST00000509586.1_Missense_Mutation_p.F91L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	334					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAAGTTGAAGAAGAACTGCA	0.418																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(1000-1002)ttC>ttG		neuropeptide Y receptor Y1							123.0	133.0	129.0					4																	164246608		2203	4300	6503	SO:0001583	missense	4886				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246608G>C		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.1002C>G	4.37:g.164246608G>C	ENSP00000354652:p.Phe334Leu					NPY1R_ENST00000509586.1_Missense_Mutation_p.F91L	p.F334L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			3	1533	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	334					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.1002C>G	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	0.529	-0.858722	0.02610	.	.	ENSG00000164128	ENST00000296533;ENST00000509586	T;T	0.30182	1.54;1.54	5.48	3.64	0.41730	.	0.305004	0.32015	N	0.006709	T	0.04907	0.0132	N	0.00125	-2.05	0.41483	D	0.988176	B	0.02656	0.0	B	0.01281	0.0	T	0.27872	-1.0061	10	0.02654	T	1	.	5.9768	0.19385	0.2346:0.0:0.6335:0.1319	.	334	P25929	NPY1R_HUMAN	L	334;91	ENSP00000354652:F334L;ENSP00000427284:F91L	ENSP00000354652:F334L	F	-	3	2	NPY1R	164466058	0.996000	0.38824	1.000000	0.80357	0.949000	0.60115	0.340000	0.19892	0.580000	0.29522	0.655000	0.94253	TTC		0.418	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			24	128	0	0	0	1	0	24	128				
PEX5	5830	broad.mit.edu	37	12	7343015	7343015	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:7343015C>T	ENST00000455147.2	+	3	622	c.42C>T	c.(40-42)gcC>gcT	p.A14A	PEX5_ENST00000266563.5_Silent_p.A14A|PEX5_ENST00000434354.2_Silent_p.A14A|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000412720.2_Silent_p.A35A|PEX5_ENST00000266564.3_Silent_p.A14A|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000420616.2_Silent_p.A14A|PEX5_ENST00000545220.1_Intron	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	14					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCGGGGGTGCCAACCCGCTCA	0.667																																						ENST00000266563.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						c.(40-42)gcC>gcT		peroxisomal biogenesis factor 5							59.0	64.0	63.0					12																	7343015		2203	4300	6503	SO:0001819	synonymous_variant	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7343015C>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.42C>T	12.37:g.7343015C>T						PEX5_ENST00000412720.2_Silent_p.A35A|PEX5_ENST00000434354.2_Silent_p.A14A|PEX5_ENST00000455147.2_Silent_p.A14A|PEX5_ENST00000266564.3_Silent_p.A14A|PEX5_ENST00000420616.2_Silent_p.A14A|PEX5_ENST00000545220.1_Intron	p.A14A	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN			2	225	+			14					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	c.42C>T	CCDS44823.1																																																																																				0.667	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		21	83	0	0	0	1	0	21	83				
ZSWIM4	65249	broad.mit.edu	37	19	13941241	13941241	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:13941241T>G	ENST00000254323.2	+	13	2536	c.2347T>G	c.(2347-2349)Tcg>Gcg	p.S783A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.S617A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	783							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GAAGAACCACTCGGCCTTCGA	0.697																																						ENST00000254323.2																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(2347-2349)Tcg>Gcg		zinc finger, SWIM-type containing 4							79.0	81.0	80.0					19																	13941241		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13941241T>G	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2347T>G	19.37:g.13941241T>G	ENSP00000254323:p.Ser783Ala					ZSWIM4_ENST00000440752.2_Missense_Mutation_p.S617A	p.S783A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		13	2536	+			783						Missense_Mutation	SNP	ENST00000254323.2	37	c.2347T>G	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	T	0.074	-1.196505	0.01594	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.40756	1.02;1.03	4.14	3.09	0.35607	.	0.205124	0.32640	N	0.005825	T	0.12135	0.0295	N	0.01109	-1.01	0.20074	N	0.999931	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.23691	-1.0181	10	0.15066	T	0.55	-2.7245	5.0101	0.14308	0.1126:0.0:0.6655:0.2219	.	617;783	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	A	783;617	ENSP00000254323:S783A;ENSP00000405278:S617A	ENSP00000254323:S783A	S	+	1	0	ZSWIM4	13802241	0.986000	0.35501	0.104000	0.21259	0.292000	0.27327	2.732000	0.47352	0.690000	0.31570	-0.636000	0.03981	TCG		0.697	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		14	144	0	0	0	1	0	14	144				
SOX12	6666	broad.mit.edu	37	20	307440	307440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:307440G>A	ENST00000342665.2	+	1	1202	c.872G>A	c.(871-873)tGc>tAc	p.C291Y	RP5-1103G7.4_ENST00000442637.1_RNA|SOX12_ENST00000544632.1_Missense_Mutation_p.C291Y|RP5-1103G7.4_ENST00000414676.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	291					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCGGACTACTGCACCCCCGAG	0.701																																						ENST00000342665.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2						c.(871-873)tGc>tAc		SRY (sex determining region Y)-box 12							26.0	31.0	30.0					20																	307440		2203	4300	6503	SO:0001583	missense	6666				cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding	g.chr20:307440G>A	U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.872G>A	20.37:g.307440G>A	ENSP00000347646:p.Cys291Tyr					SOX12_ENST00000544632.1_Missense_Mutation_p.C291Y|RP5-1103G7.4_ENST00000442637.1_RNA	p.C291Y	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		1	1202	+		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	291					Q5D038|Q9NUD4	Missense_Mutation	SNP	ENST00000342665.2	37	c.872G>A	CCDS12995.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083852	0.55861	.	.	ENSG00000177732	ENST00000544632;ENST00000342665	D;D	0.98777	-5.13;-5.13	3.87	3.87	0.44632	.	0.000000	0.56097	U	0.000022	D	0.98692	0.9561	L	0.60455	1.87	0.52501	D	0.999958	D	0.89917	1.0	D	0.83275	0.996	D	0.99552	1.0966	10	0.87932	D	0	.	14.5377	0.67973	0.0:0.0:1.0:0.0	.	291	O15370	SOX12_HUMAN	Y	291	ENSP00000441671:C291Y;ENSP00000347646:C291Y	ENSP00000347646:C291Y	C	+	2	0	SOX12	255440	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.458000	0.97634	1.986000	0.57962	0.305000	0.20034	TGC		0.701	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077435.2	NM_006943		12	37	0	0	0	1	0	12	37				
NOTCH1	4851	broad.mit.edu	37	9	139412326	139412326	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr9:139412326C>A	ENST00000277541.6	-	8	1394	c.1319G>T	c.(1318-1320)tGt>tTt	p.C440F	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	440	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCCTGCAGACACTGGCACTC	0.657			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1318-1320)tGt>tTt		notch 1							48.0	54.0	52.0					9																	139412326		2188	4280	6468	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412326C>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1319G>T	9.37:g.139412326C>A	ENSP00000277541:p.Cys440Phe	HNSCC(8;0.001)					p.C440F	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1394	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	440			EGF-like 11; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1319G>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.090159	0.76756	.	.	ENSG00000148400	ENST00000277541	D	0.99933	-8.27	4.57	4.57	0.56435	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96179	0.9129	10	0.87932	D	0	.	16.3317	0.83023	0.0:1.0:0.0:0.0	.	440	P46531	NOTC1_HUMAN	F	440	ENSP00000277541:C440F	ENSP00000277541:C440F	C	-	2	0	NOTCH1	138532147	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.253000	0.78320	2.088000	0.63022	0.462000	0.41574	TGT		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		25	53	1	0	3.28513e-13	1	3.66935e-13	25	53				
ATAD5	79915	broad.mit.edu	37	17	29220393	29220393	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:29220393T>C	ENST00000321990.4	+	21	4900	c.4522T>C	c.(4522-4524)Tat>Cat	p.Y1508H		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1508					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGATTTTTTATATAGTAATCT	0.353																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(4522-4524)Tat>Cat		ATPase family, AAA domain containing 5							75.0	91.0	85.0					17																	29220393		2191	4294	6485	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220393T>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4522T>C	17.37:g.29220393T>C	ENSP00000313171:p.Tyr1508His						p.Y1508H	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			21	4900	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1508					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.4522T>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256960	0.22965	.	.	ENSG00000176208	ENST00000321990	T	0.16597	2.33	5.68	1.02	0.19986	.	0.781535	0.12764	N	0.441085	T	0.11281	0.0275	N	0.25380	0.74	0.27509	N	0.951755	B	0.16166	0.016	B	0.12156	0.007	T	0.28459	-1.0043	10	0.30854	T	0.27	.	9.0311	0.36260	0.0:0.3704:0.0:0.6296	.	1508	Q96QE3	ATAD5_HUMAN	H	1508	ENSP00000313171:Y1508H	ENSP00000313171:Y1508H	Y	+	1	0	ATAD5	26244519	0.999000	0.42202	0.998000	0.56505	0.798000	0.45092	0.343000	0.19944	0.174000	0.19809	0.482000	0.46254	TAT		0.353	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		32	135	0	0	0	1	0	32	135				
CARD6	84674	broad.mit.edu	37	5	40854219	40854219	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:40854219C>A	ENST00000254691.5	+	3	2984	c.2785C>A	c.(2785-2787)Ctc>Atc	p.L929I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	929					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AAATCCAGCTCTCCAAATAGG	0.507																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(2785-2787)Ctc>Atc		caspase recruitment domain family, member 6							132.0	143.0	139.0					5																	40854219		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40854219C>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.2785C>A	5.37:g.40854219C>A	ENSP00000254691:p.Leu929Ile					CARD6_ENST00000381677.3_Intron	p.L929I	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	2984	+			929					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.2785C>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847417	0.32606	.	.	ENSG00000132357	ENST00000254691	T	0.11930	2.73	4.6	-5.08	0.02929	.	1.384660	0.04600	N	0.398394	T	0.06735	0.0172	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.33394	-0.9870	10	0.22706	T	0.39	0.4792	2.0654	0.03601	0.1388:0.1828:0.4256:0.2528	.	929	Q9BX69	CARD6_HUMAN	I	929	ENSP00000254691:L929I	ENSP00000254691:L929I	L	+	1	0	CARD6	40889976	0.000000	0.05858	0.000000	0.03702	0.186000	0.23388	-0.687000	0.05156	-1.012000	0.03387	0.313000	0.20887	CTC		0.507	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			37	154	1	0	2.09667e-21	1	2.42705e-21	37	154				
PPP2R5D	5528	broad.mit.edu	37	6	42975736	42975736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:42975736C>T	ENST00000485511.1	+	7	969	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R256C|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R232C|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R158C	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	264					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CATTTTGCATCGCATCTATGG	0.537																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(790-792)Cgc>Tgc		protein phosphatase 2, regulatory subunit B', delta							122.0	117.0	119.0					6																	42975736		2203	4300	6503	SO:0001583	missense	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42975736C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.790C>T	6.37:g.42975736C>T	ENSP00000417963:p.Arg264Cys					PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R256C|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R232C|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R158C	p.R264C	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		7	969	+			264					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	c.790C>T	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.680290|3.680290	0.68042|0.68042	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	T;T;T;T|.	0.57436|.	0.4;0.44;0.42;0.49|.	5.84|5.84	5.84|5.84	0.93424|0.93424	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86619|0.86619	0.5976|0.5976	H|H	0.98005|0.98005	4.125|4.125	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.90394|0.90394	0.4397|0.4397	10|5	0.87932|.	D|.	0|.	-18.7245|-18.7245	13.1057|13.1057	0.59246|0.59246	0.2645:0.7355:0.0:0.0|0.2645:0.7355:0.0:0.0	.|.	158;264;264;232|.	Q14738-3;F5GYS1;Q14738;Q14738-2|.	.;.;2A5D_HUMAN;.|.	C|L	264;232;256;264;158|183	ENSP00000417963:R264C;ENSP00000377669:R232C;ENSP00000420550:R256C;ENSP00000420674:R158C|.	ENSP00000377669:R232C|.	R|S	+|+	1|2	0|0	PPP2R5D|PPP2R5D	43083714|43083714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	2.576000|2.576000	0.46033|0.46033	2.760000|2.760000	0.94817|0.94817	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.537	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		14	152	0	0	0	1	0	14	152				
SSH2	85464	broad.mit.edu	37	17	27999102	27999102	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:27999102C>T	ENST00000269033.3	-	8	730	c.579G>A	c.(577-579)gcG>gcA	p.A193A	SSH2_ENST00000540801.1_Silent_p.A220A|RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000324677.7_5'Flank	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	193					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTAGTTATGCGCTCTGGCGA	0.473																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(577-579)gcG>gcA		slingshot protein phosphatase 2							161.0	142.0	149.0					17																	27999102		2203	4300	6503	SO:0001819	synonymous_variant	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27999102C>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.579G>A	17.37:g.27999102C>T						RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.A220A	p.A193A	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			8	730	-			193					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Silent	SNP	ENST00000269033.3	37	c.579G>A	CCDS11253.1																																																																																				0.473	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		16	75	0	0	0	1	0	16	75				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	14	0	0	0	1	0	4	14				
SLC6A3	6531	broad.mit.edu	37	5	1432607	1432607	+	Missense_Mutation	SNP	C	C	A	rs372788698		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:1432607C>A	ENST00000270349.9	-	4	752	c.625G>T	c.(625-627)Ggg>Tgg	p.G209W	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G209W	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	209					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGTGTGGTCCCAAAAGTGTCG	0.612																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(625-627)Ggg>Tgg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						84.0	75.0	78.0					5																	1432607		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1432607C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.625G>T	5.37:g.1432607C>A	ENSP00000270349:p.Gly209Trp					SLC6A3_ENST00000453492.2_Missense_Mutation_p.G209W	p.G209W	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		4	752	-			209					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.625G>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.784282	0.31593	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.74526	-0.85;-0.85;-0.85	4.34	-0.609	0.11608	.	0.723385	0.12655	N	0.450150	T	0.72220	0.3433	L	0.41824	1.3	0.09310	N	1	D	0.54207	0.965	P	0.58391	0.838	T	0.60845	-0.7182	10	0.37606	T	0.19	.	5.5808	0.17248	0.0:0.1441:0.5651:0.2908	.	209	Q01959	SC6A3_HUMAN	W	209;209;135	ENSP00000270349:G209W;ENSP00000399806:G209W;ENSP00000429101:G135W	ENSP00000270349:G209W	G	-	1	0	SLC6A3	1485607	0.986000	0.35501	0.027000	0.17364	0.696000	0.40369	1.477000	0.35431	-0.276000	0.09206	0.591000	0.81541	GGG		0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		12	36	1	0	5.16669e-11	1	5.73742e-11	12	36				
NFATC2IP	84901	broad.mit.edu	37	16	28967619	28967619	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:28967619C>T	ENST00000320805.4	+	5	882	c.807C>T	c.(805-807)atC>atT	p.I269I	RP11-264B17.2_ENST00000568057.1_RNA|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000568148.1_5'Flank|MIR4517_ENST00000578855.1_RNA|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	269					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CACTCAAAATCCGTTGCCGGG	0.607																																						ENST00000320805.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						c.(805-807)atC>atT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein							45.0	43.0	44.0					16																	28967619		2197	4300	6497	SO:0001819	synonymous_variant	84901					cytoplasm|nucleus		g.chr16:28967619C>T	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.807C>T	16.37:g.28967619C>T						NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	p.I269I	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN			5	882	+			269					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Silent	SNP	ENST00000320805.4	37	c.807C>T	CCDS10645.1																																																																																				0.607	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		4	48	0	0	0	1	0	4	48				
GGCT	79017	broad.mit.edu	37	7	30538508	30538508	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:30538508C>G	ENST00000275428.4	-	3	468	c.334G>C	c.(334-336)Gtt>Ctt	p.V112L	GGCT_ENST00000409436.1_Missense_Mutation_p.V112L|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.V27L	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	112					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						TGAGTTGCAACTTTAACTTCT	0.373																																						ENST00000275428.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						c.(334-336)Gtt>Ctt		gamma-glutamylcyclotransferase							166.0	154.0	158.0					7																	30538508		2203	4300	6503	SO:0001583	missense	79017				release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	g.chr7:30538508C>G	BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.334G>C	7.37:g.30538508C>G	ENSP00000275428:p.Val112Leu					GGCT_ENST00000005374.6_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.V27L|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409436.1_Missense_Mutation_p.V112L	p.V112L	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN			3	468	-			112					B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Missense_Mutation	SNP	ENST00000275428.4	37	c.334G>C	CCDS5428.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870271	0.91587	.	.	ENSG00000006625	ENST00000275428;ENST00000497601;ENST00000409436	.	.	.	5.55	5.55	0.83447	Butirosin biosynthesis, BtrG-like (1);AIG2-like (1);	0.000000	0.85682	D	0.000000	D	0.86912	0.6047	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.989;0.998	D	0.89018	0.3433	9	0.56958	D	0.05	-12.432	18.8487	0.92218	0.0:1.0:0.0:0.0	.	112;51	O75223;E7EU55	GGCT_HUMAN;.	L	112;51;112	.	ENSP00000275428:V112L	V	-	1	0	GGCT	30505033	0.990000	0.36364	0.888000	0.34837	0.933000	0.57130	3.322000	0.52007	2.773000	0.95371	0.650000	0.86243	GTT		0.373	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		8	100	0	0	0	1	0	8	100				
BTC	685	broad.mit.edu	37	4	75673268	75673268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:75673268C>T	ENST00000395743.3	-	5	880	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	174					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			ATATTTGTCTCTTCAATATCT	0.338																																						ENST00000395743.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(520-522)Gag>Aag		betacellulin							146.0	146.0	146.0					4																	75673268		2201	4299	6500	SO:0001583	missense	685				positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	g.chr4:75673268C>T	S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.520G>A	4.37:g.75673268C>T	ENSP00000379092:p.Glu174Lys						p.E174K	NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	Lung(101;0.219)		5	880	-			174					Q96F48	Missense_Mutation	SNP	ENST00000395743.3	37	c.520G>A	CCDS3566.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831930	0.50845	.	.	ENSG00000174808	ENST00000395743	T	0.11930	2.73	4.84	4.84	0.62591	.	0.276731	0.30949	N	0.008556	T	0.23688	0.0573	N	0.24115	0.695	0.35156	D	0.770261	D	0.67145	0.996	D	0.77557	0.99	T	0.18840	-1.0324	10	0.87932	D	0	-18.5521	14.169	0.65497	0.0:1.0:0.0:0.0	.	174	P35070	BTC_HUMAN	K	174	ENSP00000379092:E174K	ENSP00000379092:E174K	E	-	1	0	BTC	75892292	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	2.573000	0.46007	2.601000	0.87937	0.655000	0.94253	GAG		0.338	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252413.1			9	58	0	0	0	1	0	9	58				
MFSD11	79157	broad.mit.edu	37	17	74734467	74734467	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:74734467C>T	ENST00000588460.1	+	1	2075	c.33C>T	c.(31-33)atC>atT	p.I11I	SRSF2_ENST00000508921.3_5'Flank|SRSF2_ENST00000359995.5_5'Flank|MFSD11_ENST00000593181.1_Silent_p.I11I|RP11-318A15.7_ENST00000587459.1_3'UTR|MFSD11_ENST00000355954.3_Silent_p.I11I|MFSD11_ENST00000586622.1_Silent_p.I11I|MFSD11_ENST00000591864.1_Silent_p.I11I|MFSD11_ENST00000590393.1_Silent_p.I11I|MFSD11_ENST00000590514.1_Silent_p.I11I|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_Silent_p.I11I|SRSF2_ENST00000392485.2_5'Flank	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	11						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTTTCAACATCATTATTTTAG	0.502																																						ENST00000588460.1																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						c.(31-33)atC>atT		major facilitator superfamily domain containing 11							130.0	118.0	122.0					17																	74734467		2203	4300	6503	SO:0001819	synonymous_variant	79157					integral to membrane		g.chr17:74734467C>T	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.33C>T	17.37:g.74734467C>T						MFSD11_ENST00000593181.1_Silent_p.I11I|MFSD11_ENST00000591864.1_Silent_p.I11I|RP11-318A15.7_ENST00000587459.1_3'UTR|MFSD11_ENST00000590514.1_Silent_p.I11I|MFSD11_ENST00000590393.1_Silent_p.I11I|MFSD11_ENST00000586622.1_Silent_p.I11I|MFSD11_ENST00000355954.3_Silent_p.I11I|MFSD11_ENST00000336509.4_Silent_p.I11I	p.I11I	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN			1	2075	+			11					O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	c.33C>T	CCDS11750.1																																																																																				0.502	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1	NM_024311		8	44	0	0	0	1	0	8	44				
