#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
ZNRF4	148066	broad.mit.edu	37	19	5455986	5455986	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:5455986C>T	ENST00000222033.4	+	1	561	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	162	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CGTGCTGATCCGCCGCTACGA	0.667																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(484-486)Cgc>Tgc		zinc and ring finger 4							32.0	35.0	34.0					19																	5455986		2136	4244	6380	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455986C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.484C>T	19.37:g.5455986C>T	ENSP00000222033:p.Arg162Cys						p.R162C	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	561	+			162			PA.		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.484C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.322271	0.41096	.	.	ENSG00000105428	ENST00000222033	T	0.09255	3.0	4.65	4.65	0.58169	Protease-associated domain, PA (1);	0.067181	0.64402	U	0.000015	T	0.32615	0.0835	M	0.92459	3.31	0.22050	N	0.999398	D	0.56521	0.976	P	0.52031	0.688	T	0.42666	-0.9438	10	0.72032	D	0.01	-27.1863	14.2204	0.65823	0.0:1.0:0.0:0.0	.	162	Q8WWF5	ZNRF4_HUMAN	C	162	ENSP00000222033:R162C	ENSP00000222033:R162C	R	+	1	0	ZNRF4	5406986	0.931000	0.31567	0.021000	0.16686	0.106000	0.19336	1.265000	0.33027	2.140000	0.66376	0.491000	0.48974	CGC		0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		6	68	0	0	0	1	0	6	68				
TMEM57	55219	broad.mit.edu	37	1	25780788	25780788	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:25780788C>T	ENST00000374343.4	+	4	567	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Missense_Mutation_p.L130F|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	130					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTGGATCCTCTTTGTTTA	0.383																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(388-390)Ctc>Ttc		transmembrane protein 57							138.0	129.0	132.0					1																	25780788		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25780788C>T	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.388C>T	1.37:g.25780788C>T	ENSP00000363463:p.Leu130Phe					TMEM57_ENST00000399766.3_Missense_Mutation_p.L130F|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_3'UTR	p.L130F	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	4	567	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	130					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.388C>T	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492210	0.64074	.	.	ENSG00000204178	ENST00000399766;ENST00000374343	T;T	0.80214	-1.35;2.46	6.03	6.03	0.97812	.	0.059434	0.64402	D	0.000003	D	0.88514	0.6457	M	0.74258	2.255	0.80722	D	1	D;P	0.69078	0.997;0.793	D;P	0.78314	0.991;0.809	D	0.88342	0.2975	10	0.56958	D	0.05	-3.7181	12.8598	0.57908	0.0:0.9265:0.0:0.0735	.	130;130	Q8N5G2-3;Q8N5G2	.;MACOI_HUMAN	F	130	ENSP00000382668:L130F;ENSP00000363463:L130F	ENSP00000363463:L130F	L	+	1	0	TMEM57	25653375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.015000	0.57152	2.880000	0.98712	0.650000	0.86243	CTC		0.383	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		24	62	0	0	0	1	0	24	62				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	73	0	0	0	1	0	5	73				
C17orf97	400566	broad.mit.edu	37	17	263198	263198	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:263198C>G	ENST00000360127.6	+	2	580	c.564C>G	c.(562-564)atC>atG	p.I188M	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	188										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGATTCGCATCTATAAACTGA	0.567																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(562-564)atC>atG		chromosome 17 open reading frame 97							67.0	75.0	72.0					17																	263198		2203	4300	6503	SO:0001583	missense	400566							g.chr17:263198C>G	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.564C>G	17.37:g.263198C>G	ENSP00000353245:p.Ile188Met					C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.I188M	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	580	+			188					A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.564C>G	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	C	11.95	1.790947	0.31685	.	.	ENSG00000187624	ENST00000360127;ENST00000491373	T;T	0.59083	0.97;0.29	5.02	-10.0	0.00425	.	0.574543	0.14392	N	0.322452	T	0.48059	0.1479	L	0.27053	0.805	0.09310	N	0.999991	D	0.76494	0.999	D	0.65010	0.931	T	0.56780	-0.7922	10	0.48119	T	0.1	-33.2492	5.3725	0.16146	0.1475:0.5081:0.0699:0.2746	.	188	Q6ZQX7-4	.	M	188;182	ENSP00000353245:I188M;ENSP00000419482:I182M	ENSP00000353245:I188M	I	+	3	3	C17orf97	263514	0.000000	0.05858	0.000000	0.03702	0.304000	0.27724	-3.016000	0.00645	-2.433000	0.00555	-0.262000	0.10625	ATC		0.567	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		14	65	0	0	0	1	0	14	65				
PTPRM	5797	broad.mit.edu	37	18	8379305	8379305	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:8379305G>C	ENST00000332175.8	+	26	4751	c.3714G>C	c.(3712-3714)gaG>gaC	p.E1238D	PTPRM_ENST00000580170.1_Missense_Mutation_p.E1251D|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1176D|PTPRM_ENST00000444013.1_Missense_Mutation_p.E1025D|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1252D	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1238	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCGATGGGGAGAGCAGCAACT	0.617																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(3712-3714)gaG>gaC		protein tyrosine phosphatase, receptor type, M							108.0	83.0	91.0					18																	8379305		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8379305G>C	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3714G>C	18.37:g.8379305G>C	ENSP00000331418:p.Glu1238Asp					PTPRM_ENST00000400060.4_Missense_Mutation_p.E1252D|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1176D|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1251D|PTPRM_ENST00000444013.1_Missense_Mutation_p.E1025D	p.E1238D	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			26	4751	+		Colorectal(10;0.234)	1238			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3714G>C	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366174	0.82463	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	N	0.25957	0.775	0.80722	D	1	B;P;D	0.63046	0.225;0.543;0.992	B;B;D	0.76071	0.439;0.193;0.987	T	0.00609	-1.1646	10	0.33141	T	0.24	.	15.8933	0.79318	0.0658:0.0:0.9342:0.0	.	1025;1251;1238	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	D	1238;1252;1176;1025	ENSP00000331418:E1238D;ENSP00000382933:E1252D;ENSP00000382927:E1176D;ENSP00000387608:E1025D	ENSP00000331418:E1238D	E	+	3	2	PTPRM	8369305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.875000	0.48491	2.941000	0.99782	0.655000	0.94253	GAG		0.617	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			16	63	0	0	0	1	0	16	63				
MCM3AP	8888	broad.mit.edu	37	21	47680808	47680808	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr21:47680808C>G	ENST00000397708.1	-	16	3734	c.3480G>C	c.(3478-3480)gaG>gaC	p.E1160D	MCM3AP_ENST00000467026.1_5'Flank|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1160D			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1160					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCAGCTCTCTCTCTTGTTTCA	0.483																																						ENST00000397708.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72						c.(3478-3480)gaG>gaC		minichromosome maintenance complex component 3 associated protein							100.0	93.0	95.0					21																	47680808		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47680808C>G	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.3480G>C	21.37:g.47680808C>G	ENSP00000380820:p.Glu1160Asp					MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1160D	p.E1160D			O60318	MCM3A_HUMAN			16	3734	-	Breast(49;0.112)		1160					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.3480G>C	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472243	0.43942	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	D;D	0.88124	-2.34;-2.34	5.35	2.57	0.30868	.	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	L	0.32530	0.975	0.36334	D	0.859077	D	0.56968	0.978	P	0.50659	0.647	D	0.83591	0.0123	10	0.59425	D	0.04	-27.6669	8.5974	0.33723	0.0:0.665:0.0:0.335	.	1160	O60318	MCM3A_HUMAN	D	1160	ENSP00000380820:E1160D;ENSP00000291688:E1160D	ENSP00000291688:E1160D	E	-	3	2	MCM3AP	46505236	1.000000	0.71417	0.998000	0.56505	0.291000	0.27294	0.909000	0.28558	0.257000	0.21650	0.591000	0.81541	GAG		0.483	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		18	58	0	0	0	1	0	18	58				