PLCB3	5331	broad.mit.edu	37	11	64032844	64032844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:64032844C>T	ENST00000540288.1	+	25	3008	c.2905C>T	c.(2905-2907)Cgg>Tgg	p.R969W	PLCB3_ENST00000279230.6_Missense_Mutation_p.R969W|PLCB3_ENST00000325234.5_Missense_Mutation_p.R902W	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	969					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCTCCGGAGCCGGCAAGAGCG	0.692																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(2905-2907)Cgg>Tgg		phospholipase C, beta 3 (phosphatidylinositol-specific)							15.0	18.0	17.0					11																	64032844		2181	4264	6445	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64032844C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.2905C>T	11.37:g.64032844C>T	ENSP00000443631:p.Arg969Trp					PLCB3_ENST00000325234.5_Missense_Mutation_p.R902W|PLCB3_ENST00000279230.6_Missense_Mutation_p.R969W	p.R969W	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			25	3008	+			969					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.2905C>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090406	0.55968	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.54479	0.57;0.57;0.57	5.2	4.25	0.50352	Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta, conserved site (1);	0.192685	0.43747	D	0.000528	T	0.66096	0.2755	L	0.56769	1.78	0.44825	D	0.997835	D;D	0.89917	0.999;1.0	D;D	0.77004	0.955;0.989	T	0.68503	-0.5391	10	0.87932	D	0	.	11.2187	0.48842	0.1816:0.8184:0.0:0.0	.	902;969	G5E960;Q01970	.;PLCB3_HUMAN	W	969;969;902	ENSP00000279230:R969W;ENSP00000443631:R969W;ENSP00000324660:R902W	ENSP00000279230:R969W	R	+	1	2	PLCB3	63789420	1.000000	0.71417	0.994000	0.49952	0.170000	0.22686	3.355000	0.52262	2.445000	0.82738	0.561000	0.74099	CGG		0.692	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			3	23	0	0	0	1	0	3	23				
VPS13B	157680	broad.mit.edu	37	8	100796680	100796680	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:100796680C>T	ENST00000358544.2	+	43	8103	c.7992C>T	c.(7990-7992)agC>agT	p.S2664S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.S2639S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2664					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACCAGTACAGCTGGCGCTCTC	0.473																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(7990-7992)agC>agT		vacuolar protein sorting 13 homolog B (yeast)							99.0	97.0	98.0					8																	100796680		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100796680C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7992C>T	8.37:g.100796680C>T						VPS13B_ENST00000357162.2_Silent_p.S2639S|VPS13B_ENST00000395996.1_3'UTR	p.S2664S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		43	8103	+	Breast(36;3.73e-07)		2664					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.7992C>T	CCDS6280.1																																																																																				0.473	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		34	133	0	0	0	1	0	34	133				
OR4K2	390431	broad.mit.edu	37	14	20345320	20345320	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:20345320G>T	ENST00000298642.2	+	1	930	c.894G>T	c.(892-894)atG>atT	p.M298I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATAGCCATGAGGAAACTGA	0.343																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(892-894)atG>atT		olfactory receptor, family 4, subfamily K, member 2							75.0	80.0	78.0					14																	20345320		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345320G>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.894G>T	14.37:g.20345320G>T	ENSP00000298642:p.Met298Ile						p.M298I	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	930	+	all_cancers(95;0.00108)		298					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.894G>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	6.268	0.417652	0.11870	.	.	ENSG00000165762	ENST00000298642	T	0.35048	1.33	4.94	1.61	0.23674	.	0.198664	0.35235	N	0.003354	T	0.16557	0.0398	N	0.08118	0	0.26773	N	0.969769	B	0.06786	0.001	B	0.12156	0.007	T	0.13953	-1.0490	10	0.41790	T	0.15	.	6.6383	0.22895	0.5053:0.0:0.4947:0.0	.	298	Q8NGD2	OR4K2_HUMAN	I	298	ENSP00000298642:M298I	ENSP00000298642:M298I	M	+	3	0	OR4K2	19415160	0.009000	0.17119	0.981000	0.43875	0.644000	0.38419	0.217000	0.17603	0.113000	0.18004	-0.229000	0.12294	ATG		0.343	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			15	107	1	0	1.3612e-06	1	1.46887e-06	15	107				
BEST2	54831	broad.mit.edu	37	19	12866735	12866735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:12866735G>A	ENST00000549706.1	+	8	1258	c.934G>A	c.(934-936)Gat>Aat	p.D312N	BEST2_ENST00000042931.1_Missense_Mutation_p.D312N|BEST2_ENST00000553030.1_Missense_Mutation_p.D312N			Q8NFU1	BEST2_HUMAN	bestrophin 2	312					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CTTTCTGATCGATAGAAACTT	0.542																																						ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(934-936)Gat>Aat		bestrophin 2							91.0	97.0	95.0					19																	12866735		2200	4299	6499	SO:0001583	missense	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12866735G>A	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.934G>A	19.37:g.12866735G>A	ENSP00000448310:p.Asp312Asn					BEST2_ENST00000042931.1_Missense_Mutation_p.D312N|BEST2_ENST00000553030.1_Missense_Mutation_p.D312N	p.D312N			Q8NFU1	BEST2_HUMAN			8	1258	+			312					Q53YQ8|Q9NXP0	Missense_Mutation	SNP	ENST00000549706.1	37	c.934G>A	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640620	0.87859	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	D;D;D	0.98876	-5.2;-5.2;-5.2	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.92691	3.335	0.80722	D	1	D	0.65815	0.995	D	0.73708	0.981	D	0.98816	1.0745	10	0.87932	D	0	-33.2673	15.8083	0.78534	0.0:0.0:1.0:0.0	.	312	Q8NFU1	BEST2_HUMAN	N	312	ENSP00000448310:D312N;ENSP00000447203:D312N;ENSP00000042931:D312N	ENSP00000042931:D312N	D	+	1	0	BEST2	12727735	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	9.423000	0.97461	2.250000	0.74265	0.555000	0.69702	GAT		0.542	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		4	70	0	0	0	1	0	4	70				
PKP4	8502	broad.mit.edu	37	2	159433849	159433849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:159433849G>C	ENST00000389759.3	+	3	311	c.199G>C	c.(199-201)Gaa>Caa	p.E67Q	PKP4_ENST00000389757.3_Missense_Mutation_p.E67Q	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	67					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CAGTCAGCTAGAAAGATGTAG	0.478										HNSCC(62;0.18)																												ENST00000389757.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						c.(199-201)Gaa>Caa		plakophilin 4							95.0	78.0	84.0					2																	159433849		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159433849G>C	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.199G>C	2.37:g.159433849G>C	ENSP00000374409:p.Glu67Gln	HNSCC(62;0.18)				PKP4_ENST00000389759.3_Missense_Mutation_p.E67Q	p.E67Q	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN			3	324	+			67					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.199G>C	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311972	0.95655	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;D	0.81499	-1.45;-1.5	5.95	5.95	0.96441	.	0.404056	0.28659	N	0.014562	D	0.88980	0.6585	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.88757	0.3254	10	0.87932	D	0	-14.1523	20.4024	0.99000	0.0:0.0:1.0:0.0	.	67;67	Q99569-2;Q99569	.;PKP4_HUMAN	Q	67	ENSP00000374407:E67Q;ENSP00000374409:E67Q	ENSP00000374407:E67Q	E	+	1	0	PKP4	159142095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.827000	0.97445	0.650000	0.86243	GAA		0.478	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			6	33	0	0	0	1	0	6	33				
MCM2	4171	broad.mit.edu	37	3	127339922	127339922	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:127339922G>T	ENST00000265056.7	+	15	2699	c.2455G>T	c.(2455-2457)Gcc>Tcc	p.A819S	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	819					cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						GCAGACTTTTGCCCGCTACCT	0.547																																						ENST00000265056.7																			0				ovary(3)|skin(2)|stomach(1)	6						c.(2455-2457)Gcc>Tcc		minichromosome maintenance complex component 2							141.0	135.0	137.0					3																	127339922		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127339922G>T	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.2455G>T	3.37:g.127339922G>T	ENSP00000265056:p.Ala819Ser					MCM2_ENST00000468414.1_3'UTR	p.A819S	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			15	2699	+			819					Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.2455G>T	CCDS3043.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.29|10.29	1.308747|1.308747	0.23821|0.23821	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.02369|.	4.32|.	5.38|5.38	2.54|2.54	0.30619|0.30619	.|.	0.202695|.	0.51477|.	N|.	0.000099|.	T|T	0.36331|0.36331	0.0963|0.0963	N|N	0.05351|0.05351	-0.065|-0.065	0.51767|0.51767	D|D	0.999937|0.999937	B;B;B|.	0.28128|.	0.201;0.0;0.0|.	B;B;B|.	0.33960|.	0.173;0.003;0.002|.	T|T	0.05582|0.05582	-1.0876|-1.0876	10|5	0.14252|.	T|.	0.57|.	-21.2239|-21.2239	14.9459|14.9459	0.71032|0.71032	0.0:0.0:0.4895:0.5105|0.0:0.0:0.4895:0.5105	.|.	869;689;819|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	S|F	819;723;869|750	ENSP00000265056:A819S|.	ENSP00000265056:A819S|.	A|L	+|+	1|3	0|2	MCM2|MCM2	128822612|128822612	1.000000|1.000000	0.71417|0.71417	0.808000|0.808000	0.32385|0.32385	0.991000|0.991000	0.79684|0.79684	3.938000|3.938000	0.56583|0.56583	0.225000|0.225000	0.20959|0.20959	-0.282000|-0.282000	0.10007|0.10007	GCC|TTG		0.547	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			18	194	1	0	3.41278e-10	1	3.76787e-10	18	194				
PRSS22	64063	broad.mit.edu	37	16	2903246	2903246	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:2903246C>T	ENST00000161006.3	-	6	867	c.802G>A	c.(802-804)Gag>Aag	p.E268K	PRSS22_ENST00000571228.1_Missense_Mutation_p.E158K|PRSS22_ENST00000574768.1_5'Flank	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	268	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						CTGTTGCGCTCGGCACAGCCC	0.721																																						ENST00000161006.3																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						c.(802-804)Gag>Aag		protease, serine, 22							17.0	19.0	18.0					16																	2903246		2191	4285	6476	SO:0001583	missense	64063				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2903246C>T	AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.802G>A	16.37:g.2903246C>T	ENSP00000161006:p.Glu268Lys					PRSS22_ENST00000571228.1_Missense_Mutation_p.E158K	p.E268K	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN			6	867	-			268			Peptidase S1.		O43342|Q6UXE0	Missense_Mutation	SNP	ENST00000161006.3	37	c.802G>A	CCDS10481.1	.	.	.	.	.	.	.	.	.	.	c	8.718	0.913552	0.17907	.	.	ENSG00000005001	ENST00000161006	D	0.88354	-2.37	4.05	3.08	0.35506	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.144057	0.31566	N	0.007438	T	0.78521	0.4296	N	0.25031	0.7	0.09310	N	0.999999	P	0.38767	0.646	B	0.35655	0.207	T	0.66019	-0.6027	10	0.15499	T	0.54	.	11.7556	0.51874	0.0:0.82:0.18:0.0	.	268	Q9GZN4	BSSP4_HUMAN	K	268	ENSP00000161006:E268K	ENSP00000161006:E268K	E	-	1	0	PRSS22	2843247	0.000000	0.05858	0.992000	0.48379	0.752000	0.42762	-0.054000	0.11826	0.806000	0.34183	0.456000	0.33151	GAG		0.721	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		6	38	0	0	0	1	0	6	38				
SSR2	6746	broad.mit.edu	37	1	155989899	155989899	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:155989899T>A	ENST00000295702.4	-	2	131	c.60A>T	c.(58-60)ggA>ggT	p.G20G	SSR2_ENST00000529008.1_Silent_p.G20G|SSR2_ENST00000496742.1_Silent_p.G20G|SSR2_ENST00000480567.1_Silent_p.G20G	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	20					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAAGCCTGGCTCCTTCCTCTG	0.468																																						ENST00000295702.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10						c.(58-60)ggA>ggT		signal sequence receptor, beta (translocon-associated protein beta)							108.0	100.0	103.0					1																	155989899		2203	4300	6503	SO:0001819	synonymous_variant	6746				cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	g.chr1:155989899T>A	BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.60A>T	1.37:g.155989899T>A						SSR2_ENST00000480567.1_Silent_p.G20G|SSR2_ENST00000496742.1_Silent_p.G20G|SSR2_ENST00000529008.1_Silent_p.G20G	p.G20G	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN			2	131	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		20					B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	ENST00000295702.4	37	c.60A>T	CCDS1126.1																																																																																				0.468	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046172.2	NM_003145		17	60	0	0	0	1	0	17	60				
ZNF280D	54816	broad.mit.edu	37	15	56961080	56961080	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:56961080G>A	ENST00000267807.7	-	14	1702	c.1486C>T	c.(1486-1488)Caa>Taa	p.Q496*	ZNF280D_ENST00000559000.1_Nonsense_Mutation_p.Q483*|ZNF280D_ENST00000396245.1_Nonsense_Mutation_p.Q200*|ZNF280D_ENST00000559237.1_Nonsense_Mutation_p.Q483*	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	496					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(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		CGATGGTGTTGAGTCTTATGA	0.313																																						ENST00000559237.1																			0				endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30						c.(1447-1449)Caa>Taa		zinc finger protein 280D							156.0	146.0	150.0					15																	56961080		2192	4292	6484	SO:0001587	stop_gained	54816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:56961080G>A	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.1486C>T	15.37:g.56961080G>A	ENSP00000267807:p.Gln496*					ZNF280D_ENST00000396245.1_Nonsense_Mutation_p.Q200*|ZNF280D_ENST00000559000.1_Nonsense_Mutation_p.Q483*|ZNF280D_ENST00000267807.7_Nonsense_Mutation_p.Q496*	p.Q483*	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN		all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)	13	2130	-			496					A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Nonsense_Mutation	SNP	ENST00000267807.7	37	c.1447C>T	CCDS32245.1	.	.	.	.	.	.	.	.	.	.	G	37	6.572825	0.97676	.	.	ENSG00000137871	ENST00000267807;ENST00000455329;ENST00000396245	.	.	.	5.4	5.4	0.78164	.	0.222157	0.22320	U	0.061620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.8107	18.1698	0.89742	0.0:0.0:1.0:0.0	.	.	.	.	X	496;483;200	.	ENSP00000267807:Q496X	Q	-	1	0	ZNF280D	54748372	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.515000	0.81761	2.528000	0.85240	0.650000	0.86243	CAA		0.313	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418891.2	XM_370867		11	87	0	0	0	1	0	11	87				
PFKFB4	5210	broad.mit.edu	37	3	48560992	48560992	+	Silent	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:48560992C>G	ENST00000232375.3	-	12	1375	c.1263G>C	c.(1261-1263)ctG>ctC	p.L421L	PFKFB4_ENST00000536104.1_Silent_p.L410L|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000416568.1_Silent_p.L414L|PFKFB4_ENST00000541519.1_Silent_p.L387L|PFKFB4_ENST00000383734.2_Silent_p.L386L	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	421	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAGTCAGCTTCAGGACTGTGT	0.522																																						ENST00000232375.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1261-1263)ctG>ctC		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4							176.0	147.0	157.0					3																	48560992		2203	4300	6503	SO:0001819	synonymous_variant	5210				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	g.chr3:48560992C>G	BC010269	CCDS2771.1	3p22-p21	2004-03-02			ENSG00000114268	ENSG00000114268			8875	protein-coding gene	gene with protein product		605320				8830046, 10095107	Standard	NM_004567		Approved		uc003ctv.3	Q16877	OTTHUMG00000133528	ENST00000232375.3:c.1263G>C	3.37:g.48560992C>G						PFKFB4_ENST00000383734.2_Silent_p.L386L|PFKFB4_ENST00000416568.1_Silent_p.L414L|PFKFB4_ENST00000541519.1_Silent_p.L387L|PFKFB4_ENST00000536104.1_Silent_p.L410L|PFKFB4_ENST00000490115.1_5'UTR	p.L421L	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	12	1375	-			421			Fructose-2,6-bisphosphatase.		Q5S3G5|Q5XLC2|Q64EX5	Silent	SNP	ENST00000232375.3	37	c.1263G>C	CCDS2771.1																																																																																				0.522	PFKFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257503.2	NM_004567		10	69	0	0	0	1	0	10	69				
GPR111	222611	broad.mit.edu	37	6	47646751	47646751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:47646751C>T	ENST00000296862.1	+	4	352	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	GPR111_ENST00000398742.2_Nonsense_Mutation_p.Q50*|GPR111_ENST00000507065.1_Nonsense_Mutation_p.Q50*			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	118					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGACTACTCCCAGTGTACTCA	0.512																																						ENST00000398742.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(148-150)Cag>Tag		G protein-coupled receptor 111							138.0	131.0	134.0					6																	47646751		1960	4169	6129	SO:0001587	stop_gained	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47646751C>T	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.352C>T	6.37:g.47646751C>T	ENSP00000296862:p.Gln118*					GPR111_ENST00000507065.1_Nonsense_Mutation_p.Q50*|GPR111_ENST00000296862.1_Nonsense_Mutation_p.Q118*	p.Q50*			Q8IZF7	GP111_HUMAN			3	197	+			118					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Nonsense_Mutation	SNP	ENST00000296862.1	37	c.148C>T		.	.	.	.	.	.	.	.	.	.	C	19.46	3.831893	0.71258	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	.	.	.	4.69	0.711	0.18162	.	1.079980	0.07258	N	0.866922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	7.8983	0.29719	0.0:0.6058:0.0:0.3942	.	.	.	.	X	50;118;50	.	ENSP00000296862:Q118X	Q	+	1	0	GPR111	47754710	0.003000	0.15002	0.002000	0.10522	0.048000	0.14542	0.880000	0.28159	0.249000	0.21456	-0.163000	0.13421	CAG		0.512	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		17	81	0	0	0	1	0	17	81				
ASXL1	171023	broad.mit.edu	37	20	31023178	31023178	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:31023178A>G	ENST00000375687.4	+	13	3087	c.2663A>G	c.(2662-2664)aAg>aGg	p.K888R	ASXL1_ENST00000306058.5_Missense_Mutation_p.K883R	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	888					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTGAAAACCAAGGCTCTCGTT	0.448			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2662-2664)aAg>aGg		additional sex combs like 1 (Drosophila)							125.0	125.0	125.0					20																	31023178		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023178A>G	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2663A>G	20.37:g.31023178A>G	ENSP00000364839:p.Lys888Arg					ASXL1_ENST00000306058.5_Missense_Mutation_p.K883R	p.K888R	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	3087	+			888					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.2663A>G	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.580918	0.28180	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14391	2.51;2.51	4.87	4.87	0.63330	.	0.811973	0.11720	N	0.536017	T	0.08537	0.0212	N	0.14661	0.345	0.09310	N	1	B;B	0.26672	0.067;0.156	B;B	0.19666	0.018;0.026	T	0.15378	-1.0439	10	0.56958	D	0.05	-9.6298	7.871	0.29565	0.8604:0.0:0.1396:0.0	.	883;888	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	R	888;888;888;809;883	ENSP00000364839:K888R;ENSP00000305119:K883R	ENSP00000305119:K883R	K	+	2	0	ASXL1	30486839	0.427000	0.25514	0.110000	0.21437	0.507000	0.33981	3.948000	0.56660	2.179000	0.69175	0.528000	0.53228	AAG		0.448	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		34	162	0	0	0	1	0	34	162				
THOC5	8563	broad.mit.edu	37	22	29913096	29913096	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:29913096A>G	ENST00000490103.1	-	17	1725	c.1603T>C	c.(1603-1605)Ttc>Ctc	p.F535L	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.F535L|THOC5_ENST00000397872.1_Missense_Mutation_p.F535L|THOC5_ENST00000397873.2_Missense_Mutation_p.F535L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	535					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTTTGGTGAAGTGCAGCTCC	0.537																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1603-1605)Ttc>Ctc		THO complex 5							146.0	135.0	139.0					22																	29913096		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29913096A>G	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1603T>C	22.37:g.29913096A>G	ENSP00000420306:p.Phe535Leu					CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.F535L|THOC5_ENST00000397872.1_Missense_Mutation_p.F535L|THOC5_ENST00000397873.2_Missense_Mutation_p.F535L	p.F535L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			17	1725	-			535					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1603T>C	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732639	0.48939	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.66	5.66	0.87406	.	0.099447	0.64402	D	0.000001	T	0.16342	0.0393	L	0.29908	0.895	0.48511	D	0.999667	B	0.17038	0.02	B	0.16722	0.016	T	0.07673	-1.0760	10	0.11485	T	0.65	-13.6003	15.5678	0.76306	1.0:0.0:0.0:0.0	.	535	Q13769	THOC5_HUMAN	L	535	ENSP00000420306:F535L;ENSP00000380970:F535L;ENSP00000380969:F535L;ENSP00000380971:F535L	ENSP00000380969:F535L	F	-	1	0	THOC5	28243096	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.987000	0.93497	2.161000	0.67846	0.533000	0.62120	TTC		0.537	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		10	78	0	0	0	1	0	10	78				