DCDC1	341019	broad.mit.edu	37	11	30937110	30937110	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:30937110C>G	ENST00000597505.1	-	25	3600	c.3601G>C	c.(3601-3603)Gag>Cag	p.E1201Q	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E280Q			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GATTTCTTCTCCACCAAAACC	0.463																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(3601-3603)Gag>Cag		doublecortin domain containing 1							151.0	136.0	141.0					11																	30937110		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30937110C>G	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3601G>C	11.37:g.30937110C>G	ENSP00000472625:p.Glu1201Gln					DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E280Q	p.E1201Q			P59894	DCDC1_HUMAN			25	3600	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.3601G>C		.	.	.	.	.	.	.	.	.	.	C	12.44	1.938378	0.34189	.	.	ENSG00000170959	ENST00000339794	T	0.47177	0.85	5.64	2.34	0.29019	Ricin B-related lectin (1);Ricin B lectin (2);	0.244798	0.28312	N	0.015813	T	0.38295	0.1035	L	0.32530	0.975	0.21878	N	0.999493	P	0.44946	0.846	P	0.44860	0.462	T	0.17684	-1.0361	10	0.46703	T	0.11	-3.4124	9.6741	0.40030	0.0:0.7345:0.0:0.2655	.	280	Q6ZRR9	DCDC5_HUMAN	Q	280	ENSP00000341700:E280Q	ENSP00000341700:E280Q	E	-	1	0	DCDC5	30893686	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	1.039000	0.30266	0.759000	0.33084	-0.136000	0.14681	GAG		0.463	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		18	88	0	0	0	1	0	18	88				
RBL1	5933	broad.mit.edu	37	20	35661155	35661155	+	Silent	SNP	C	C	T	rs139292363	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:35661155C>T	ENST00000373664.3	-	16	2361	c.2295G>A	c.(2293-2295)caG>caA	p.Q765Q	RBL1_ENST00000344359.3_Silent_p.Q765Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	765	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCAGATTGGTCTGTTTTGGAG	0.388													C|||	2	0.000399361	0.0	0.0	5008	,	,		17189	0.0		0.002	False		,,,				2504	0.0					ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(2293-2295)caG>caA		retinoblastoma-like 1 (p107)		C	,	4,4402	8.1+/-20.4	0,4,2199	232.0	213.0	219.0		2295,2295	-1.8	0.4	20	dbSNP_134	219	25,8575	17.9+/-57.8	0,25,4275	no	coding-synonymous,coding-synonymous	RBL1	NM_002895.2,NM_183404.1	,	0,29,6474	TT,TC,CC		0.2907,0.0908,0.223	,	765/1069,765/1015	35661155	29,12977	2203	4300	6503	SO:0001819	synonymous_variant	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35661155C>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.2295G>A	20.37:g.35661155C>T						RBL1_ENST00000344359.3_Silent_p.Q765Q	p.Q765Q	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			16	2361	-		Myeloproliferative disorder(115;0.00878)	765			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	c.2295G>A	CCDS13289.1																																																																																				0.388	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		46	153	0	0	0	1	0	46	153				
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	T	rs587780070		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:7578395G>T	ENST00000269305.4	-	5	724	c.535C>A	c.(535-537)Cat>Aat	p.H179N	TP53_ENST00000359597.4_Missense_Mutation_p.H179N|TP53_ENST00000420246.2_Missense_Mutation_p.H179N|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179N|TP53_ENST00000445888.2_Missense_Mutation_p.H179N|TP53_ENST00000455263.2_Missense_Mutation_p.H179N	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)	CAGCGCTCATGGTGGGGGCAG	0.642		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"""		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(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	CM067054	TP53	M		c.(535-537)Cat>Aat	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578395		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.chr17:7578395G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>A	17.37:g.7578395G>T	ENSP00000269305:p.His179Asn	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.H179N|TP53_ENST00000269305.4_Missense_Mutation_p.H179N|TP53_ENST00000413465.2_Missense_Mutation_p.H179N|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179N|TP53_ENST00000455263.2_Missense_Mutation_p.H179N	p.H179N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.129353	0.94473	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.85;-7.85;-7.85;-7.85;-7.85;-7.85;-7.85;-7.85	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99923	0.9964	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.985;1.0;0.993;1.0;0.994;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.967;0.998;0.958;1.0;0.993;0.996;0.98	D	0.96235	0.9171	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179N;ENSP00000352610:H179N;ENSP00000269305:H179N;ENSP00000398846:H179N;ENSP00000391127:H179N;ENSP00000391478:H179N;ENSP00000425104:H47N;ENSP00000423862:H86N	ENSP00000269305:H179N	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	42	1	0	1.39806e-14	1	1.48589e-14	26	42				
DOCK8	81704	broad.mit.edu	37	9	379800	379800	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:379800G>A	ENST00000453981.1	+	21	2582	c.2470G>A	c.(2470-2472)Gtg>Atg	p.V824M	DOCK8_ENST00000382331.1_Missense_Mutation_p.V126M|DOCK8_ENST00000432829.2_Missense_Mutation_p.V756M|DOCK8_ENST00000469391.1_Missense_Mutation_p.V756M|DOCK8_ENST00000382329.1_Missense_Mutation_p.V291M			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	824					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTTCGAGTCCGTGGTGGCCAT	0.557																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(2266-2268)Gtg>Atg		dedicator of cytokinesis 8							126.0	108.0	114.0					9																	379800		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:379800G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2470G>A	9.37:g.379800G>A	ENSP00000408464:p.Val824Met					DOCK8_ENST00000382331.1_Missense_Mutation_p.V126M|DOCK8_ENST00000469391.1_Missense_Mutation_p.V756M|DOCK8_ENST00000382329.1_Missense_Mutation_p.V291M|DOCK8_ENST00000453981.1_Missense_Mutation_p.V824M	p.V756M	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	21	2582	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	824					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.2266G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273883	0.23221	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	L	0.32530	0.975	0.80722	D	1	D;B;B;P	0.89917	1.0;0.143;0.285;0.644	D;B;B;B	0.91635	0.999;0.044;0.072;0.126	T	0.12167	-1.0558	10	0.15066	T	0.55	.	19.2789	0.94044	0.0:0.0:1.0:0.0	.	126;756;291;824	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	M	824;824;756;756;126;291	ENSP00000408464:V824M;ENSP00000394888:V756M;ENSP00000419438:V756M;ENSP00000371768:V126M;ENSP00000371766:V291M	ENSP00000287364:V824M	V	+	1	0	DOCK8	369800	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	5.672000	0.68102	2.561000	0.86390	0.555000	0.69702	GTG		0.557	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		25	115	0	0	0	1	0	25	115				
PRUNE2	158471	broad.mit.edu	37	9	79324833	79324833	+	Missense_Mutation	SNP	G	G	T	rs544937199		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:79324833G>T	ENST00000376718.3	-	8	2480	c.2357C>A	c.(2356-2358)aCa>aAa	p.T786K	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T427K	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	786					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCATCATCTGTAGGATTTCC	0.493																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(1279-1281)aCa>aAa		prune homolog 2 (Drosophila)							39.0	36.0	37.0					9																	79324833		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324833G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2357C>A	9.37:g.79324833G>T	ENSP00000365908:p.Thr786Lys					PRUNE2_ENST00000376718.3_Missense_Mutation_p.T786K	p.T427K			Q8WUY3	PRUN2_HUMAN			8	2480	-			786					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.1280C>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.246|8.246	0.807939|0.807939	0.16467|0.16467	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.21031|.	2.03;2.03|.	5.71|5.71	3.77|3.77	0.43336|0.43336	.|.	0.613819|.	0.14730|.	N|.	0.301828|.	T|.	0.28001|.	0.0690|.	L|L	0.29908|0.29908	0.895|0.895	0.20307|0.20307	N|N	0.999919|0.999919	P|.	0.38922|.	0.651|.	B|.	0.27887|.	0.084|.	T|.	0.16158|.	-1.0412|.	10|.	0.66056|.	D|.	0.02|.	-0.2239|-0.2239	6.9759|6.9759	0.24674|0.24674	0.0861:0.0:0.6516:0.2623|0.0861:0.0:0.6516:0.2623	.|.	786|.	Q8WUY3|.	PRUN2_HUMAN|.	K|X	786;427;785|107	ENSP00000365908:T786K;ENSP00000397425:T427K|.	ENSP00000365908:T786K|.	T|Y	-|-	2|3	0|2	PRUNE2|PRUNE2	78514653|78514653	0.005000|0.005000	0.15991|0.15991	0.002000|0.002000	0.10522|0.10522	0.167000|0.167000	0.22549|0.22549	1.266000|1.266000	0.33039|0.33039	1.419000|1.419000	0.47118|0.47118	0.462000|0.462000	0.41574|0.41574	ACA|TAC		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		7	15	1	0	8.12818e-05	1	8.16842e-05	7	15				
LPCAT2	54947	broad.mit.edu	37	16	55563782	55563782	+	Missense_Mutation	SNP	C	C	T	rs142700202		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:55563782C>T	ENST00000262134.5	+	4	749	c.565C>T	c.(565-567)Cgt>Tgt	p.R189C		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	189					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TTTGGTGTCCCGTGTAGATCC	0.398																																						ENST00000262134.