FNDC1	84624	broad.mit.edu	37	6	159655365	159655365	+	Missense_Mutation	SNP	G	G	T	rs182692927	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:159655365G>T	ENST00000297267.9	+	11	4021	c.3821G>T	c.(3820-3822)gGc>gTc	p.G1274V	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1211V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1274					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCGTCGCGGGCACCCACCCC	0.706													G|||	10	0.00199681	0.0076	0.0	5008	,	,		12022	0.0		0.0	False		,,,				2504	0.0					ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3820-3822)gGc>gTc		fibronectin type III domain containing 1		G	VAL/GLY	18,3966		0,18,1974	13.0	15.0	14.0		3821	1.9	0.0	6		14	0,8206		0,0,4103	no	missense	FNDC1	NM_032532.2	109	0,18,6077	TT,TG,GG		0.0,0.4518,0.1477	probably-damaging	1274/1895	159655365	18,12172	1992	4103	6095	SO:0001583	missense	84624					extracellular region		g.chr6:159655365G>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3821G>T	6.37:g.159655365G>T	ENSP00000297267:p.Gly1274Val					FNDC1_ENST00000340366.6_Missense_Mutation_p.G1211V	p.G1274V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	4021	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1274					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.3821G>T	CCDS47512.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	11.87	1.766411	0.31228	0.004518	0.0	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.07327	3.2;4.0	4.78	1.94	0.25998	.	1.961160	0.02143	N	0.057340	T	0.01730	0.0055	L	0.27053	0.805	0.09310	N	1	B;B	0.32160	0.358;0.139	B;B	0.31101	0.124;0.058	T	0.43686	-0.9376	10	0.17832	T	0.49	-4.2323	5.6124	0.17412	0.1742:0.3086:0.5171:0.0	.	1211;1274	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	V	1274;1211	ENSP00000297267:G1274V;ENSP00000342460:G1211V	ENSP00000297267:G1274V	G	+	2	0	FNDC1	159575355	0.002000	0.14202	0.004000	0.12327	0.001000	0.01503	0.225000	0.17757	0.081000	0.16988	-0.182000	0.12963	GGC		0.706	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		3	21	1	0	0.115264	1	0.115871	3	21				
UBA52	7311	broad.mit.edu	37	19	18684147	18684147	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:18684147A>G	ENST00000442744.2	+	2	95	c.37A>G	c.(37-39)Atc>Gtc	p.I13V	CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000598780.1_Missense_Mutation_p.I13V|UBA52_ENST00000596273.1_Missense_Mutation_p.I13V|UBA52_ENST00000430157.2_Missense_Mutation_p.I13V|UBA52_ENST00000596304.1_Missense_Mutation_p.I13V|UBA52_ENST00000597451.1_Missense_Mutation_p.I13V|UBA52_ENST00000599551.1_Missense_Mutation_p.I13V|UBA52_ENST00000595158.1_Missense_Mutation_p.I13V|UBA52_ENST00000595683.1_Missense_Mutation_p.I13V|UBA52_ENST00000599595.1_Missense_Mutation_p.I13V	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	13	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|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 epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|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 initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						TGGCAAAACCATCACCCTTGA	0.537																																						ENST00000442744.2																			0				endometrium(1)|large_intestine(2)	3						c.(37-39)Atc>Gtc		ubiquitin A-52 residue ribosomal protein fusion product 1							86.0	71.0	76.0					19																	18684147		2203	4300	6503	SO:0001583	missense	7311				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome	g.chr19:18684147A>G		CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.37A>G	19.37:g.18684147A>G	ENSP00000388107:p.Ile13Val					UBA52_ENST00000598780.1_Missense_Mutation_p.I13V|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000599551.1_Missense_Mutation_p.I13V|UBA52_ENST00000599595.1_Missense_Mutation_p.I13V|UBA52_ENST00000596304.1_Missense_Mutation_p.I13V|UBA52_ENST00000596273.1_Missense_Mutation_p.I13V|UBA52_ENST00000430157.2_Missense_Mutation_p.I13V|UBA52_ENST00000595158.1_Missense_Mutation_p.I13V|UBA52_ENST00000595683.1_Missense_Mutation_p.I13V|UBA52_ENST00000597451.1_Missense_Mutation_p.I13V	p.I13V	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN			2	95	+			13			Ubiquitin-like.		P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000442744.2	37	c.37A>G	CCDS12382.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.866254	0.71949	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.75050	-0.9;-0.9	4.91	4.91	0.64330	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.83547	0.5278	M	0.72894	2.215	0.80722	D	1	D	0.58620	0.983	D	0.71184	0.972	D	0.83516	0.0083	10	0.41790	T	0.15	-2.1882	12.4937	0.55916	1.0:0.0:0.0:0.0	.	13	P62987	RL40_HUMAN	V	13	ENSP00000388107:I13V;ENSP00000396910:I13V	ENSP00000396910:I13V	I	+	1	0	UBA52	18545147	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.013000	0.93629	1.846000	0.53633	0.379000	0.24179	ATC		0.537	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2	NM_003333		7	47	0	0	0	1	0	7	47				
SPEN	23013	broad.mit.edu	37	1	16257103	16257103	+	Silent	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:16257103A>G	ENST00000375759.3	+	11	4572	c.4368A>G	c.(4366-4368)tcA>tcG	p.S1456S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1456					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTCTCTTCATCTCGTGAAG	0.368																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(4366-4368)tcA>tcG		spen family transcriptional repressor							74.0	78.0	77.0					1																	16257103		2202	4300	6502	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257103A>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4368A>G	1.37:g.16257103A>G							p.S1456S	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	4572	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1456					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.4368A>G	CCDS164.1																																																																																				0.368	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		13	114	0	0	0	1	0	13	114				
DSP	1832	broad.mit.edu	37	6	7581448	7581448	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7581448C>T	ENST00000379802.3	+	23	5366	c.5025C>T	c.(5023-5025)gtC>gtT	p.V1675V	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1675	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGAAAGTGTCAAACAAGCTC	0.493																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(5023-5025)gtC>gtT		desmoplakin							98.0	106.0	103.0					6																	7581448		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581448C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5025C>T	6.37:g.7581448C>T						DSP_ENST00000418664.2_Intron	p.V1675V	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	5366	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1675			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.5025C>T	CCDS4501.1																																																																																				0.493	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		13	145	0	0	0	1	0	13	145				
TLN2	83660	broad.mit.edu	37	15	62939604	62939604	+	Missense_Mutation	SNP	G	G	A	rs554667095		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:62939604G>A	ENST00000561311.1	+	3	325	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	TLN2_ENST00000306829.6_Missense_Mutation_p.R32Q|RP11-625H11.1_ENST00000558940.1_5'Flank|RP11-625H11.1_ENST00000560347.1_5'Flank			Q9Y4G6	TLN2_HUMAN	talin 2	32					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATGCGTGTCGAGTCATTCGG	0.473																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(94-96)cGa>cAa		talin 2							214.0	193.0	200.0					15																	62939604		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62939604G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.95G>A	15.37:g.62939604G>A	ENSP00000453508:p.Arg32Gln					TLN2_ENST00000306829.6_Missense_Mutation_p.R32Q	p.R32Q			Q9Y4G6	TLN2_HUMAN			3	325	+			32					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.95G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441490	0.83993	.	.	ENSG00000171914	ENST00000306829	T	0.68479	-0.33	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78386	-0.2224	10	0.41790	T	0.15	-8.4855	18.7456	0.91791	0.0:0.0:1.0:0.0	.	32	Q9Y4G6	TLN2_HUMAN	Q	32	ENSP00000303476:R32Q	ENSP00000303476:R32Q	R	+	2	0	TLN2	60726896	1.000000	0.71417	0.996000	0.52242	0.160000	0.22226	9.803000	0.99136	2.748000	0.94277	0.655000	0.94253	CGA		0.473	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			15	175	0	0	0	1	0	15	175				
SATB2	23314	broad.mit.edu	37	2	200245204	200245204	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:200245204T>A	ENST00000417098.1	-	5	1296	c.480A>T	c.(478-480)tcA>tcT	p.S160S	SATB2_ENST00000428695.1_Intron|SATB2_ENST00000457245.1_Silent_p.S160S|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Silent_p.S160S|SATB2_ENST00000443023.1_Silent_p.S101S	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	160					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCCAACTTTGAACAACTGC	0.483																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(301-303)tcA>tcT		SATB homeobox 2							90.0	79.0	83.0					2																	200245204		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200245204T>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.480A>T	2.37:g.200245204T>A						SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Silent_p.S160S|SATB2_ENST00000457245.1_Silent_p.S160S|SATB2_ENST00000417098.1_Silent_p.S160S|SATB2_ENST00000428695.1_Intron	p.S101S			Q9UPW6	SATB2_HUMAN			4	1768	-			160					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.303A>T	CCDS2327.1																																																																																				0.483	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		8	84	0	0	0	1	0	8	84				
DNAH11	8701	broad.mit.edu	37	7	21747407	21747407	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:21747407C>G	ENST00000409508.3	+	40	6668	c.6637C>G	c.(6637-6639)Ctc>Gtc	p.L2213V	DNAH11_ENST00000328843.6_Missense_Mutation_p.L2220V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2220	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACAGATGAACTCTTTGGTTT	0.393									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(6658-6660)Ctc>Gtc		dynein, axonemal, heavy chain 11							84.0	81.0	82.0					7																	21747407		1861	4100	5961	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21747407C>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6637C>G	7.37:g.21747407C>G	ENSP00000475939:p.Leu2213Val					DNAH11_ENST00000409508.3_Missense_Mutation_p.L2213V	p.L2220V			Q96DT5	DYH11_HUMAN			41	6689	+			2220			AAA 2 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.6658C>G		.	.	.	.	.	.	.	.	.	.	C	23.7	4.444659	0.83993	.	.	ENSG00000105877	ENST00000328843	T	0.63580	-0.05	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.81870	0.4914	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.82502	-0.0425	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	2220	Q96DT5	DYH11_HUMAN	V	2220	ENSP00000330671:L2220V	ENSP00000330671:L2220V	L	+	1	0	DNAH11	21713932	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.957000	0.63652	2.941000	0.99782	0.655000	0.94253	CTC		0.393	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	38	0	0	0	1	0	4	38				
EMID1	129080	broad.mit.edu	37	22	29627077	29627077	+	Silent	SNP	G	G	T	rs376315194		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:29627077G>T	ENST00000404820.3	+	6	661	c.534G>T	c.(532-534)ccG>ccT	p.P178P	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000334018.6_Silent_p.P178P|EMID1_ENST00000404755.3_Silent_p.P178P			Q96A84	EMID1_HUMAN	EMI domain containing 1	176						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						ACCCTGCCCCGCTCTGGGGTC	0.637																																						ENST00000334018.6																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						c.(532-534)ccG>ccT		EMI domain containing 1		G		0,4406		0,0,2203	60.0	60.0	60.0		534	-9.9	0.0	22		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EMID1	NM_133455.2		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		178/444	29627077	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	129080					collagen		g.chr22:29627077G>T	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.534G>T	22.37:g.29627077G>T						EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404820.3_Silent_p.P178P|EMID1_ENST00000404755.3_Silent_p.P178P	p.P178P	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN			6	722	+			176					B0QYK6|Q6ICG1|Q86SS7	Silent	SNP	ENST00000404820.3	37	c.534G>T		.	.	.	.	.	.	.	.	.	.	G	5.454	0.268864	0.10349	0.0	1.16E-4	ENSG00000186998	ENST00000433143	.	.	.	4.95	-9.9	0.00461	.	.	.	.	.	T	0.21022	0.0506	.	.	.	0.29805	N	0.832094	.	.	.	.	.	.	T	0.14980	-1.0453	4	.	.	.	0.0	4.5236	0.11971	0.5932:0.1042:0.1978:0.1048	.	.	.	.	L	24	.	.	R	+	2	0	EMID1	27957077	0.000000	0.05858	0.031000	0.17742	0.048000	0.14542	-1.444000	0.02403	-1.728000	0.01366	-0.306000	0.09157	CGC		0.637	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321075.1	NM_133455		9	85	1	0	1.58986e-06	1	1.70598e-06	9	85				
SERPINA4	5267	broad.mit.edu	37	14	95030432	95030432	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:95030432G>A	ENST00000557004.1	+	2	1034	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	SERPINA4_ENST00000298841.5_Missense_Mutation_p.V205I|SERPINA4_ENST00000555095.1_Missense_Mutation_p.V205I|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	205					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V205F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CAAGAAGGACGTCTTGATGGT	0.458																																						ENST00000557004.1																			1	Substitution - Missense(1)	p.V205F(1)	lung(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46						c.(613-615)Gtc>Atc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4							152.0	143.0	146.0					14																	95030432		2202	4300	6502	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030432G>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.613G>A	14.37:g.95030432G>A	ENSP00000450838:p.Val205Ile					SERPINA4_ENST00000555095.1_Missense_Mutation_p.V205I|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.V205I	p.V205I			P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	1034	+			205					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.613G>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294374	0.23564	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84298	-1.83;-1.83;-1.83	4.41	-1.61	0.08399	Serpin domain (3);	2.428210	0.03122	N	0.163875	T	0.65801	0.2726	N	0.03608	-0.345	0.09310	N	1	B;B	0.29805	0.017;0.257	B;B	0.23150	0.01;0.044	T	0.59947	-0.7358	10	0.52906	T	0.07	.	4.3502	0.11151	0.4731:0.0:0.372:0.1549	.	205;205	B2R815;P29622	.;KAIN_HUMAN	I	205	ENSP00000450838:V205I;ENSP00000451172:V205I;ENSP00000298841:V205I	ENSP00000298841:V205I	V	+	1	0	SERPINA4	94100185	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	1.587000	0.36622	-0.066000	0.12998	-1.105000	0.02106	GTC		0.458	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		15	209	0	0	0	1	0	15	209				
ID2	3398	broad.mit.edu	37	2	8822625	8822625	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:8822625C>T	ENST00000234091.4	+	3	1190	c.330C>T	c.(328-330)atC>atT	p.I110I	AC011747.7_ENST00000455965.1_RNA|ID2_ENST00000331129.3_Silent_p.I110I|ID2_ENST00000396290.1_Silent_p.I110I			Q02363	ID2_HUMAN	inhibitor of DNA binding 2, dominant negative helix-loop-helix protein	110					adipose tissue development (GO:0060612)|bundle of His development (GO:0003166)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|embryonic digestive tract morphogenesis (GO:0048557)|endodermal digestive tract morphogenesis (GO:0061031)|entrainment of circadian clock by photoperiod (GO:0043153)|enucleate erythrocyte differentiation (GO:0043353)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|locomotor rhythm (GO:0045475)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|membranous septum morphogenesis (GO:0003149)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|natural killer cell differentiation (GO:0001779)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of DNA binding (GO:0043392)|negative regulation of gene expression (GO:0010629)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate commitment (GO:0048663)|olfactory bulb development (GO:0021772)|oligodendrocyte development (GO:0014003)|Peyer's patch development (GO:0048541)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of lipid metabolic process (GO:0019216)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	ion channel binding (GO:0044325)			breast(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACACGGATATCAGCATCCTGT	0.652																																						ENST00000234091.4																			0				breast(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(328-330)atC>atT		inhibitor of DNA binding 2, dominant negative helix-loop-helix protein							41.0	47.0	45.0					2																	8822625		2202	4300	6502	SO:0001819	synonymous_variant	3398				cellular senescence|embryonic digestive tract morphogenesis|endodermal digestive tract morphogenesis|epithelial cell differentiation involved in mammary gland alveolus development|mammary gland epithelial cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of neuron differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|neuron fate commitment|positive regulation of blood pressure|positive regulation of cell cycle arrest|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent	protein complex	protein binding	g.chr2:8822625C>T		CCDS1659.1	2p25	2013-05-21			ENSG00000115738	ENSG00000115738		"""Basic helix-loop-helix proteins"""	5361	protein-coding gene	gene with protein product	"""cell growth-inhibiting gene 8"""	600386				8294468	Standard	NM_002166		Approved	GIG8, bHLHb26	uc002qza.3	Q02363	OTTHUMG00000112454	ENST00000234091.4:c.330C>T	2.37:g.8822625C>T						ID2_ENST00000396290.1_Silent_p.I110I|ID2_ENST00000331129.3_Silent_p.I110I	p.I110I			Q02363	ID2_HUMAN			3	1190	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		110						Silent	SNP	ENST00000234091.4	37	c.330C>T	CCDS1659.1																																																																																				0.652	ID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000231925.2	NM_002166		5	67	0	0	0	1	0	5	67				
CCDC8	83987	broad.mit.edu	37	19	46915167	46915167	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr19:46915167C>T	ENST00000307522.3	-	1	1674	c.901G>A	c.(901-903)Gat>Aat	p.D301N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	301					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTTGACTATCTGCAGCCTCT	0.627																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(901-903)Gat>Aat		coiled-coil domain containing 8							86.0	86.0	86.0					19																	46915167		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46915167C>T	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.901G>A	19.37:g.46915167C>T	ENSP00000303158:p.Asp301Asn						p.D301N	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1674	-			301					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.901G>A	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132123	0.56828	.	.	ENSG00000169515	ENST00000307522	T	0.11930	2.73	2.73	2.73	0.32206	.	1.008340	0.07982	N	0.985707	T	0.13927	0.0337	L	0.55481	1.735	0.09310	N	1	P	0.36837	0.571	B	0.33295	0.161	T	0.16424	-1.0403	10	0.18276	T	0.48	-0.6592	11.6139	0.51078	0.0:1.0:0.0:0.0	.	301	Q9H0W5	CCDC8_HUMAN	N	301	ENSP00000303158:D301N	ENSP00000303158:D301N	D	-	1	0	CCDC8	51607007	0.000000	0.05858	0.018000	0.16275	0.058000	0.15608	0.046000	0.14035	1.809000	0.52856	0.561000	0.74099	GAT		0.627	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		12	186	0	0	0	1	0	12	186				
DSP	1832	broad.mit.edu	37	6	7566626	7566626	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7566626T>C	ENST00000379802.3	+	8	1297	c.956T>C	c.(955-957)cTg>cCg	p.L319P	DSP_ENST00000418664.2_Missense_Mutation_p.L319P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	319	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGAGTCAACTGGAAGTTAAA	0.378																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(955-957)cTg>cCg		desmoplakin							115.0	112.0	113.0					6																	7566626		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7566626T>C	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.956T>C	6.37:g.7566626T>C	ENSP00000369129:p.Leu319Pro					DSP_ENST00000418664.2_Missense_Mutation_p.L319P	p.L319P	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	8	1297	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	319			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.956T>C	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484643	0.84854	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;D	0.87029	-0.4;-2.2	5.4	5.4	0.78164	.	0.000000	0.48286	D	0.000185	D	0.93090	0.7800	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94271	0.7511	10	0.87932	D	0	.	15.7287	0.77784	0.0:0.0:0.0:1.0	.	366;319	Q4LE79;P15924	.;DESP_HUMAN	P	319;319;124	ENSP00000369129:L319P;ENSP00000396591:L319P	ENSP00000369129:L319P	L	+	2	0	DSP	7511625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.310000	0.78947	2.168000	0.68352	0.533000	0.62120	CTG		0.378	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		15	59	0	0	0	1	0	15	59				
PDZRN4	29951	broad.mit.edu	37	12	41966576	41966576	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:41966576G>C	ENST00000402685.2	+	10	2003	c.1995G>C	c.(1993-1995)gaG>gaC	p.E665D	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E405D|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E407D	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	665							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGGAGCATGAGCTACAGTTGC	0.443																																						ENST00000298919.7																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1213-1215)gaG>gaC		PDZ domain containing ring finger 4							122.0	108.0	113.0					12																	41966576		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966576G>C	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1995G>C	12.37:g.41966576G>C	ENSP00000384197:p.Glu665Asp					PDZRN4_ENST00000402685.2_Missense_Mutation_p.E665D|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E407D	p.E405D			Q6ZMN7	PZRN4_HUMAN			10	1603	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	665			PDZ 2.		Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1215G>C	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721922	0.48728	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	D;T;T	0.81821	-1.54;3.0;2.99	4.49	0.341	0.15991	.	0.000000	0.64402	D	0.000001	D	0.87006	0.6070	M	0.78456	2.415	0.53005	D	0.99996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;1.0	D	0.84972	0.0883	10	0.72032	D	0.01	-32.989	9.3391	0.38069	0.4727:0.0:0.5273:0.0	.	665;405;407	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	D	665;407;405	ENSP00000384197:E665D;ENSP00000439990:E407D;ENSP00000298919:E405D	ENSP00000298919:E405D	E	+	3	2	PDZRN4	40252843	1.000000	0.71417	0.941000	0.38009	0.901000	0.52897	3.568000	0.53820	-0.041000	0.13558	-0.157000	0.13467	GAG		0.443	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		10	87	0	0	0	1	0	10	87				
KCNJ4	3761	broad.mit.edu	37	22	38824021	38824021	+	Silent	SNP	C	C	T	rs371561137	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:38824021C>T	ENST00000303592.3	-	2	375	c.117G>A	c.(115-117)tcG>tcA	p.S39S	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	39					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGTAGCGCTGCGACTTGTTGC	0.612													C|||	3	0.000599042	0.0008	0.0	5008	,	,		19405	0.0		0.0	False		,,,				2504	0.002					ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(115-117)tcG>tcA		potassium inwardly-rectifying channel, subfamily J, member 4		C	,	0,4406		0,0,2203	319.0	237.0	265.0		117,117	-5.1	1.0	22		265	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	KCNJ4	NM_004981.1,NM_152868.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	39/446,39/446	38824021	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38824021C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.117G>A	22.37:g.38824021C>T							p.S39S	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	375	-	Melanoma(58;0.0286)		39					Q14D44	Silent	SNP	ENST00000303592.3	37	c.117G>A	CCDS13971.1																																																																																				0.612	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		55	282	0	0	0	1	0	55	282				
FRMD5	84978	broad.mit.edu	37	15	44202113	44202113	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:44202113C>T	ENST00000417257.1	-	5	570	c.394G>A	c.(394-396)Gat>Aat	p.D132N	FRMD5_ENST00000402883.1_Missense_Mutation_p.D132N|FRMD5_ENST00000484674.1_Missense_Mutation_p.D43N	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	132	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		AAGGCAGCATCCGATGTTTTA	0.388											OREG0003950	type=REGULATORY REGION|Gene=FRMD5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000417257.1																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(394-396)Gat>Aat		FERM domain containing 5							65.0	57.0	59.0					15																	44202113		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44202113C>T	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.394G>A	15.37:g.44202113C>T	ENSP00000403067:p.Asp132Asn		OREG0003950	type=REGULATORY REGION|Gene=FRMD5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	922	FRMD5_ENST00000484674.1_Missense_Mutation_p.D43N|FRMD5_ENST00000402883.1_Missense_Mutation_p.D132N	p.D132N	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	5	570	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	132			FERM.		Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.394G>A	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	35	5.431315	0.96150	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	T;T;T	0.78003	-1.14;-1.14;-1.14	5.78	5.78	0.91487	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.87132	0.6101	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.87120	0.2190	10	0.62326	D	0.03	.	18.5762	0.91155	0.0:1.0:0.0:0.0	.	132;132	Q7Z6J6;B5MC67	FRMD5_HUMAN;.	N	132;132;98	ENSP00000403067:D132N;ENSP00000384142:D132N;ENSP00000399684:D98N	ENSP00000384142:D132N	D	-	1	0	FRMD5	41989405	1.000000	0.71417	0.969000	0.41365	0.946000	0.59487	7.784000	0.85713	2.749000	0.94314	0.655000	0.94253	GAT		0.388	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892		15	53	0	0	0	1	0	15	53				
PLSCR4	57088	broad.mit.edu	37	3	145913005	145913005	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:145913005G>A	ENST00000354952.2	-	8	1091	c.851C>T	c.(850-852)tCa>tTa	p.S284L	PLSCR4_ENST00000383083.2_Missense_Mutation_p.S194L|PLSCR4_ENST00000446574.2_Missense_Mutation_p.S284L|PLSCR4_ENST00000433593.2_Missense_Mutation_p.S179L|PLSCR4_ENST00000493382.1_Missense_Mutation_p.S284L	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	284					cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGCCATTGCTGATAACAAACC	0.423																																						ENST00000354952.2																			0				kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						c.(850-852)tCa>tTa		phospholipid scramblase 4							180.0	147.0	158.0					3																	145913005		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145913005G>A	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.851C>T	3.37:g.145913005G>A	ENSP00000347038:p.Ser284Leu					PLSCR4_ENST00000446574.2_Missense_Mutation_p.S284L|PLSCR4_ENST00000383083.2_Missense_Mutation_p.S194L|PLSCR4_ENST00000493382.1_Missense_Mutation_p.S284L|PLSCR4_ENST00000433593.2_Missense_Mutation_p.S179L	p.S284L	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN			8	1091	-			284					A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.851C>T	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099745	0.37048	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000433593;ENST00000446574;ENST00000493382	T;T;T;T;T	0.32515	1.45;1.94;1.94;1.45;1.45	4.75	2.79	0.32731	.	0.485779	0.17706	N	0.164755	T	0.38532	0.1044	L	0.43152	1.355	0.09310	N	1	P;D	0.56968	0.801;0.978	B;P	0.60236	0.339;0.871	T	0.06679	-1.0813	10	0.62326	D	0.03	.	7.353	0.26703	0.0:0.29:0.4377:0.2723	.	194;284	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	L	284;194;179;284;284	ENSP00000347038:S284L;ENSP00000372561:S194L;ENSP00000415605:S179L;ENSP00000399315:S284L;ENSP00000419040:S284L	ENSP00000347038:S284L	S	-	2	0	PLSCR4	147395695	0.137000	0.22531	0.003000	0.11579	0.001000	0.01503	2.618000	0.46393	1.336000	0.45506	-0.274000	0.10170	TCA		0.423	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		21	111	0	0	0	1	0	21	111				
AP1G1	164	broad.mit.edu	37	16	71783838	71783838	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:71783838G>A	ENST00000299980.4	-	15	1897	c.1456C>T	c.(1456-1458)Ctt>Ttt	p.L486F	AP1G1_ENST00000569748.1_Missense_Mutation_p.L486F|AP1G1_ENST00000433195.2_Missense_Mutation_p.L509F|AP1G1_ENST00000393512.3_Missense_Mutation_p.L489F|AP1G1_ENST00000423132.2_Missense_Mutation_p.L489F|AP1G1_ENST00000564155.1_5'Flank	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	486					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GATACAAGAAGATCACCATAT	0.408																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(1456-1458)Ctt>Ttt		adaptor-related protein complex 1, gamma 1 subunit							204.0	196.0	199.0					16																	71783838		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71783838G>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1456C>T	16.37:g.71783838G>A	ENSP00000299980:p.Leu486Phe					AP1G1_ENST00000393512.3_Missense_Mutation_p.L489F|AP1G1_ENST00000569748.1_Missense_Mutation_p.L486F|AP1G1_ENST00000423132.2_Missense_Mutation_p.L489F|AP1G1_ENST00000433195.2_Missense_Mutation_p.L509F	p.L486F	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			15	1897	-		Ovarian(137;0.125)	486					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.1456C>T	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218084	0.79352	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.3	5.3	0.74995	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.88031	2.925	0.80722	D	1	B;B;B	0.27656	0.164;0.184;0.156	B;B;B	0.34385	0.181;0.129;0.079	T	0.22452	-1.0216	10	0.62326	D	0.03	-8.7209	18.9594	0.92671	0.0:0.0:1.0:0.0	.	486;509;489	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	F	486;489;489;509	ENSP00000299980:L486F;ENSP00000377148:L489F;ENSP00000409153:L489F;ENSP00000403259:L509F	ENSP00000299980:L486F	L	-	1	0	AP1G1	70341339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.383000	0.97214	2.488000	0.83962	0.555000	0.69702	CTT		0.408	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			38	269	0	0	0	1	0	38	269				
HIP1	3092	broad.mit.edu	37	7	75171237	75171237	+	Splice_Site	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:75171237C>T	ENST00000336926.6	-	29	2979		c.e29+1		HIP1_ENST00000434438.2_Splice_Site	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGAGCTCTCACCTGAGAATCC	0.443			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e29+1		huntingtin interacting protein 1							155.0	140.0	145.0					7																	75171237		2203	4300	6503	SO:0001630	splice_region_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75171237C>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2952+1G>A	7.37:g.75171237C>T						HIP1_ENST00000434438.2_Splice_Site		NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			29	2979	-								B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Splice_Site	SNP	ENST00000336926.6	37		CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.064339	0.76187	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.973	0.86305	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HIP1	75009173	1.000000	0.71417	0.996000	0.52242	0.754000	0.42855	7.081000	0.76844	2.334000	0.79466	0.563000	0.77884	.		0.443	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338	Intron	14	94	0	0	0	1	0	14	94				
CASKIN1	57524	broad.mit.edu	37	16	2236796	2236796	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:2236796C>A	ENST00000343516.6	-	10	1052	c.960G>T	c.(958-960)tgG>tgT	p.W320C	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	320	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGCAGCCCTTCCACCGGCCAT	0.662																																						ENST00000343516.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						c.(958-960)tgG>tgT		CASK interacting protein 1							34.0	38.0	36.0					16																	2236796		2032	4162	6194	SO:0001583	missense	57524				signal transduction	cytoplasm		g.chr16:2236796C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.960G>T	16.37:g.2236796C>A	ENSP00000345436:p.Trp320Cys						p.W320C	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN			10	1052	-			320			SH3.		Q9P2P0	Missense_Mutation	SNP	ENST00000343516.6	37	c.960G>T	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408657	0.83340	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.13196	2.61	4.65	4.65	0.58169	Src homology-3 domain (3);Variant SH3 (1);	.	.	.	.	T	0.37758	0.1015	M	0.73319	2.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.17471	-1.0368	9	0.87932	D	0	-15.9847	16.6164	0.84917	0.0:1.0:0.0:0.0	.	320	Q8WXD9	CSKI1_HUMAN	C	320;149	ENSP00000345436:W320C	ENSP00000345436:W320C	W	-	3	0	CASKIN1	2176797	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.855000	0.69510	2.577000	0.86979	0.563000	0.77884	TGG		0.662	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764		11	52	1	0	0.010729	1	0.0109002	11	52				
SPON1	10418	broad.mit.edu	37	11	14277228	14277228	+	RNA	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:14277228C>A	ENST00000310358.7	+	0	1663							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGGAGAAAATCCGGCCCCTGA	0.488																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							101.0	107.0	105.0					11																	14277228		1838	4090	5928			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14277228C>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14277228C>A										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1663	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37																																																																																						0.488	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		19	114	1	0	7.21436e-19	1	8.30086e-19	19	114				
KIAA1429	25962	broad.mit.edu	37	8	95539335	95539335	+	Silent	SNP	G	G	A	rs563314504	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:95539335G>A	ENST00000297591.5	-	8	1212	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	KIAA1429_ENST00000421249.2_Silent_p.I379I|KIAA1429_ENST00000437199.1_Silent_p.I379I	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	379					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I379I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTGAGGCTTCGATTGCCCCTG	0.343													G|||	2	0.000399361	0.0	0.0029	5008	,	,		19534	0.0		0.0	False		,,,				2504	0.0					ENST00000297591.5																			1	Substitution - coding silent(1)	p.I379I(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(1135-1137)atC>atT		KIAA1429							145.0	149.0	147.0					8																	95539335		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95539335G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.1137C>T	8.37:g.95539335G>A						KIAA1429_ENST00000437199.1_Silent_p.I379I|KIAA1429_ENST00000421249.2_Silent_p.I379I	p.I379I	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		8	1212	-	Breast(36;3.29e-05)		379					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.1137C>T	CCDS34923.1																																																																																				0.343	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		9	260	0	0	0	1	0	9	260				
CPT1A	1374	broad.mit.edu	37	11	68527764	68527764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:68527764G>A	ENST00000265641.5	-	17	2225	c.2071C>T	c.(2071-2073)Cag>Tag	p.Q691*	CPT1A_ENST00000537756.2_5'Flank|CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q691*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q691*|CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q691*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	691					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	ACTTGCTGCTGAGGGGTCTGG	0.552																																						ENST00000265641.5																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2071-2073)Cag>Tag		carnitine palmitoyltransferase 1A (liver)	L-Carnitine(DB00583)|Perhexiline(DB01074)						66.0	56.0	59.0					11																	68527764		2200	4294	6494	SO:0001587	stop_gained	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68527764G>A	L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.2071C>T	11.37:g.68527764G>A	ENSP00000265641:p.Gln691*					CPT1A_ENST00000376618.2_Nonsense_Mutation_p.Q691*|CPT1A_ENST00000540367.1_Nonsense_Mutation_p.Q691*|CPT1A_ENST00000539743.1_Nonsense_Mutation_p.Q691*	p.Q691*	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		17	2225	-	Esophageal squamous(3;3.28e-14)		691					Q8TCU0|Q9BWK0	Nonsense_Mutation	SNP	ENST00000265641.5	37	c.2071C>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	G	37	6.125240	0.97305	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	.	.	.	4.46	4.46	0.54185	.	0.217137	0.38897	N	0.001539	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	17.6988	0.88289	0.0:0.0:1.0:0.0	.	.	.	.	X	691	.	ENSP00000265641:Q691X	Q	-	1	0	CPT1A	68284340	1.000000	0.71417	0.513000	0.27749	0.970000	0.65996	6.078000	0.71282	2.480000	0.83734	0.655000	0.94253	CAG		0.552	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876		4	49	0	0	0	1	0	4	49				
F11R	50848	broad.mit.edu	37	1	160990822	160990822	+	Silent	SNP	G	G	C	rs369249236		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:160990822G>C	ENST00000368026.6	-	1	316	c.42C>G	c.(40-42)ctC>ctG	p.L14L	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Silent_p.L14L	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	14					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CCAATATGAAGAGGCACAACA	0.587																																						ENST00000368026.6																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12						c.(40-42)ctC>ctG		F11 receptor		G		0,4406		0,0,2203	139.0	113.0	122.0		42	1.8	0.2	1		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	F11R	NM_016946.4		0,1,6502	CC,CG,GG		0.0116,0.0,0.0077		14/300	160990822	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50848				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction		g.chr1:160990822G>C	AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.42C>G	1.37:g.160990822G>C						F11R_ENST00000537746.1_Silent_p.L14L|F11R_ENST00000289779.3_3'UTR	p.L14L	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00207)		1	316	-	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		14					B7Z941	Silent	SNP	ENST00000368026.6	37	c.42C>G	CCDS1213.1																																																																																				0.587	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071458.3	NM_016946		9	35	0	0	0	1	0	9	35				
JAG1	182	broad.mit.edu	37	20	10622312	10622312	+	Silent	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:10622312G>A	ENST00000254958.5	-	23	3227	c.2712C>T	c.(2710-2712)ctC>ctT	p.L904L	JAG1_ENST00000423891.2_Silent_p.L745L	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	904					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCCCTTTGTGGAGCAGGCAAG	0.612									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(2710-2712)ctC>ctT		jagged 1							54.0	49.0	51.0					20																	10622312		2203	4300	6503	SO:0001819	synonymous_variant	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10622312G>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2712C>T	20.37:g.10622312G>A						JAG1_ENST00000423891.2_Silent_p.L745L	p.L904L	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			23	3227	-			904					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	ENST00000254958.5	37	c.2712C>T	CCDS13112.1																																																																																				0.612	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		15	66	0	0	0	1	0	15	66				
DNAH11	8701	broad.mit.edu	37	7	21723498	21723498	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr7:21723498T>C	ENST00000409508.3	+	32	5588	c.5557T>C	c.(5557-5559)Ttc>Ctc	p.F1853L	DNAH11_ENST00000328843.6_Missense_Mutation_p.F1860L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1860	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATGCCCAGTTCCAGTACTT	0.433									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(5578-5580)Ttc>Ctc		dynein, axonemal, heavy chain 11							213.0	196.0	202.0					7																	21723498		1884	4109	5993	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21723498T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5557T>C	7.37:g.21723498T>C	ENSP00000475939:p.Phe1853Leu					DNAH11_ENST00000409508.3_Missense_Mutation_p.F1853L	p.F1860L			Q96DT5	DYH11_HUMAN			33	5609	+			1860			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5578T>C		.	.	.	.	.	.	.	.	.	.	T	34	5.328309	0.95733	.	.	ENSG00000105877	ENST00000328843	T	0.27890	1.64	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	T	0.57195	-0.7853	9	0.48119	T	0.1	.	16.049	0.80744	0.0:0.0:0.0:1.0	.	1860	Q96DT5	DYH11_HUMAN	L	1860	ENSP00000330671:F1860L	ENSP00000330671:F1860L	F	+	1	0	DNAH11	21690023	1.000000	0.71417	0.993000	0.49108	0.949000	0.60115	7.997000	0.88414	2.270000	0.75569	0.460000	0.39030	TTC		0.433	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	172	0	0	0	1	0	14	172				
CXCL14	9547	broad.mit.edu	37	5	134910294	134910294	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:134910294G>C	ENST00000337225.5	-	3	752	c.288C>G	c.(286-288)atC>atG	p.I96M	CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.I84M	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	96					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inner ear development (GO:0048839)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	chemokine activity (GO:0008009)			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTACCACTTGATGAAGCGCT	0.602																																						ENST00000337225.5																			0				large_intestine(2)|lung(2)|prostate(1)|skin(1)	6						c.(286-288)atC>atG		chemokine (C-X-C motif) ligand 14							180.0	138.0	152.0					5																	134910294		2203	4300	6503	SO:0001583	missense	9547				cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity	g.chr5:134910294G>C	AF073957	CCDS4188.1	5q31	2010-04-30	2002-08-22	2002-08-23	ENSG00000145824	ENSG00000145824			10640	protein-coding gene	gene with protein product	"""breast and kidney"""	604186	"""small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)"""	SCYB14		10049774	Standard	NM_004887		Approved	BRAK, NJAC, bolekine, Kec, MIP-2g, BMAC, KS1	uc003lay.3	O95715	OTTHUMG00000129139	ENST00000337225.5:c.288C>G	5.37:g.134910294G>C	ENSP00000337065:p.Ile96Met					CTC-321K16.1_ENST00000509372.1_RNA|CXCL14_ENST00000512158.1_Missense_Mutation_p.I84M	p.I96M	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		3	752	-			96					B3KQU8|Q6UW97|Q86U69|Q9BTR1|Q9NS21	Missense_Mutation	SNP	ENST00000337225.5	37	c.288C>G	CCDS4188.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419060	0.62622	.	.	ENSG00000145824	ENST00000337225;ENST00000512158	T;T	0.05139	3.49;3.49	5.59	4.71	0.59529	Chemokine interleukin-8-like domain (2);	0.132329	0.53938	D	0.000059	T	0.12603	0.0306	L	0.48642	1.525	0.33809	D	0.627661	D	0.55172	0.97	P	0.55667	0.781	T	0.02610	-1.1134	10	0.66056	D	0.02	-2.1555	9.5941	0.39563	0.1522:0.0:0.8478:0.0	.	96	O95715	CXL14_HUMAN	M	96;84	ENSP00000337065:I96M;ENSP00000423783:I84M	ENSP00000337065:I96M	I	-	3	3	CXCL14	134938193	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.068000	0.30629	2.635000	0.89317	0.462000	0.41574	ATC		0.602	CXCL14-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_004887		4	48	0	0	0	1	0	4	48				