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(565-567)Cgt>Tgt		lysophosphatidylcholine acyltransferase 2		C	CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	55.0	55.0	55.0		565	5.3	1.0	16	dbSNP_134	55	0,8600		0,0,4300	no	missense	LPCAT2	NM_017839.4	180	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	189/545	55563782	1,12995	2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55563782C>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.565C>T	16.37:g.55563782C>T	ENSP00000262134:p.Arg189Cys						p.R189C	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN			4	749	+			189					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.565C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667819	0.88348	2.27E-4	0.0	ENSG00000087253	ENST00000262134	D	0.99214	-5.57	5.29	5.29	0.74685	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	H	0.96970	3.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97562	1.0099	10	0.87932	D	0	-14.2005	19.3057	0.94161	0.0:1.0:0.0:0.0	.	189	Q7L5N7	PCAT2_HUMAN	C	189	ENSP00000262134:R189C	ENSP00000262134:R189C	R	+	1	0	LPCAT2	54121283	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.993000	0.63895	2.644000	0.89710	0.650000	0.86243	CGT		0.398	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	NM_017839		4	12	0	0	0	1	0	4	12				
LCT	3938	broad.mit.edu	37	2	136587242	136587242	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:136587242G>A	ENST00000264162.2	-	3	735	c.725C>T	c.(724-726)aCg>aTg	p.T242M		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	242	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GAAATCGACCGTGTCCTGAAA	0.418																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(724-726)aCg>aTg		lactase							118.0	119.0	119.0					2																	136587242		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136587242G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.725C>T	2.37:g.136587242G>A	ENSP00000264162:p.Thr242Met						p.T242M	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	3	735	-			242			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.725C>T	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309380	0.23821	.	.	ENSG00000115850	ENST00000264162	T	0.34472	1.36	5.21	2.38	0.29361	Glycoside hydrolase, superfamily (1);	1.118330	0.06641	N	0.761006	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	B	0.30584	0.286	B	0.23275	0.045	T	0.21690	-1.0238	10	0.35671	T	0.21	-0.0045	8.1793	0.31300	0.2591:0.0:0.7409:0.0	.	242	P09848	LPH_HUMAN	M	242	ENSP00000264162:T242M	ENSP00000264162:T242M	T	-	2	0	LCT	136303712	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	1.187000	0.32090	0.337000	0.23665	-0.251000	0.11542	ACG		0.418	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		18	63	0	0	0	1	0	18	63				
EIF3L	51386	broad.mit.edu	37	22	38247441	38247441	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr22:38247441C>G	ENST00000406934.1	+	2	738	c.23C>G	c.(22-24)tCt>tGt	p.S8C	ANKRD54_ENST00000609454.1_5'Flank|EIF3L_ENST00000412331.2_Silent_p.V79V|EIF3L_ENST00000381683.6_Silent_p.V79V|EIF3L_ENST00000476955.1_3'UTR					eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCAGTCGTGTCTCCAGTGATG	0.473																																						ENST00000406934.1																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(22-24)tCt>tGt		eukaryotic translation initiation factor 3, subunit L							89.0	80.0	83.0					22																	38247441		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38247441C>G	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000406934.1:c.23C>G	22.37:g.38247441C>G	ENSP00000384634:p.Ser8Cys					EIF3L_ENST00000412331.2_Silent_p.V79V|EIF3L_ENST00000381683.6_Silent_p.V79V|EIF3L_ENST00000476955.1_3'UTR	p.S8C			Q9Y262	EIF3L_HUMAN			2	738	+			0						Missense_Mutation	SNP	ENST00000406934.1	37	c.23C>G		.	.	.	.	.	.	.	.	.	.	C	13.63	2.294250	0.40594	.	.	ENSG00000100129	ENST00000406934	T	0.47528	0.84	5.18	-1.03	0.10102	.	.	.	.	.	T	0.44030	0.1274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47724	-0.9095	6	0.72032	D	0.01	-27.4832	1.7871	0.03044	0.1908:0.3421:0.2752:0.1919	.	.	.	.	C	8	ENSP00000384634:S8C	ENSP00000384634:S8C	S	+	2	0	EIF3L	36577387	0.385000	0.25172	0.976000	0.42696	0.730000	0.41778	-0.430000	0.06973	0.033000	0.15463	0.561000	0.74099	TCT		0.473	EIF3L-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000319552.1	NM_016091		12	20	0	0	0	1	0	12	20				