FOCAD	54914	broad.mit.edu	37	9	20885141	20885141	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr9:20885141A>G	ENST00000380249.1	+	23	2901	c.2537A>G	c.(2536-2538)tAt>tGt	p.Y846C	FOCAD_ENST00000605086.1_Missense_Mutation_p.Y282C|FOCAD_ENST00000338382.6_Missense_Mutation_p.Y846C	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	846						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GTTTCCATGTATCAGAGTAAA	0.338																																						ENST00000380249.1																			0											c.(2536-2538)tAt>tGt		focadhesin							158.0	137.0	144.0					9																	20885141		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20885141A>G	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2537A>G	9.37:g.20885141A>G	ENSP00000369599:p.Tyr846Cys					FOCAD_ENST00000338382.6_Missense_Mutation_p.Y846C|FOCAD_ENST00000605086.1_Missense_Mutation_p.Y282C	p.Y846C	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			23	2901	+			846					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.2537A>G	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.838714	0.51057	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.07021	3.23;3.23	5.16	5.16	0.70880	Armadillo-type fold (1);	0.127586	0.56097	D	0.000034	T	0.09555	0.0235	L	0.36672	1.1	0.41384	D	0.987571	D	0.59357	0.985	B	0.43103	0.408	T	0.12604	-1.0541	10	0.42905	T	0.14	2.3401	15.3017	0.73958	1.0:0.0:0.0:0.0	.	846	Q5VW36	K1797_HUMAN	C	846	ENSP00000369599:Y846C;ENSP00000344307:Y846C	ENSP00000344307:Y846C	Y	+	2	0	KIAA1797	20875141	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	8.175000	0.89684	2.074000	0.62210	0.454000	0.30748	TAT		0.338	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		16	55	0	0	0	1	0	16	55				
TAS1R1	80835	broad.mit.edu	37	1	6639390	6639390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:6639390G>A	ENST00000333172.6	+	6	2465	c.2272G>A	c.(2272-2274)Gag>Aag	p.E758K	ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Missense_Mutation_p.E504K	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	758					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAACTACAACGAGGCCAAATG	0.572																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(2272-2274)Gag>Aag		taste receptor, type 1, member 1							187.0	157.0	167.0					1																	6639390		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6639390G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.2272G>A	1.37:g.6639390G>A	ENSP00000331867:p.Glu758Lys					TAS1R1_ENST00000351136.3_Missense_Mutation_p.E504K|TAS1R1_ENST00000328191.4_3'UTR	p.E758K	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	6	2465	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	758					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.2272G>A	CCDS81.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.687672|5.687672	0.96784|0.96784	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000333172;ENST00000351136|ENST00000415267	D;D|.	0.92752|.	-3.1;-3.1|.	5.18|5.18	5.18|5.18	0.71444|0.71444	GPCR, family 3, conserved site (1);GPCR, family 3, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83022|0.83022	0.5164|0.5164	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.992;1.0|.	D|D	0.85586|0.85586	0.1243|0.1243	10|5	0.87932|.	D|.	0|.	.|.	17.699|17.699	0.88289|0.88289	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	504;758|.	Q7RTX1-2;Q7RTX1|.	.;TS1R1_HUMAN|.	K|Q	758;504|215	ENSP00000331867:E758K;ENSP00000312558:E504K|.	ENSP00000331867:E758K|.	E|R	+|+	1|2	0|0	TAS1R1|TAS1R1	6561977|6561977	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.990000|0.990000	0.78478|0.78478	5.563000|5.563000	0.67352|0.67352	2.401000|2.401000	0.81631|0.81631	0.591000|0.591000	0.81541|0.81541	GAG|CGA		0.572	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			22	63	0	0	0	1	0	22	63				
UNC79	57578	broad.mit.edu	37	14	94007049	94007049	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:94007049G>A	ENST00000393151.2	+	13	1396	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	UNC79_ENST00000256339.4_Missense_Mutation_p.E289K|UNC79_ENST00000553484.1_Missense_Mutation_p.E466K|UNC79_ENST00000555664.1_Missense_Mutation_p.E466K			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	466					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCGAGAACATGAGCTGAACCG	0.483																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1396-1398)Gag>Aag		unc-79 homolog (C. elegans)							72.0	79.0	77.0					14																	94007049		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94007049G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1396G>A	14.37:g.94007049G>A	ENSP00000376858:p.Glu466Lys					UNC79_ENST00000256339.4_Missense_Mutation_p.E289K|UNC79_ENST00000555664.1_Missense_Mutation_p.E466K|UNC79_ENST00000393151.2_Missense_Mutation_p.E466K	p.E466K			Q9P2D8	UNC79_HUMAN			13	1550	+			466					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1396G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.488536	0.96323	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	L	0.41824	1.3	0.58432	D	0.999998	D;D	0.61697	0.99;0.974	D;D	0.72982	0.979;0.969	T	0.29119	-1.0022	10	0.66056	D	0.02	-22.6477	19.9659	0.97266	0.0:0.0:1.0:0.0	.	466;466	C9JQL1;Q9P2D8	.;UNC79_HUMAN	K	289;466;466;466;466	ENSP00000256339:E289K;ENSP00000450868:E466K;ENSP00000451360:E466K;ENSP00000376858:E466K	ENSP00000256339:E289K	E	+	1	0	KIAA1409	93076802	1.000000	0.71417	0.821000	0.32701	0.673000	0.39480	9.869000	0.99810	2.711000	0.92665	0.650000	0.86243	GAG		0.483	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		10	95	0	0	0	1	0	10	95				
MYT1	4661	broad.mit.edu	37	20	62850283	62850283	+	Silent	SNP	C	C	T	rs61747595	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:62850283C>T	ENST00000328439.1	+	12	2230	c.1866C>T	c.(1864-1866)gaC>gaT	p.D622D	MYT1_ENST00000536311.1_Silent_p.D649D|MYT1_ENST00000360149.4_Silent_p.D324D	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACTCGCAGGACGCCGAGGCTG	0.597													C|||	10	0.00199681	0.0061	0.0014	5008	,	,		18702	0.0		0.001	False		,,,				2504	0.0				GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1945-1947)gaC>gaT		myelin transcription factor 1		C		20,4386	25.3+/-52.1	0,20,2183	77.0	74.0	75.0		1866	-8.6	0.0	20	dbSNP_129	75	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	MYT1	NM_004535.2		0,22,6480	TT,TC,CC		0.0233,0.4539,0.1692		622/1122	62850283	22,12982	2203	4299	6502	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62850283C>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1866C>T	20.37:g.62850283C>T						MYT1_ENST00000328439.1_Silent_p.D622D|MYT1_ENST00000360149.4_Silent_p.D324D	p.D649D			Q01538	MYT1_HUMAN			12	2311	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		622					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.1947C>T	CCDS13558.1																																																																																				0.597	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		5	122	0	0	0	1	0	5	122				
RGS7BP	401190	broad.mit.edu	37	5	63871704	63871704	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:63871704C>T	ENST00000334025.2	+	3	762	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	RGS7BP_ENST00000508162.1_3'UTR|RNU6-294P_ENST00000364999.1_RNA	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	146					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		CATATGTCTGCTGGGGTCTCT	0.418																																						ENST00000334025.2																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11						c.(436-438)Ctg>Ttg		regulator of G-protein signaling 7 binding protein							120.0	118.0	118.0					5																	63871704		2203	4300	6503	SO:0001819	synonymous_variant	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63871704C>T	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.436C>T	5.37:g.63871704C>T						RGS7BP_ENST00000508162.1_3'UTR	p.L146L	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	3	762	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	146					B7Z3X1	Silent	SNP	ENST00000334025.2	37	c.436C>T	CCDS34170.1																																																																																				0.418	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		6	93	0	0	0	1	0	6	93				
ADRA1B	147	broad.mit.edu	37	5	159343986	159343986	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:159343986T>G	ENST00000306675.3	+	1	197	c.74T>G	c.(73-75)tTc>tGc	p.F25C		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	25					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	AATGCCAACTTCACTGGCCCC	0.597																																						ENST00000306675.3																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(73-75)tTc>tGc		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						72.0	72.0	72.0					5																	159343986		2203	4300	6503	SO:0001583	missense	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159343986T>G	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.74T>G	5.37:g.159343986T>G	ENSP00000306662:p.Phe25Cys						p.F25C	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	197	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	25					B0LPE1	Missense_Mutation	SNP	ENST00000306675.3	37	c.74T>G	CCDS4347.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.510204	0.27036	.	.	ENSG00000170214	ENST00000306675	T	0.62364	0.03	4.94	3.77	0.43336	.	2.006690	0.01779	N	0.031650	T	0.42630	0.1211	N	0.14661	0.345	0.31124	N	0.70852	P	0.39903	0.694	B	0.28849	0.095	T	0.47686	-0.9098	10	0.48119	T	0.1	.	5.1863	0.15185	0.1577:0.0866:0.0:0.7558	.	25	P35368	ADA1B_HUMAN	C	25	ENSP00000306662:F25C	ENSP00000306662:F25C	F	+	2	0	ADRA1B	159276564	0.990000	0.36364	1.000000	0.80357	0.979000	0.70002	1.886000	0.39688	0.844000	0.35094	0.379000	0.24179	TTC		0.597	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			5	64	0	0	0	1	0	5	64				
STON2	85439	broad.mit.edu	37	14	81744353	81744353	+	Silent	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:81744353G>T	ENST00000267540.2	-	4	1502	c.1302C>A	c.(1300-1302)atC>atA	p.I434I	STON2_ENST00000555447.1_Silent_p.I434I|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	434	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCTTCTCAGGGATCCTCAACA	0.537																																						ENST00000555447.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34						c.(1300-1302)atC>atA		stonin 2							169.0	162.0	165.0					14																	81744353		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744353G>T	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1302C>A	14.37:g.81744353G>T						STON2_ENST00000267540.2_Silent_p.I434I	p.I434I	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	6	1714	-			434			SHD.		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.1302C>A	CCDS9875.1																																																																																				0.537	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104		16	238	1	0	0.000308642	1	0.000320384	16	238				
TTC33	23548	broad.mit.edu	37	5	40716521	40716521	+	Missense_Mutation	SNP	C	C	T	rs575440059		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:40716521C>T	ENST00000337702.4	-	5	667	c.515G>A	c.(514-516)aGa>aAa	p.R172K	TTC33_ENST00000503936.2_5'UTR	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	172										NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CTGGAGCGTTCTTGCCCAAGA	0.423																																						ENST00000337702.4																			0				NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						c.(514-516)aGa>aAa		tetratricopeptide repeat domain 33							143.0	140.0	141.0					5																	40716521		2203	4300	6503	SO:0001583	missense	23548						binding	g.chr5:40716521C>T	BC015701	CCDS3931.1	5p13.1	2013-01-11			ENSG00000113638	ENSG00000113638		"""Tetratricopeptide (TTC) repeat domain containing"""	29959	protein-coding gene	gene with protein product	"""osmosis responsive factor"""					12477932	Standard	NM_012382		Approved	OSRF	uc003jma.3	Q6PID6	OTTHUMG00000131142	ENST00000337702.4:c.515G>A	5.37:g.40716521C>T	ENSP00000338533:p.Arg172Lys					TTC33_ENST00000503936.2_5'UTR	p.R172K	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN			5	667	-			172					B2R6G0|O95105	Missense_Mutation	SNP	ENST00000337702.4	37	c.515G>A	CCDS3931.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691392	0.68271	.	.	ENSG00000113638	ENST00000337702	T	0.31510	1.49	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.114429	0.64402	D	0.000002	T	0.30166	0.0756	L	0.47716	1.5	0.47123	D	0.999325	P	0.52842	0.956	B	0.44224	0.444	T	0.10019	-1.0648	10	0.05351	T	0.99	-22.2972	20.0506	0.97625	0.0:1.0:0.0:0.0	.	172	Q6PID6	TTC33_HUMAN	K	172	ENSP00000338533:R172K	ENSP00000338533:R172K	R	-	2	0	TTC33	40752278	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.347000	0.52200	2.729000	0.93468	0.650000	0.86243	AGA		0.423	TTC33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253831.1	NM_012382		11	150	0	0	0	1	0	11	150				
HS3ST5	222537	broad.mit.edu	37	6	114378702	114378702	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:114378702C>G	ENST00000312719.5	-	5	1948	c.760G>C	c.(760-762)Gat>Cat	p.D254H	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.D254H|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	254					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CGATCTCCATCGACGACATGA	0.418																																						ENST00000312719.5																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41						c.(760-762)Gat>Cat		heparan sulfate (glucosamine) 3-O-sulfotransferase 5							159.0	153.0	155.0					6																	114378702		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378702C>G	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.760G>C	6.37:g.114378702C>G	ENSP00000427888:p.Asp254His					RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.D254H|RP3-399L15.3_ENST00000519270.1_RNA	p.D254H			Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	5	1948	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	254					A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.760G>C	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114410	0.56505	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.82803	-1.65;-1.65	6.06	6.06	0.98353	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.91372	0.7278	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91082	0.4900	10	0.87932	D	0	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	254	Q8IZT8	HS3S5_HUMAN	H	254	ENSP00000427888:D254H;ENSP00000440332:D254H	ENSP00000427888:D254H	D	-	1	0	HS3ST5	114485395	1.000000	0.71417	0.955000	0.39395	0.585000	0.36419	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	GAT		0.418	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		8	158	0	0	0	1	0	8	158				
KCTD13	253980	broad.mit.edu	37	16	29937220	29937220	+	Silent	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:29937220C>T	ENST00000568000.1	-	1	1136	c.135G>A	c.(133-135)ctG>ctA	p.L45L	CTD-2574D22.2_ENST00000450909.3_RNA|KCTD13_ENST00000561540.1_Silent_p.L45L|KCTD13_ENST00000568721.1_5'UTR	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	45	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						CGCCCACGTTCAGCTTCACGT	0.672																																						ENST00000568000.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						c.(133-135)ctG>ctA		potassium channel tetramerization domain containing 13							77.0	55.0	62.0					16																	29937220		2197	4300	6497	SO:0001819	synonymous_variant	253980				cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity	g.chr16:29937220C>T	AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.135G>A	16.37:g.29937220C>T						KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Silent_p.L45L	p.L45L	NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN			1	1136	-			45			BTB.		A8K0R5|Q96P93|Q96SA1	Silent	SNP	ENST00000568000.1	37	c.135G>A	CCDS10661.1																																																																																				0.672	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255162.2	NM_178863		7	54	0	0	0	1	0	7	54				
ATF4P4	100127952	broad.mit.edu	37	11	113659993	113659993	+	RNA	SNP	A	A	C	rs906846	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:113659993A>C	ENST00000393544.2	+	0	41									activating transcription factor 4 pseudogene 4																		GGCAGCATGTAGGTTGCAGGG	0.657													C|||	2453	0.489816	0.5514	0.4669	5008	,	,		13443	0.5804		0.4185	False		,,,				2504	0.4029					ENST00000393544.2																			0																																																			100127952							g.chr11:113659993A>C			11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113659993A>C														0	41	+									RNA	SNP	ENST00000393544.2	37																																																																																						0.657	ATF4P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000398707.1	NG_021835		4	21	0	0	0	1	0	4	21				
RICTOR	253260	broad.mit.edu	37	5	38957791	38957791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:38957791C>T	ENST00000357387.3	-	25	2492	c.2462G>A	c.(2461-2463)aGa>aAa	p.R821K	RICTOR_ENST00000296782.5_Missense_Mutation_p.R821K|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TACATAACCTCTTTCATTCAG	0.308																																						ENST00000357387.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75						c.(2461-2463)aGa>aAa		RPTOR independent companion of MTOR, complex 2							104.0	110.0	108.0					5																	38957791		2202	4297	6499	SO:0001583	missense	253260				actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	g.chr5:38957791C>T		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2462G>A	5.37:g.38957791C>T	ENSP00000349959:p.Arg821Lys					RICTOR_ENST00000296782.5_Missense_Mutation_p.R821K|RICTOR_ENST00000503698.1_5'UTR	p.R821K	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN			25	2492	-	all_lung(31;0.000396)		821						Missense_Mutation	SNP	ENST00000357387.3	37	c.2462G>A	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149921	0.78001	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.64438	-0.1;1.0	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73087	0.3542	L	0.38175	1.15	0.80722	D	1	B;D	0.56035	0.031;0.974	B;D	0.70487	0.159;0.969	T	0.75036	-0.3459	10	0.87932	D	0	-14.1956	19.5857	0.95489	0.0:1.0:0.0:0.0	.	821;821	Q6R327;Q6R327-3	RICTR_HUMAN;.	K	821	ENSP00000349959:R821K;ENSP00000296782:R821K	ENSP00000296782:R821K	R	-	2	0	RICTOR	38993548	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.428000	0.80296	2.696000	0.92011	0.591000	0.81541	AGA		0.308	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	NM_152756		12	93	0	0	0	1	0	12	93				
C1orf101	257044	broad.mit.edu	37	1	244681992	244681992	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:244681992G>C	ENST00000366534.4	+	8	582	c.528G>C	c.(526-528)atG>atC	p.M176I	C1orf101_ENST00000366531.3_Missense_Mutation_p.M25I|C1orf101_ENST00000366533.4_Missense_Mutation_p.M176I|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	176						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATGAGAAAATGAGAAGGGGGt	0.299																																						ENST00000366534.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36						c.(526-528)atG>atC		chromosome 1 open reading frame 101							31.0	35.0	33.0					1																	244681992		2184	4292	6476	SO:0001583	missense	257044					integral to membrane		g.chr1:244681992G>C	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.528G>C	1.37:g.244681992G>C	ENSP00000355492:p.Met176Ile					C1orf101_ENST00000366533.4_Missense_Mutation_p.M176I|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366531.3_Missense_Mutation_p.M25I	p.M176I	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		8	582	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		176					B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.528G>C	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	2.273	-0.366433	0.05069	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000366531	T;T	0.29142	1.58;1.58	4.68	-1.01	0.10169	.	1.721060	0.02536	N	0.094127	T	0.21841	0.0526	L	0.33485	1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12066	-1.0562	10	0.33940	T	0.23	.	2.9946	0.05994	0.3014:0.0:0.3626:0.336	.	176;176	Q5SY80;Q5SY80-2	CA101_HUMAN;.	I	176;176;176;25	ENSP00000355492:M176I;ENSP00000355491:M176I	ENSP00000355489:M25I	M	+	3	0	C1orf101	242748615	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.191000	0.09601	-0.269000	0.09298	0.650000	0.86243	ATG		0.299	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		10	62	0	0	0	1	0	10	62				
SLC2A11	66035	broad.mit.edu	37	22	24219248	24219248	+	Silent	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:24219248G>A	ENST00000345044.6	+	5	694	c.426G>A	c.(424-426)caG>caA	p.Q142Q	SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Silent_p.Q107Q|SLC2A11_ENST00000405847.1_Silent_p.Q142Q|SLC2A11_ENST00000398356.2_Silent_p.Q149Q|SLC2A11_ENST00000316185.8_Silent_p.Q145Q|RN7SL268P_ENST00000491172.2_RNA			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	142					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						TGAACATCCAGCCCATGTACC	0.642																																						ENST00000345044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						c.(424-426)caG>caA		solute carrier family 2 (facilitated glucose transporter), member 11							76.0	70.0	72.0					22																	24219248		2203	4300	6503	SO:0001819	synonymous_variant	66035					integral to membrane|plasma membrane	sugar transmembrane transporter activity	g.chr22:24219248G>A	AJ271290	CCDS13818.1, CCDS33616.1, CCDS46673.1, CCDS74828.1	22q11.23	2013-05-22			ENSG00000133460	ENSG00000133460		"""Solute carriers"""	14239	protein-coding gene	gene with protein product		610367					Standard	NM_001024938		Approved	GLUT11, GLUT10	uc002zyp.4	Q9BYW1	OTTHUMG00000166469	ENST00000345044.6:c.426G>A	22.37:g.24219248G>A						SLC2A11_ENST00000405847.1_Silent_p.Q142Q|SLC2A11_ENST00000316185.8_Silent_p.Q145Q|SLC2A11_ENST00000467660.1_3'UTR|AP000350.10_ENST00000433835.3_Silent_p.Q107Q|SLC2A11_ENST00000398356.2_Silent_p.Q149Q	p.Q142Q			Q9BYW1	GTR11_HUMAN			5	694	+			142					E9PH55|Q542Y4|Q6ICJ5|Q8WXF9|Q8WYM4	Silent	SNP	ENST00000345044.6	37	c.426G>A	CCDS46673.1	.	.	.	.	.	.	.	.	.	.	G	9.299	1.052684	0.19907	.	.	ENSG00000251357	ENST00000421180	.	.	.	4.2	3.06	0.35304	.	.	.	.	.	T	0.61337	0.2339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59220	-0.7495	4	.	.	.	.	11.5423	0.50673	0.0:0.1835:0.8164:0.0	.	.	.	.	N	118	.	.	S	+	2	0	AP000350.10	22549248	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.248000	0.65421	2.300000	0.77407	0.603000	0.83216	AGC		0.642	SLC2A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319889.3	NM_030807		12	76	0	0	0	1	0	12	76				
DCK	1633	broad.mit.edu	37	4	71892453	71892453	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:71892453A>T	ENST00000286648.5	+	6	1134	c.737A>T	c.(736-738)tAt>tTt	p.Y246F	DCK_ENST00000504730.1_3'UTR|DCK_ENST00000504952.1_Missense_Mutation_p.Y246F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	246					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	AAAGACAAATATGAAAGTCTG	0.294																																						ENST00000286648.5																			0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(736-738)tAt>tTt		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						39.0	40.0	40.0					4																	71892453		2203	4280	6483	SO:0001583	missense	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71892453A>T	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.737A>T	4.37:g.71892453A>T	ENSP00000286648:p.Tyr246Phe					DCK_ENST00000504730.1_3'UTR|DCK_ENST00000504952.1_Missense_Mutation_p.Y246F	p.Y246F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	Lung(101;0.235)		6	1134	+			246					B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	c.737A>T	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.267872	0.23136	.	.	ENSG00000156136	ENST00000286648;ENST00000504952	D;D	0.97831	-4.56;-4.56	5.78	5.78	0.91487	.	0.506921	0.24407	N	0.038790	D	0.94152	0.8124	N	0.22421	0.69	0.23309	N	0.997935	B	0.10296	0.003	B	0.19391	0.025	T	0.81660	-0.0832	10	0.11485	T	0.65	.	16.1095	0.81250	1.0:0.0:0.0:0.0	.	246	P27707	DCK_HUMAN	F	246	ENSP00000286648:Y246F;ENSP00000421508:Y246F	ENSP00000286648:Y246F	Y	+	2	0	DCK	72111317	0.992000	0.36948	0.988000	0.46212	0.734000	0.41952	5.348000	0.66004	2.210000	0.71456	0.482000	0.46254	TAT		0.294	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2			10	50	0	0	0	1	0	10	50				
CFHR1	3078	broad.mit.edu	37	1	196796099	196796099	+	Silent	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:196796099C>A	ENST00000320493.5	+	3	482	c.394C>A	c.(394-396)Cgg>Agg	p.R132R	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Silent_p.R132R	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	132	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ATGTGTAGAACGGGGCTGGTC	0.393																																						ENST00000320493.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						c.(394-396)Cgg>Agg		complement factor H-related 1							93.0	101.0	99.0					1																	196796099		1876	4124	6000	SO:0001819	synonymous_variant	3078				complement activation	extracellular space		g.chr1:196796099C>A	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.394C>A	1.37:g.196796099C>A						CFHR1_ENST00000498248.1_3'UTR|CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.3_Silent_p.R132R	p.R132R	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN			3	482	+			132			Sushi 2.		A8K465|Q3B774|Q9UJ17	Silent	SNP	ENST00000320493.5	37	c.394C>A	CCDS1386.1																																																																																				0.393	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		19	78	1	0	3.32936e-07	1	3.61311e-07	19	78				
DSP	1832	broad.mit.edu	37	6	7585993	7585993	+	Missense_Mutation	SNP	C	C	A	rs397516971		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:7585993C>A	ENST00000379802.3	+	24	8839	c.8498C>A	c.(8497-8499)tCt>tAt	p.S2833Y	DSP_ENST00000418664.2_Missense_Mutation_p.S2234Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2833	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		cgctcgggatctcgctccgga	0.617																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(8497-8499)tCt>tAt		desmoplakin							54.0	66.0	62.0					6																	7585993		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7585993C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.8498C>A	6.37:g.7585993C>A	ENSP00000369129:p.Ser2833Tyr					DSP_ENST00000418664.2_Missense_Mutation_p.S2234Y	p.S2833Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	8839	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2833			6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.8498C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334641	0.60853	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;D	0.82167	-1.35;-1.58	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000018	D	0.86875	0.6038	L	0.52573	1.65	0.44976	D	0.997992	D;D	0.76494	0.998;0.999	D;D	0.81914	0.994;0.995	D	0.88091	0.2813	10	0.72032	D	0.01	.	16.9425	0.86222	0.0:1.0:0.0:0.0	.	2281;2833	Q4LE79;P15924	.;DESP_HUMAN	Y	2833;2234	ENSP00000369129:S2833Y;ENSP00000396591:S2234Y	ENSP00000369129:S2833Y	S	+	2	0	DSP	7530992	1.000000	0.71417	0.487000	0.27428	0.082000	0.17680	5.842000	0.69417	2.514000	0.84764	0.655000	0.94253	TCT		0.617	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		10	121	1	0	2.17888e-05	1	2.31203e-05	10	121				
RET	5979	broad.mit.edu	37	10	43612115	43612115	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:43612115G>T	ENST00000355710.3	+	12	2452	c.2220G>T	c.(2218-2220)aaG>aaT	p.K740N	RET_ENST00000340058.5_Missense_Mutation_p.K740N	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	740	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AAGTGGTCAAGGCAACGGCCT	0.532		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2218-2220)aaG>aaT		ret proto-oncogene	Sunitinib(DB01268)						147.0	155.0	153.0					10																	43612115		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43612115G>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2220G>T	10.37:g.43612115G>T	ENSP00000347942:p.Lys740Asn					RET_ENST00000340058.5_Missense_Mutation_p.K740N	p.K740N	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			12	2452	+		Ovarian(717;0.0423)	740			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2220G>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901103	0.72754	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.90676	-2.71;-2.71	5.65	2.81	0.32909	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.087317	0.85682	D	0.000000	D	0.95306	0.8477	M	0.93898	3.47	0.80722	D	1	D;D;D	0.71674	0.992;0.998;0.998	P;D;P	0.64687	0.887;0.928;0.882	D	0.94417	0.7637	10	0.72032	D	0.01	.	8.6824	0.34216	0.2882:0.0:0.7118:0.0	.	486;740;740	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	N	740	ENSP00000347942:K740N;ENSP00000344798:K740N	ENSP00000344798:K740N	K	+	3	2	RET	42932121	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.032000	0.49736	0.749000	0.32854	0.655000	0.94253	AAG		0.532	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		32	174	1	0	8.16721e-17	1	9.28534e-17	32	174				
SIRPB1	10326	broad.mit.edu	37	20	1558986	1558986	+	Missense_Mutation	SNP	C	C	T	rs201638914		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr20:1558986C>T	ENST00000381605.4	-	2	495	c.431G>A	c.(430-432)cGc>cAc	p.R144H	SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144H|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144H	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	144					cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTACTCACCGCGCACAGACAG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18226	0.0		0.0	False		,,,				2504	0.001					ENST00000381605.4																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(430-432)cGc>cAc		signal-regulatory protein beta 1		C	HIS/ARG,HIS/ARG	0,4392		0,0,2196	118.0	105.0	110.0		431,431	-1.2	0.0	20		110	4,8466		1,2,4232	yes	missense,missense	SIRPB1	NM_001083910.2,NM_006065.3	29,29	1,2,6428	TT,TC,CC		0.0472,0.0,0.0311	benign,benign	144/182,144/399	1558986	4,12858	2196	4235	6431	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1558986C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.431G>A	20.37:g.1558986C>T	ENSP00000371018:p.Arg144His					RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.R144H|SIRPB1_ENST00000262929.5_Missense_Mutation_p.R143H|SIRPB1_ENST00000381603.3_Missense_Mutation_p.R144H	p.R144H	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	495	-			144					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.431G>A	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	6.474	0.455592	0.12283	0.0	4.72E-4	ENSG00000101307	ENST00000381605;ENST00000381603;ENST00000262929	T;T;T	0.02258	4.37;4.37;4.37	2.36	-1.17	0.09648	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.021760	0.07769	N	0.951360	T	0.01870	0.0059	L	0.49350	1.555	0.09310	N	1	B;B	0.27700	0.186;0.002	B;B	0.13407	0.009;0.003	T	0.49051	-0.8979	10	0.08381	T	0.77	.	2.3214	0.04211	0.2395:0.4521:0.0:0.3084	.	144;144	O00241;O00241-2	SIRB1_HUMAN;.	H	144;144;143	ENSP00000371018:R144H;ENSP00000371016:R144H;ENSP00000262929:R143H	ENSP00000262929:R143H	R	-	2	0	SIRPB1	1506986	0.001000	0.12720	0.013000	0.15412	0.040000	0.13550	-0.278000	0.08490	-0.434000	0.07275	-0.369000	0.07265	CGC		0.552	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		24	131	0	0	0	1	0	24	131				
TBK1	29110	broad.mit.edu	37	12	64891448	64891448	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:64891448G>C	ENST00000331710.5	+	19	2319	c.1980G>C	c.(1978-1980)caG>caC	p.Q660H		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	660					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|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)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		CTCTGCCTCAGAAAATGTTTA	0.333																																						ENST00000331710.5																			0				breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20						c.(1978-1980)caG>caC		TANK-binding kinase 1							58.0	58.0	58.0					12																	64891448		2203	4300	6503	SO:0001583	missense	29110				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr12:64891448G>C	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1980G>C	12.37:g.64891448G>C	ENSP00000329967:p.Gln660His						p.Q660H	NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN		GBM - Glioblastoma multiforme(28;0.0386)	19	2319	+			660					A8K4S4|Q8IYV3|Q9NUJ5	Missense_Mutation	SNP	ENST00000331710.5	37	c.1980G>C	CCDS8968.1	.	.	.	.	.	.	.	.	.	.	G	3.980	-0.006682	0.07773	.	.	ENSG00000183735	ENST00000331710	T	0.12774	2.65	5.39	4.5	0.54988	.	0.112881	0.64402	D	0.000008	T	0.08537	0.0212	L	0.27053	0.805	0.42293	D	0.99214	B	0.06786	0.001	B	0.04013	0.001	T	0.23904	-1.0175	9	.	.	.	-5.3818	6.7004	0.23223	0.1464:0.0:0.7095:0.1441	.	660	Q9UHD2	TBK1_HUMAN	H	660	ENSP00000329967:Q660H	.	Q	+	3	2	TBK1	63177715	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.555000	0.45854	1.432000	0.47375	0.479000	0.44913	CAG		0.333	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254		16	58	0	0	0	1	0	16	58				
PWP1	11137	broad.mit.edu	37	12	108086644	108086644	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:108086644G>C	ENST00000412830.3	+	4	541	c.373G>C	c.(373-375)Gat>Cat	p.D125H	PWP1_ENST00000541166.1_Missense_Mutation_p.D63H	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	125					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						CGGGAGTAATGATCAAGATCC	0.348																																						ENST00000412830.3																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						c.(373-375)Gat>Cat		PWP1 homolog (S. cerevisiae)							127.0	124.0	125.0					12																	108086644		2203	4300	6503	SO:0001583	missense	11137				transcription, DNA-dependent	nucleus		g.chr12:108086644G>C	BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.373G>C	12.37:g.108086644G>C	ENSP00000387365:p.Asp125His					PWP1_ENST00000541166.1_Missense_Mutation_p.D63H	p.D125H	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN			4	541	+			125					A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	c.373G>C	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038567	0.75617	.	.	ENSG00000136045	ENST00000412830;ENST00000547995;ENST00000258531;ENST00000546068;ENST00000538327;ENST00000541166	T;T	0.71698	-0.59;-0.55	5.37	5.37	0.77165	WD40 repeat-like-containing domain (1);	0.260600	0.43919	D	0.000520	T	0.73621	0.3610	M	0.69358	2.11	0.51012	D	0.999903	P	0.48162	0.906	B	0.43701	0.428	T	0.77807	-0.2450	10	0.62326	D	0.03	.	19.0741	0.93151	0.0:0.0:1.0:0.0	.	125	Q13610	PWP1_HUMAN	H	125;63;125;125;125;63	ENSP00000387365:D125H;ENSP00000445249:D63H	ENSP00000258531:D125H	D	+	1	0	PWP1	106610774	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	5.768000	0.68858	2.674000	0.91012	0.643000	0.83706	GAT		0.348	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062		11	51	0	0	0	1	0	11	51				
HEPACAM	220296	broad.mit.edu	37	11	124794745	124794745	+	Silent	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:124794745A>G	ENST00000298251.4	-	2	711	c.306T>C	c.(304-306)ttT>ttC	p.F102F		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AGCCATTTTCAAAGAGTCGGA	0.592																																						ENST00000298251.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(304-306)ttT>ttC		hepatic and glial cell adhesion molecule							144.0	131.0	136.0					11																	124794745		2201	4299	6500	SO:0001819	synonymous_variant	220296				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		g.chr11:124794745A>G	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.306T>C	11.37:g.124794745A>G							p.F102F	NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	2	711	-	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	102			Ig-like V-type.			Silent	SNP	ENST00000298251.4	37	c.306T>C	CCDS8456.1																																																																																				0.592	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722		28	122	0	0	0	1	0	28	122				
MARC1	64757	broad.mit.edu	37	1	220986691	220986691	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:220986691G>C	ENST00000366910.5	+	7	1131	c.945G>C	c.(943-945)ggG>ggC	p.G315G	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	315	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CACTCTTTGGGCAGTATTTTG	0.473																																						ENST00000366910.5																			0											c.(943-945)ggG>ggC		mitochondrial amidoxime reducing component 1							178.0	169.0	172.0					1																	220986691		2203	4300	6503	SO:0001819	synonymous_variant	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220986691G>C	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.945G>C	1.37:g.220986691G>C						MARC1_ENST00000496110.1_3'UTR	p.G315G	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN			7	1131	+			315			MOSC.		A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Silent	SNP	ENST00000366910.5	37	c.945G>C	CCDS1526.1	.	.	.	.	.	.	.	.	.	.	G	9.743	1.165347	0.21538	.	.	ENSG00000186205	ENST00000407981	.	.	.	5.54	-4.93	0.03066	.	.	.	.	.	T	0.50956	0.1646	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51585	-0.8687	4	.	.	.	-10.4427	8.8832	0.35387	0.2793:0.2293:0.4913:0.0	.	.	.	.	P	241	.	.	A	+	1	0	MOSC1	219053314	0.588000	0.26799	0.866000	0.34008	0.996000	0.88848	-0.307000	0.08167	-0.846000	0.04174	-0.302000	0.09304	GCA		0.473	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		10	154	0	0	0	1	0	10	154				
HS3ST5	222537	broad.mit.edu	37	6	114378831	114378831	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:114378831C>G	ENST00000312719.5	-	5	1819	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E211Q|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	211					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCCAGCTTCTCAAACTTGTAA	0.413																																						ENST00000312719.5																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41						c.(631-633)Gag>Cag		heparan sulfate (glucosamine) 3-O-sulfotransferase 5							305.0	306.0	305.0					6																	114378831		2203	4300	6503	SO:0001583	missense	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114378831C>G	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.631G>C	6.37:g.114378831C>G	ENSP00000427888:p.Glu211Gln					RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E211Q|RP3-399L15.3_ENST00000519270.1_RNA	p.E211Q			Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	5	1819	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	211					A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	ENST00000312719.5	37	c.631G>C	CCDS34517.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424383	0.62733	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.84589	-1.87;-1.87	5.91	5.91	0.95273	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.86239	0.5885	L	0.45744	1.44	0.80722	D	1	D	0.53462	0.96	P	0.55545	0.778	D	0.84569	0.0654	10	0.42905	T	0.14	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	211	Q8IZT8	HS3S5_HUMAN	Q	211	ENSP00000427888:E211Q;ENSP00000440332:E211Q	ENSP00000427888:E211Q	E	-	1	0	HS3ST5	114485524	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.270000	0.78493	2.802000	0.96397	0.655000	0.94253	GAG		0.413	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		27	328	0	0	0	1	0	27	328				
CECR2	27443	broad.mit.edu	37	22	18022154	18022154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr22:18022154G>A	ENST00000400585.2	+	16	2271	c.1833G>A	c.(1831-1833)tgG>tgA	p.W611*	CECR2_ENST00000262608.8_Nonsense_Mutation_p.W753*|CECR2_ENST00000400573.5_Nonsense_Mutation_p.W752*			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	794	Poly-Ser.				apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CTGCCGTCTGGAATGGGAACC	0.577																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(2257-2259)tgG>tgA		cat eye syndrome chromosome region, candidate 2							40.0	44.0	42.0					22																	18022154		1948	4143	6091	SO:0001587	stop_gained	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18022154G>A	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1833G>A	22.37:g.18022154G>A	ENSP00000383428:p.Trp611*					CECR2_ENST00000400573.4_Nonsense_Mutation_p.W752*|CECR2_ENST00000400585.2_Nonsense_Mutation_p.W611*	p.W753*	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	15	2259	+		all_epithelial(15;0.139)	794					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Nonsense_Mutation	SNP	ENST00000400585.2	37	c.2259G>A		.	.	.	.	.	.	.	.	.	.	G	38	6.821919	0.97865	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	.	.	.	5.29	5.29	0.74685	.	0.000000	0.50627	D	0.000112	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3391	17.289	0.87150	0.0:0.0:1.0:0.0	.	.	.	.	X	611;752;753	.	ENSP00000262608:W753X	W	+	3	0	CECR2	16402154	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	6.457000	0.73505	2.756000	0.94617	0.561000	0.74099	TGG		0.577	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		12	50	0	0	0	1	0	12	50				
INHBC	3626	broad.mit.edu	37	12	57828902	57828902	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr12:57828902A>C	ENST00000309668.2	+	1	360	c.233A>C	c.(232-234)cAc>cCc	p.H78P	RP11-756H6.1_ENST00000547552.1_lincRNA	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	78					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GCACTGCAGCACCTCCACGGG	0.567																																						ENST00000309668.2																			0				breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						c.(232-234)cAc>cCc		inhibin, beta C							55.0	47.0	50.0					12																	57828902		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57828902A>C		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.233A>C	12.37:g.57828902A>C	ENSP00000308716:p.His78Pro					INHBC_ENST00000550133.1_Missense_Mutation_p.H78P	p.H78P	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN			1	360	+			78					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.233A>C	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	A	6.705	0.498725	0.12762	.	.	ENSG00000175189	ENST00000550133;ENST00000309668	T;T	0.64438	-0.1;-0.1	4.75	0.919	0.19392	Transforming growth factor-beta, N-terminal (1);	0.430421	0.22932	N	0.053891	T	0.38453	0.1041	N	0.08118	0	0.09310	N	1	B	0.23735	0.09	B	0.25614	0.062	T	0.33879	-0.9851	10	0.72032	D	0.01	-1.9115	8.4012	0.32588	0.3382:0.0:0.6618:0.0	.	78	P55103	INHBC_HUMAN	P	78	ENSP00000449889:H78P;ENSP00000308716:H78P	ENSP00000308716:H78P	H	+	2	0	INHBC	56115169	0.131000	0.22433	0.868000	0.34077	0.147000	0.21601	0.069000	0.14552	0.060000	0.16281	-0.797000	0.03246	CAC		0.567	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		5	61	0	0	0	1	0	5	61				
GABRA4	2557	broad.mit.edu	37	4	46979498	46979498	+	Silent	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:46979498G>C	ENST00000264318.3	-	4	1405	c.423C>G	c.(421-423)gtC>gtG	p.V141V		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	141					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TATTATGTGAGACAGATTTCT	0.328																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(421-423)gtC>gtG		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						86.0	87.0	87.0					4																	46979498		2203	4300	6503	SO:0001819	synonymous_variant	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46979498G>C		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.423C>G	4.37:g.46979498G>C							p.V141V	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			4	1405	-			141					Q8IYR7	Silent	SNP	ENST00000264318.3	37	c.423C>G	CCDS3473.1																																																																																				0.328	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			7	68	0	0	0	1	0	7	68				
PCDHB7	56129	broad.mit.edu	37	5	140552562	140552562	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140552562C>T	ENST00000231137.3	+	1	320	c.146C>T	c.(145-147)gCa>gTa	p.A49V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCAACTTGGCAAAAGACCTA	0.493																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(145-147)gCa>gTa									93.0	93.0	93.0					5																	140552562		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552562C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.146C>T	5.37:g.140552562C>T	ENSP00000231137:p.Ala49Val						p.A49V	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	320	+			49			Cadherin 1.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.146C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	9.221	1.033480	0.19590	.	.	ENSG00000113212	ENST00000231137	T	0.23147	1.92	4.79	4.79	0.61399	Cadherin, N-terminal (1);	.	.	.	.	T	0.24431	0.0592	L	0.50993	1.605	0.32375	N	0.555336	B	0.15930	0.015	B	0.21360	0.034	T	0.14783	-1.0460	9	0.48119	T	0.1	.	8.9061	0.35523	0.0:0.8296:0.0:0.1704	.	49	Q9Y5E2	PCDB7_HUMAN	V	49	ENSP00000231137:A49V	ENSP00000231137:A49V	A	+	2	0	PCDHB7	140532746	0.977000	0.34250	0.440000	0.26846	0.055000	0.15305	2.482000	0.45224	2.357000	0.79964	0.655000	0.94253	GCA		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		14	92	0	0	0	1	0	14	92				
DENND4B	9909	broad.mit.edu	37	1	153907281	153907281	+	Missense_Mutation	SNP	G	G	C	rs3835302		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:153907281G>C	ENST00000361217.4	-	18	3146	c.2728C>G	c.(2728-2730)Cag>Gag	p.Q910E	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	910	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACctgctcctgctgctgctgc	0.637																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2728-2730)Cag>Gag		DENN/MADD domain containing 4B							23.0	26.0	25.0					1																	153907281		2184	4283	6467	SO:0001583	missense	9909							g.chr1:153907281G>C	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2728C>G	1.37:g.153907281G>C	ENSP00000354597:p.Gln910Glu						p.Q910E	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3146	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		910			Gln-rich.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.2728C>G	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.472	-0.559641	0.03967	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06142	3.35;3.34	3.46	-0.019	0.13961	.	5.533310	0.00166	N	0.000005	T	0.00784	0.0026	N	0.08118	0	0.18873	N	0.999986	B	0.02656	0.0	B	0.01281	0.0	T	0.32455	-0.9906	10	0.05833	T	0.94	.	5.5137	0.16894	0.0:0.2087:0.4093:0.382	.	910	O75064	DEN4B_HUMAN	E	910;921	ENSP00000354597:Q910E;ENSP00000357635:Q921E	ENSP00000354597:Q910E	Q	-	1	0	DENND4B	152173905	0.001000	0.12720	0.930000	0.37139	0.549000	0.35272	0.424000	0.21330	0.270000	0.21984	0.264000	0.19307	CAG		0.637	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		5	49	0	0	0	1	0	5	49				
COL9A1	1297	broad.mit.edu	37	6	70993468	70993468	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:70993468G>A	ENST00000357250.6	-	6	910	c.752C>T	c.(751-753)aCt>aTt	p.T251I	COL9A1_ENST00000320755.7_5'Flank|COL9A1_ENST00000370499.4_5'Flank|COL9A1_ENST00000370496.3_Missense_Mutation_p.T251I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	251	Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCATGGCAAGTTTCTCTCCT	0.522																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(751-753)aCt>aTt		collagen, type IX, alpha 1							122.0	97.0	106.0					6																	70993468		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70993468G>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.752C>T	6.37:g.70993468G>A	ENSP00000349790:p.Thr251Ile					COL9A1_ENST00000370496.3_Missense_Mutation_p.T251I	p.T251I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			6	910	-			251			Nonhelical region (NC4).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.752C>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756061	0.69648	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	D;D	0.92048	-2.59;-2.96	5.56	5.56	0.83823	Concanavalin A-like lectin/glucanase (1);	0.163397	0.42964	D	0.000637	D	0.88926	0.6570	L	0.50333	1.59	0.80722	D	1	D	0.60160	0.987	P	0.46975	0.533	D	0.89736	0.3930	10	0.54805	T	0.06	.	14.8516	0.70300	0.0:0.1544:0.8456:0.0	.	251	P20849	CO9A1_HUMAN	I	251	ENSP00000349790:T251I;ENSP00000359527:T251I	ENSP00000349790:T251I	T	-	2	0	COL9A1	71050189	0.994000	0.37717	0.962000	0.40283	0.951000	0.60555	2.322000	0.43814	2.633000	0.89246	0.655000	0.94253	ACT		0.522	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			4	22	0	0	0	1	0	4	22				
RPAP2	79871	broad.mit.edu	37	1	92789163	92789163	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:92789163C>A	ENST00000610020.1	+	8	795	c.686C>A	c.(685-687)cCa>cAa	p.P229Q	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	229					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TCCATTCTACCAGGAAACAGA	0.383																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(685-687)cCa>cAa		RNA polymerase II associated protein 2							101.0	99.0	100.0					1																	92789163		2203	4300	6503	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789163C>A	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.686C>A	1.37:g.92789163C>A	ENSP00000476948:p.Pro229Gln					RPAP2_ENST00000484158.1_3'UTR	p.P229Q	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	795	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	229					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.686C>A	CCDS740.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332679	0.60853	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	6.07	5.16	0.70880	.	0.114388	0.64402	D	0.000005	T	0.38957	0.1060	M	0.69823	2.125	0.30695	N	0.7509250000000001	B	0.29531	0.247	B	0.23716	0.048	T	0.39702	-0.9601	8	0.25106	T	0.35	-5.6663	13.7822	0.63089	0.2782:0.7218:0.0:0.0	.	229	Q8IXW5	RPAP2_HUMAN	Q	229	.	ENSP00000359368:P229Q	P	+	2	0	RPAP2	92561751	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.559000	0.36320	1.574000	0.49760	0.655000	0.94253	CCA		0.383	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		17	115	1	0	1.15088e-07	1	1.2561e-07	17	115				
CNOT6L	246175	broad.mit.edu	37	4	78697453	78697453	+	Silent	SNP	T	T	C	rs200743940		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr4:78697453T>C	ENST00000504123.1	-	2	229	c.99A>G	c.(97-99)aaA>aaG	p.K33K	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Silent_p.K33K			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	33	Required for interaction with CNOT1, CNOT3 and CNOT7.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCCAGTGAGATTTTTTCCCAT	0.373													T|||	1	0.000199681	0.0008	0.0	5008	,	,		16878	0.0		0.0	False		,,,				2504	0.0					ENST00000504123.1																			0				kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						c.(97-99)aaA>aaG		CCR4-NOT transcription complex, subunit 6-like							125.0	120.0	121.0					4																	78697453		1812	4081	5893	SO:0001819	synonymous_variant	246175				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	g.chr4:78697453T>C	AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.99A>G	4.37:g.78697453T>C						CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Silent_p.K33K	p.K33K			Q96LI5	CNO6L_HUMAN			2	229	-			33					Q9UF92	Silent	SNP	ENST00000504123.1	37	c.99A>G		0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	10.42	1.345305	0.24426	.	.	ENSG00000138767	ENST00000515506	.	.	.	5.42	0.364	0.16124	.	.	.	.	.	T	0.55529	0.1926	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48127	-0.9062	4	.	.	.	-21.4168	8.6696	0.34143	0.0:0.5508:0.0:0.4492	.	.	.	.	V	62	.	.	I	-	1	0	CNOT6L	78916477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.652000	0.37313	0.123000	0.18342	0.455000	0.32223	ATC		0.373	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000362515.1			27	131	0	0	0	1	0	27	131				
IDO1	3620	broad.mit.edu	37	8	39782292	39782292	+	Splice_Site	SNP	G	G	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr8:39782292G>T	ENST00000518237.1	+	8	1346		c.e8+1		IDO1_ENST00000522495.1_Splice_Site|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1						cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	ATTTGTCTGGGTATGTAGTCT	0.353																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.e8+1		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						131.0	114.0	119.0					8																	39782292		1846	4095	5941	SO:0001630	splice_region_variant	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39782292G>T	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.707+1G>T	8.37:g.39782292G>T						RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Splice_Site		NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			8	1346	+								Q540B4	Splice_Site	SNP	ENST00000518237.1	37		CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978556	0.34942	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8164	0.78604	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IDO1	39901449	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	6.305000	0.72805	2.885000	0.99019	0.643000	0.83706	.		0.353	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164	Intron	3	13	1	0	1	1	1	3	13				
MXRA5	25878	broad.mit.edu	37	X	3239737	3239737	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chrX:3239737A>G	ENST00000217939.6	-	5	4143	c.3989T>C	c.(3988-3990)gTt>gCt	p.V1330A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1330						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATTTGTGGCAACATCATCCTT	0.378																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3988-3990)gTt>gCt		matrix-remodelling associated 5							142.0	124.0	130.0					X																	3239737		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3239737A>G	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3989T>C	X.37:g.3239737A>G	ENSP00000217939:p.Val1330Ala						p.V1330A	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	4143	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1330					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3989T>C	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	a	0.058	-1.231851	0.01505	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62498	0.02	3.41	-6.81	0.01704	.	1.815480	0.04289	U	0.345241	T	0.29588	0.0738	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.30909	-0.9962	10	0.06625	T	0.88	.	1.5735	0.02620	0.3814:0.1162:0.1024:0.3999	.	1330	Q9NR99	MXRA5_HUMAN	A	1330	ENSP00000217939:V1330A	ENSP00000217939:V1330A	V	-	2	0	MXRA5	3249737	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-1.751000	0.01821	-3.134000	0.00235	-2.451000	0.00208	GTT		0.378	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		14	67	0	0	0	1	0	14	67				
SI	6476	broad.mit.edu	37	3	164716372	164716372	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:164716372C>T	ENST00000264382.3	-	38	4558	c.4496G>A	c.(4495-4497)gGa>gAa	p.G1499E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1499	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATAGTTGTCTCCAAGCCAGTG	0.388										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4495-4497)gGa>gAa		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						185.0	164.0	171.0					3																	164716372		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164716372C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4496G>A	3.37:g.164716372C>T	ENSP00000264382:p.Gly1499Glu	HNSCC(35;0.089)					p.G1499E	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			38	4558	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1499			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4496G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465544	0.84425	.	.	ENSG00000090402	ENST00000264382	D	0.98876	-5.2	4.76	4.76	0.60689	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99533	0.9833	H	0.98542	4.26	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97794	1.0240	10	0.87932	D	0	.	17.9326	0.89002	0.0:1.0:0.0:0.0	.	1499	P14410	SUIS_HUMAN	E	1499	ENSP00000264382:G1499E	ENSP00000264382:G1499E	G	-	2	0	SI	166199066	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	7.337000	0.79256	2.631000	0.89168	0.650000	0.86243	GGA		0.388	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	155	0	0	0	1	0	8	155				
NR3C1	2908	broad.mit.edu	37	5	142779482	142779482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:142779482C>G	ENST00000343796.2	-	2	1916	c.923G>C	c.(922-924)gGa>gCa	p.G308A	NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000231509.3_Missense_Mutation_p.G308A|NR3C1_ENST00000415690.2_Missense_Mutation_p.G308A|NR3C1_ENST00000394466.2_Missense_Mutation_p.G308A|NR3C1_ENST00000424646.2_Missense_Mutation_p.G308A|NR3C1_ENST00000504572.1_Missense_Mutation_p.G308A|NR3C1_ENST00000503201.1_Missense_Mutation_p.G308A|NR3C1_ENST00000394464.2_Missense_Mutation_p.G308A	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	308	Modulating.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|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 transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	TATATTTGCTCCAGGAAAGCT	0.418																																						ENST00000343796.2																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(922-924)gGa>gCa		nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)						76.0	78.0	77.0					5																	142779482		2203	4300	6503	SO:0001583	missense	2908				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr5:142779482C>G	X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.923G>C	5.37:g.142779482C>G	ENSP00000343205:p.Gly308Ala					NR3C1_ENST00000231509.3_Missense_Mutation_p.G308A|NR3C1_ENST00000394466.2_Missense_Mutation_p.G308A|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.G308A|NR3C1_ENST00000424646.2_Missense_Mutation_p.G308A|NR3C1_ENST00000503201.1_Missense_Mutation_p.G308A|NR3C1_ENST00000394464.2_Missense_Mutation_p.G308A|NR3C1_ENST00000415690.2_Missense_Mutation_p.G308A	p.G308A	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1916	-		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	308			Modulating.		A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	c.923G>C	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386015	0.61956	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000415690;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000503201	T;T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29;1.29	5.65	5.65	0.86999	.	0.248578	0.41500	D	0.000878	T	0.63414	0.2509	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.60332	-0.7284	10	0.36615	T	0.2	.	19.7202	0.96139	0.0:1.0:0.0:0.0	.	308;308;308	E5KQF5;P04150;E5KQF6	.;GCR_HUMAN;.	A	308	ENSP00000377977:G308A;ENSP00000343205:G308A;ENSP00000387672:G308A;ENSP00000405282:G308A;ENSP00000422518:G308A;ENSP00000377979:G308A;ENSP00000231509:G308A;ENSP00000427672:G308A	ENSP00000231509:G308A	G	-	2	0	NR3C1	142759675	0.999000	0.42202	1.000000	0.80357	0.918000	0.54935	3.504000	0.53347	2.656000	0.90262	0.650000	0.86243	GGA		0.418	NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1			14	144	0	0	0	1	0	14	144				
NLRP3	114548	broad.mit.edu	37	1	247588376	247588376	+	Missense_Mutation	SNP	C	C	T	rs199856287		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:247588376C>T	ENST00000336119.3	+	3	2377	c.1631C>T	c.(1630-1632)aCg>aTg	p.T544M	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.T544M|NLRP3_ENST00000366497.2_Missense_Mutation_p.T544M|NLRP3_ENST00000366496.2_Missense_Mutation_p.T544M|NLRP3_ENST00000391828.3_Missense_Mutation_p.T544M|NLRP3_ENST00000391827.2_Missense_Mutation_p.T544M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	544					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.T544M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAAGGAAGGACGAACGTTCCA	0.473																																						ENST00000366497.2																			1	Substitution - Missense(1)	p.T544M(1)	lung(1)	NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(1630-1632)aCg>aTg		NLR family, pyrin domain containing 3							59.0	52.0	55.0					1																	247588376		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588376C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1631C>T	1.37:g.247588376C>T	ENSP00000337383:p.Thr544Met					NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.T544M|NLRP3_ENST00000391827.2_Missense_Mutation_p.T544M|NLRP3_ENST00000366496.2_Missense_Mutation_p.T544M|NLRP3_ENST00000348069.2_Missense_Mutation_p.T544M|NLRP3_ENST00000391828.3_Missense_Mutation_p.T544M	p.T544M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		4	2411	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	544					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1631C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.078944	0.00375	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	3.94	-7.89	0.01174	.	1.267670	0.05320	N	0.526388	T	0.77805	0.4185	N	0.08118	0	0.09310	N	1	B;P;P;P;B	0.48911	0.0;0.917;0.584;0.91;0.389	B;B;B;B;B	0.36608	0.001;0.229;0.174;0.188;0.057	T	0.76195	-0.3048	10	0.51188	T	0.08	.	5.2885	0.15714	0.1285:0.488:0.084:0.2994	.	544;544;544;544;544	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	544	ENSP00000375704:T544M;ENSP00000355453:T544M;ENSP00000337383:T544M;ENSP00000294752:T544M;ENSP00000355452:T544M;ENSP00000375703:T544M	ENSP00000337383:T544M	T	+	2	0	NLRP3	245654999	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.641000	0.00107	-5.733000	0.00010	-0.823000	0.03104	ACG		0.473	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		8	49	0	0	0	1	0	8	49				
ACD	65057	broad.mit.edu	37	16	67691743	67691743	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr16:67691743C>A	ENST00000393919.4	-	11	1742	c.1478G>T	c.(1477-1479)aGg>aTg	p.R493M	ACD_ENST00000219251.8_Missense_Mutation_p.R490M			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	493					intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ATCACGATGCCTCTTTGGGGG	0.587																																						ENST00000219251.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1468-1470)aGg>aTg		adrenocortical dysplasia homolog (mouse)							79.0	73.0	75.0					16																	67691743		2198	4300	6498	SO:0001583	missense	65057				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	g.chr16:67691743C>A	AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1478G>T	16.37:g.67691743C>A	ENSP00000377496:p.Arg493Met					ACD_ENST00000393919.4_Missense_Mutation_p.R493M	p.R490M	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)	11	1800	-		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	493					Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	c.1469G>T	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439539	0.63067	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.35605	1.3;1.31	4.76	-2.21	0.06973	.	0.590978	0.16715	N	0.202501	T	0.42291	0.1196	L	0.60455	1.87	0.26223	N	0.979139	D;D	0.61697	0.983;0.99	P;P	0.58873	0.707;0.847	T	0.30880	-0.9963	10	0.62326	D	0.03	-2.3827	5.6888	0.17817	0.0:0.4318:0.1362:0.432	.	493;490	Q96AP0;Q96AP0-2	ACD_HUMAN;.	M	490;493	ENSP00000219251:R490M;ENSP00000377496:R493M	ENSP00000219251:R490M	R	-	2	0	ACD	66249244	0.748000	0.28294	0.872000	0.34217	0.890000	0.51754	-0.401000	0.07232	-0.300000	0.08895	-0.373000	0.07131	AGG		0.587	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1	NM_022914		27	68	1	0	1.75199e-13	1	1.96841e-13	27	68				
RPAP2	79871	broad.mit.edu	37	1	92789160	92789160	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr1:92789160T>A	ENST00000610020.1	+	8	792	c.683T>A	c.(682-684)cTa>cAa	p.L228Q	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	228					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TCCTCCATTCTACCAGGAAAC	0.383																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(682-684)cTa>cAa		RNA polymerase II associated protein 2							103.0	101.0	101.0					1																	92789160		2203	4300	6503	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789160T>A	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.683T>A	1.37:g.92789160T>A	ENSP00000476948:p.Leu228Gln					RPAP2_ENST00000484158.1_3'UTR	p.L228Q	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	792	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	228					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.683T>A	CCDS740.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173870	0.78452	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	6.07	6.07	0.98685	.	0.339777	0.29587	N	0.011730	T	0.73125	0.3547	M	0.69823	2.125	0.39659	D	0.970580	D	0.89917	1.0	D	0.76575	0.988	T	0.76732	-0.2851	8	0.59425	D	0.04	-10.6658	15.2117	0.73230	0.0:0.0:0.0:1.0	.	228	Q8IXW5	RPAP2_HUMAN	Q	228	.	ENSP00000359368:L228Q	L	+	2	0	RPAP2	92561748	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.992000	0.56980	2.326000	0.78906	0.533000	0.62120	CTA		0.383	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		18	114	0	0	0	1	0	18	114				
RTN4	57142	broad.mit.edu	37	2	55252633	55252633	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:55252633T>C	ENST00000337526.6	-	3	2845	c.2602A>G	c.(2602-2604)Ata>Gta	p.I868V	RTN4_ENST00000394611.2_Missense_Mutation_p.I662V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000404909.1_Missense_Mutation_p.I662V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.I636V|RTN4_ENST00000357376.3_Missense_Mutation_p.I662V|RTN4_ENST00000405240.1_Missense_Mutation_p.I662V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	868					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AACTCATCTATAATTTCAATT	0.333																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(2602-2604)Ata>Gta		reticulon 4							38.0	40.0	39.0					2																	55252633		2203	4295	6498	SO:0001583	missense	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55252633T>C	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2602A>G	2.37:g.55252633T>C	ENSP00000337838:p.Ile868Val					RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Missense_Mutation_p.I662V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.I662V|RTN4_ENST00000404909.1_Missense_Mutation_p.I662V|RTN4_ENST00000354474.6_Missense_Mutation_p.I636V|RTN4_ENST00000405240.1_Missense_Mutation_p.I662V|RTN4_ENST00000402434.2_Intron	p.I868V	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	2845	-			868					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	37	c.2602A>G	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.981683	0.34942	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.18810	2.21;2.21;2.19;2.21;2.21;2.22	5.45	4.28	0.50868	.	0.158203	0.44688	D	0.000439	T	0.20981	0.0505	M	0.67953	2.075	0.22639	N	0.998906	B	0.18610	0.029	B	0.12837	0.008	T	0.09840	-1.0656	10	0.28530	T	0.3	-14.6741	8.6237	0.33877	0.0:0.1509:0.0:0.8491	.	868	Q9NQC3	RTN4_HUMAN	V	662;662;868;662;662;636	ENSP00000384471:I662V;ENSP00000349944:I662V;ENSP00000337838:I868V;ENSP00000378109:I662V;ENSP00000385650:I662V;ENSP00000346465:I636V	ENSP00000337838:I868V	I	-	1	0	RTN4	55106137	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	1.827000	0.39102	2.046000	0.60703	0.533000	0.62120	ATA		0.333	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			21	86	0	0	0	1	0	21	86				
DDX21	9188	broad.mit.edu	37	10	70728861	70728861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr10:70728861C>T	ENST00000354185.4	+	7	1318	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	RN7SL373P_ENST00000577512.1_RNA	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	407					ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ACTCAGAAAACGGCAATAACT	0.328																																						ENST00000354185.4																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1219-1221)aCg>aTg		DEAD (Asp-Glu-Ala-Asp) box helicase 21							91.0	92.0	92.0					10																	70728861		2203	4300	6503	SO:0001583	missense	9188					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr10:70728861C>T	U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.1220C>T	10.37:g.70728861C>T	ENSP00000346120:p.Thr407Met						p.T407M	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN			7	1318	+			407					B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	ENST00000354185.4	37	c.1220C>T	CCDS31211.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.389041	0.61956	.	.	ENSG00000165732	ENST00000354185	T	0.20200	2.09	5.77	5.77	0.91146	DEAD-like helicase (1);	0.243986	0.47852	D	0.000201	T	0.29817	0.0745	M	0.80183	2.485	0.34727	D	0.729298	P	0.39601	0.68	B	0.31101	0.124	T	0.52034	-0.8629	10	0.87932	D	0	-41.9881	20.3627	0.98863	0.0:1.0:0.0:0.0	.	407	Q9NR30	DDX21_HUMAN	M	407	ENSP00000346120:T407M	ENSP00000346120:T407M	T	+	2	0	DDX21	70398867	1.000000	0.71417	0.955000	0.39395	0.959000	0.62525	7.445000	0.80570	2.885000	0.99019	0.655000	0.94253	ACG		0.328	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048374.1	NM_004728		10	79	0	0	0	1	0	10	79				
PCDHB7	56129	broad.mit.edu	37	5	140552561	140552561	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140552561G>C	ENST00000231137.3	+	1	319	c.145G>C	c.(145-147)Gca>Cca	p.A49P		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	49	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCAACTTGGCAAAAGACCT	0.493																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(145-147)Gca>Cca									93.0	94.0	94.0					5																	140552561		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552561G>C	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.145G>C	5.37:g.140552561G>C	ENSP00000231137:p.Ala49Pro						p.A49P	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	319	+			49			Cadherin 1.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.145G>C	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146253	0.37923	.	.	ENSG00000113212	ENST00000231137	T	0.25749	1.78	4.79	3.9	0.45041	Cadherin, N-terminal (1);	.	.	.	.	T	0.60971	0.2310	H	0.96691	3.865	0.34195	D	0.672547	D	0.60160	0.987	D	0.69479	0.964	T	0.77446	-0.2585	9	0.87932	D	0	.	10.1411	0.42736	0.0815:0.1402:0.7783:0.0	.	49	Q9Y5E2	PCDB7_HUMAN	P	49	ENSP00000231137:A49P	ENSP00000231137:A49P	A	+	1	0	PCDHB7	140532745	0.999000	0.42202	0.456000	0.27044	0.057000	0.15508	5.238000	0.65366	2.357000	0.79964	0.655000	0.94253	GCA		0.493	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		13	92	0	0	0	1	0	13	92				
PIK3R5	23533	broad.mit.edu	37	17	8790999	8790999	+	Splice_Site	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr17:8790999G>A	ENST00000447110.1	-	11	1742	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W	PIK3R5_ENST00000581552.1_Splice_Site_p.R540W|PIK3R5_ENST00000584803.1_Splice_Site_p.R540W	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	540					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTCTCCAGCCGCCTGGCAAGA	0.582																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.e11-1		phosphoinositide-3-kinase, regulatory subunit 5							33.0	27.0	29.0					17																	8790999		2202	4300	6502	SO:0001630	splice_region_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8790999G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1617-1C>T	17.37:g.8790999G>A						PIK3R5_ENST00000584803.1_Splice_Site_p.R540_splice|PIK3R5_ENST00000581552.1_Splice_Site_p.R540_splice	p.R540_splice	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			11	1742	-			540					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Splice_Site	SNP	ENST00000447110.1	37	c.1616_splice	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	8.712	0.912313	0.17907	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.78595	-1.19	4.94	1.43	0.22495	.	0.379919	0.27495	N	0.019117	T	0.64316	0.2587	N	0.24115	0.695	0.09310	N	0.999998	D	0.61697	0.99	P	0.47075	0.536	T	0.58555	-0.7616	10	0.72032	D	0.01	-15.275	5.1656	0.15084	0.086:0.0954:0.5085:0.3102	.	540	Q8WYR1	PI3R5_HUMAN	W	540	ENSP00000392812:R540W	ENSP00000269300:R540W	R	-	1	2	PIK3R5	8731724	0.617000	0.27043	0.967000	0.41034	0.705000	0.40729	0.482000	0.22276	0.533000	0.28675	0.655000	0.94253	CGG		0.582	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308	Missense_Mutation	3	10	0	0	0	1	0	3	10				
NOTCH4	4855	broad.mit.edu	37	6	32172089	32172089	+	Silent	SNP	T	T	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:32172089T>A	ENST00000375023.3	-	19	3081	c.2943A>T	c.(2941-2943)ggA>ggT	p.G981G		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	981	EGF-like 25. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGTACAGGTTCCATGGTTGT	0.562																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(2941-2943)ggA>ggT		notch 4							104.0	84.0	91.0					6																	32172089		1511	2709	4220	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32172089T>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.2943A>T	6.37:g.32172089T>A							p.G981G	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			19	3081	-			981			EGF-like 25.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.2943A>T	CCDS34420.1																																																																																				0.562	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	46	0	0	0	1	0	7	46				
PCDHGA7	56108	broad.mit.edu	37	5	140764402	140764402	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140764402G>A	ENST00000518325.1	+	1	1936	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	646	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGTGGCCGTCCAGGACCA	0.662																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(1936-1938)Gtc>Atc									36.0	43.0	41.0					5																	140764402		2198	4298	6496	SO:0001583	missense	56108							g.chr5:140764402G>A	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1936G>A	5.37:g.140764402G>A	ENSP00000430024:p.Val646Ile					PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.V646I	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1936	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1936G>A	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	18.04	3.535433	0.64972	.	.	ENSG00000253537	ENST00000518325	T	0.61510	0.1	4.9	4.9	0.64082	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69744	0.3145	M	0.70787	2.145	0.27840	N	0.941127	P;P	0.52692	0.752;0.955	P;P	0.55391	0.775;0.538	T	0.64550	-0.6381	9	0.49607	T	0.09	.	14.1384	0.65303	0.0:0.0:0.8494:0.1505	.	646;646	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	I	646	ENSP00000430024:V646I	ENSP00000430024:V646I	V	+	1	0	PCDHGA7	140744586	1.000000	0.71417	0.925000	0.36789	0.888000	0.51559	4.574000	0.60900	2.413000	0.81919	0.655000	0.94253	GTC		0.662	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		8	57	0	0	0	1	0	8	57				
CLIP4	79745	broad.mit.edu	37	2	29356553	29356553	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:29356553C>G	ENST00000320081.5	+	5	655	c.400C>G	c.(400-402)Cag>Gag	p.Q134E	CLIP4_ENST00000401605.1_Missense_Mutation_p.Q134E|CLIP4_ENST00000404424.1_Missense_Mutation_p.Q134E|CLIP4_ENST00000401617.2_Missense_Mutation_p.Q27E	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	134										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTTGCAACTCAGCTTATTGA	0.368																																						ENST00000320081.5																			0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(400-402)Cag>Gag		CAP-GLY domain containing linker protein family, member 4							102.0	96.0	98.0					2																	29356553		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29356553C>G	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.400C>G	2.37:g.29356553C>G	ENSP00000327009:p.Gln134Glu					CLIP4_ENST00000401605.1_Missense_Mutation_p.Q134E|CLIP4_ENST00000401617.2_Missense_Mutation_p.Q27E|CLIP4_ENST00000404424.1_Missense_Mutation_p.Q134E	p.Q134E	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN			5	655	+	Acute lymphoblastic leukemia(172;0.155)		134					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.400C>G	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.648597	0.29336	.	.	ENSG00000115295	ENST00000401605;ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000449202;ENST00000438819;ENST00000530644	T;T;T;T;T;T	0.64085	0.68;-0.08;0.68;0.68;0.68;0.68	5.55	4.67	0.58626	Ankyrin repeat-containing domain (4);	0.362912	0.32563	N	0.005934	T	0.44705	0.1306	N	0.08118	0	0.22989	N	0.998465	B;B	0.28783	0.222;0.222	B;B	0.31390	0.129;0.091	T	0.50448	-0.8827	10	0.62326	D	0.03	.	14.6755	0.68975	0.0:0.929:0.0:0.071	.	134;134	A8K6D0;Q8N3C7	.;CLIP4_HUMAN	E	134;27;134;134;134;135;134;27;116	ENSP00000384242:Q134E;ENSP00000385148:Q27E;ENSP00000385594:Q134E;ENSP00000327009:Q134E;ENSP00000393354:Q134E;ENSP00000392296:Q27E	ENSP00000327009:Q134E	Q	+	1	0	CLIP4	29210057	0.999000	0.42202	0.100000	0.21137	0.309000	0.27889	4.885000	0.63142	2.604000	0.88044	0.650000	0.86243	CAG		0.368	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	NM_024692		15	42	0	0	0	1	0	15	42				
MSH6	2956	broad.mit.edu	37	2	48026701	48026714	+	Frame_Shift_Del	DEL	CTGGAAGGTGATCC	CTGGAAGGTGATCC	-	rs63751090|rs587779216|rs201721694		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr2:48026701_48026714delCTGGAAGGTGATCC	ENST00000234420.5	+	4	1731_1744	c.1579_1592delCTGGAAGGTGATCC	c.(1579-1593)ctggaaggtgatcccfs	p.LEGDP527fs	MSH6_ENST00000538136.1_Frame_Shift_Del_p.LEGDP225fs|MSH6_ENST00000540021.1_Frame_Shift_Del_p.LEGDP397fs|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	527					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTACAGTGTGCTGGAAGGTGATCCCTCTGAGAAC	0.435			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229	GRCh37	CD076836	MSH6	D	rs63751090	c.(1579-1593)cfs	Mismatch excision repair (MMR)	mutS homolog 6																																				SO:0001589	frameshift_variant	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026701_48026714delCTGGAAGGTGATCC	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1579_1592delCTGGAAGGTGATCC	2.37:g.48026701_48026714delCTGGAAGGTGATCC	ENSP00000234420:p.Leu527fs					MSH6_ENST00000540021.1_Frame_Shift_Del_p.LEGDP397fs|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Frame_Shift_Del_p.LEGDP225fs	p.LEGDP527fs	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1731_1744	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	527					B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Frame_Shift_Del	DEL	ENST00000234420.5	37	c.1579_1592delCTGGAAGGTGATCC	CCDS1836.1																																																																																				0.435	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		11	85						11	85	---	---	---	---
FAM131A	131408	broad.mit.edu	37	3	184062544	184062547	+	Frame_Shift_Del	DEL	TGGG	TGGG	-	rs145523198	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr3:184062544_184062547delTGGG	ENST00000310585.4	+	3	2158_2161	c.794_797delTGGG	c.(793-798)ctgggcfs	p.LG265fs	FAM131A_ENST00000340957.5_Frame_Shift_Del_p.LG211fs|FAM131A_ENST00000418281.1_Frame_Shift_Del_p.LG173fs|FAM131A_ENST00000450976.1_Frame_Shift_Del_p.LG211fs|FAM131A_ENST00000383847.2_Frame_Shift_Del_p.LG296fs|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000453072.1_Frame_Shift_Del_p.LG211fs			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	265						extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCGCAGCCTGGGCCCACTGGAG	0.691																																						ENST00000310585.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14						c.(793-798)ccfs		family with sequence similarity 131, member A																																				SO:0001589	frameshift_variant	131408					extracellular region		g.chr3:184062544_184062547delTGGG	BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	ENST00000310585.4:c.794_797delTGGG	3.37:g.184062544_184062547delTGGG	ENSP00000310135:p.Leu265fs					FAM131A_ENST00000383847.2_Frame_Shift_Del_p.LG296fs|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Frame_Shift_Del_p.LG211fs|FAM131A_ENST00000418281.1_Frame_Shift_Del_p.LG173fs|FAM131A_ENST00000453072.1_Frame_Shift_Del_p.LG211fs|FAM131A_ENST00000450976.1_Frame_Shift_Del_p.LG211fs	p.LG265fs			Q6UXB0	F131A_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	2158_2161	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		265					D3DNT6|G5E9B1|Q8TA84	Frame_Shift_Del	DEL	ENST00000310585.4	37	c.794_797delTGGG																																																																																					0.691	FAM131A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000343462.1	NM_144635		11	181						11	181	---	---	---	---
DND1	373863	broad.mit.edu	37	5	140052285	140052285	+	Frame_Shift_Del	DEL	T	T	-	rs375722663	byFrequency	TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr5:140052285delT	ENST00000542735.1	-	3	392	c.349delA	c.(349-351)acgfs	p.T117fs		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of gene silencing by miRNA (GO:0060965)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)	p.T117fs*24(1)		central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTGCAGCGTGGCGATGGCG	0.682													T|T|-|deletion	29	0.00579073	0.0	0.0173	5008	,	,		10844	0.002		0.0139	False		,,,				2504	0.001					ENST00000542735.1																			1	Deletion - Frameshift(1)	p.T117fs*24(1)	central_nervous_system(1)	central_nervous_system(1)|prostate(4)	5						c.(349-351)cgfs		DND microRNA-mediated repression inhibitor 1							6.0	7.0	6.0					5																	140052285		2084	4099	6183	SO:0001589	frameshift_variant	373863				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding	g.chr5:140052285delT	AY321065	CCDS4236.1	5q31.3	2013-07-31	2013-07-31		ENSG00000256453	ENSG00000256453		"""RNA binding motif (RRM) containing"""	23799	protein-coding gene	gene with protein product		609385	"""dead end homolog 1 (zebrafish)"""			12932328	Standard	NM_194249		Approved	MGC34750, RBMS4	uc003lgt.3	Q8IYX4	OTTHUMG00000129499	ENST00000542735.1:c.349delA	5.37:g.140052285delT	ENSP00000445366:p.Thr117fs						p.T117fs	NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	392	-			117			RRM 1.			Frame_Shift_Del	DEL	ENST00000542735.1	37	c.349delA	CCDS4236.1																																																																																				0.682	DND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251669.2	NM_194249		4	6						4	6	---	---	---	---
TTK	7272	broad.mit.edu	37	6	80751896	80751897	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:80751896_80751897insA	ENST00000369798.2	+	22	2662_2663	c.2551_2552insA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000230510.3_Frame_Shift_Ins_p.E850fs|TTK_ENST00000509894.1_Frame_Shift_Ins_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CAAGACTTTTGAAAAAAAAAGG	0.302																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)aaafs		TTK protein kinase																																				SO:0001589	frameshift_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80751896_80751897insA		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2560dupA	6.37:g.80751905_80751905dupA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Ins_p.K850fs|TTK_ENST00000369798.2_Frame_Shift_Ins_p.K851fs	p.K850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3377_3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Ins	INS	ENST00000369798.2	37	c.2548_2549insA	CCDS4993.1																																																																																				0.302	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			8	92						8	92	---	---	---	---
PLG	5340	broad.mit.edu	37	6	161139457	161139457	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr6:161139457delC	ENST00000308192.9	+	8	982	c.919delC	c.(919-921)catfs	p.H307fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	307	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCCTCACACACATAACAGGAC	0.512																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(919-921)atfs		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						142.0	145.0	144.0					6																	161139457		2203	4300	6503	SO:0001589	frameshift_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161139457delC	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.919delC	6.37:g.161139457delC	ENSP00000308938:p.His307fs						p.H307fs	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	8	982	+			307			Kringle 3.		Q15146|Q5TEH4|Q6PA00	Frame_Shift_Del	DEL	ENST00000308192.9	37	c.919delC	CCDS5279.1																																																																																				0.512	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		13	115						13	115	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs200787919|rs68192524|rs5003690		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGGAACAAGTGGTGCCTAAGAA	0.416																																						ENST00000532855.1																			2	Insertion - Frameshift(2)	p.N211fs*20(2)	upper_aerodigestive_tract(1)|prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)			3692,6		1844,4,1						-0.2	0.9		dbSNP_113	54	7905,5		3951,3,1	no	frameshift	MMP12	NM_002426.4		5795,7,2	A1A1,A1R,RR		0.0632,0.1622,0.0948				11597,11						4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738795_102738796insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738795_102738796insT										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	725_726	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		7	10						7	10	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23842343	23842350	+	Frame_Shift_Del	DEL	AGATTAGG	AGATTAGG	-			TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr14:23842343_23842350delAGATTAGG	ENST00000329715.2	+	1	274_281	c.16_23delAGATTAGG	c.(16-24)agattaggtfs	p.RLG6fs	IL25_ENST00000397242.2_Intron	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	6					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		GGAGCGACCCAGATTAGGTGAGGACAGT	0.596																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(16-24)tfs		interleukin 25																																				SO:0001589	frameshift_variant	64806				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23842343_23842350delAGATTAGG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.16_23delAGATTAGG	14.37:g.23842343_23842350delAGATTAGG	ENSP00000328111:p.Arg6fs					IL25_ENST00000397242.2_Intron	p.RLG6fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	1	274_281	+	all_cancers(95;2e-05)		6					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.16_23delAGATTAGG	CCDS9597.1																																																																																				0.596	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			13	116						13	116	---	---	---	---
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T	rs372975149		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402				U8_ENST00000384701.1_RNA	NR_026859.1				ULK4 pseudogene 3																		TGCCTCAAAAGTTTTTTTTTTT	0.297																																						ENST00000568486.1																			0																																																			89837							g.chr15:30406088_30406089insT	BC023564		15q13.2	2014-03-20	2013-09-12	2011-11-25	ENSG00000178081	ENSG00000178081			15777	pseudogene	pseudogene			"""family with sequence similarity 7, member A3"", ""unc-51-like kinase 4 (C. elegans) pseudogene 3"""	FAM7A3		11829490	Standard	NR_026859		Approved	D-X	uc001zdk.3		OTTHUMG00000175637		15.37:g.30406099_30406099dupT								NR_026859.1						0	402	+									RNA	INS	ENST00000568486.1	37																																																																																						0.297	ULK4P3-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000430688.1			7	30						7	30	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11049306	11049307	+	RNA	INS	-	-	T	rs57143135		TCGA-CV-7433-01A-11D-2129-08	TCGA-CV-7433-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15380da5-6a0b-4649-b21b-ce1ed7d61b67	717e9800-2dac-4894-a61b-8c3cb6082364	g.chr21:11049306_11049307insT	ENST00000470054.1	-	0	659							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATATCCAGTAATTTTTTTAAGT	0.272																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11049306_11049307insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049313_11049313dupT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	659	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.272	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	69						7	69	---	---	---	---