ENTPD1	953	broad.mit.edu	37	10	97602196	97602196	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:97602196C>A	ENST00000371205.4	+	4	641	c.358C>A	c.(358-360)Cag>Aag	p.Q120K	ENTPD1_ENST00000371207.3_Missense_Mutation_p.Q132K|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000453258.2_Missense_Mutation_p.Q127K|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Missense_Mutation_p.Q12K			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	120					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TCCAAGGTCCCAGCACCAAGA	0.488																																						ENST00000371207.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16						c.(394-396)Cag>Aag		ectonucleoside triphosphate diphosphohydrolase 1							88.0	90.0	89.0					10																	97602196		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97602196C>A	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.358C>A	10.37:g.97602196C>A	ENSP00000360248:p.Gln120Lys					ENTPD1_ENST00000543964.1_Missense_Mutation_p.Q12K|ENTPD1_ENST00000539125.1_Intron|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371203.5_Intron|ENTPD1_ENST00000371205.4_Missense_Mutation_p.Q120K|ENTPD1_ENST00000453258.2_Missense_Mutation_p.Q127K	p.Q132K	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	4	457	+		Colorectal(252;0.0821)	120					A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.394C>A	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270767	0.40194	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000543964;ENST00000371205	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.26	-0.37	0.12530	.	0.478353	0.23939	N	0.043062	T	0.05502	0.0145	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.13594	0.008;0.007;0.003;0.008;0.003	B;B;B;B;B	0.18561	0.022;0.013;0.011;0.022;0.02	T	0.45396	-0.9264	10	0.05721	T	0.95	-2.69	8.3973	0.32564	0.5704:0.3518:0.0:0.0778	.	132;132;127;120;127	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	K	127;127;132;12;120	ENSP00000390955:Q127K;ENSP00000360250:Q132K;ENSP00000442968:Q12K;ENSP00000360248:Q120K	ENSP00000360248:Q120K	Q	+	1	0	ENTPD1	97592186	0.355000	0.24921	0.000000	0.03702	0.909000	0.53808	0.963000	0.29293	-0.233000	0.09797	0.591000	0.81541	CAG		0.488	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		16	80	1	0	1.15088e-07	1	1.19198e-07	16	80				
IL5	3567	broad.mit.edu	37	5	131879115	131879115	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:131879115G>A	ENST00000231454.1	-	1	99	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5	19					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of eosinophil differentiation (GO:0045645)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of podosome assembly (GO:0071803)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-5 receptor binding (GO:0005137)			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	TGTGGGGATGGCATACACGTA	0.458																																						ENST00000231454.1																			0				endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4						c.(55-57)gCc>gTc		interleukin 5 (colony-stimulating factor, eosinophil)	Pranlukast(DB01411)						176.0	162.0	166.0					5																	131879115		2203	4300	6503	SO:0001583	missense	3567				immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding	g.chr5:131879115G>A	X04688	CCDS4156.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000113525	ENSG00000113525		"""Interleukins and interleukin receptors"""	6016	protein-coding gene	gene with protein product	"""interleukin-5"", ""T-cell replacing factor"", ""B cell differentiation factor I"", ""eosinophil differentiation factor"", ""colony-stimulating factor, eosinophil"""	147850	"""interleukin 5 (colony-stimulating factor, eosinophil)"""			3498940	Standard	NM_000879		Approved	IL-5, EDF, TRF	uc003kxe.1	P05113	OTTHUMG00000059496	ENST00000231454.1:c.56C>T	5.37:g.131879115G>A	ENSP00000231454:p.Ala19Val						p.A19V	NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	99	-		all_cancers(142;0.0368)|Breast(839;0.198)	19					Q13840	Missense_Mutation	SNP	ENST00000231454.1	37	c.56C>T	CCDS4156.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611030	0.28712	.	.	ENSG00000113525	ENST00000231454	.	.	.	5.46	-1.11	0.09840	.	0.271298	0.26183	N	0.025845	T	0.29588	0.0738	L	0.52126	1.63	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.16070	-1.0415	9	0.46703	T	0.11	-0.8878	5.077	0.14636	0.3084:0.2911:0.4006:0.0	.	19	P05113	IL5_HUMAN	V	19	.	ENSP00000231454:A19V	A	-	2	0	IL5	131907014	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.446000	0.06837	0.022000	0.15160	0.557000	0.71058	GCC		0.458	IL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132339.1	NM_000879		4	114	0	0	0	1	0	4	114				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		9	47	0	0	0	1	0	9	47				
SLC22A14	9389	broad.mit.edu	37	3	38349158	38349158	+	Missense_Mutation	SNP	G	G	A	rs146612743		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:38349158G>A	ENST00000273173.4	+	3	813	c.722G>A	c.(721-723)cGc>cAc	p.R241H	SLC22A14_ENST00000448498.1_Missense_Mutation_p.R241H	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	241					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)		TTGTTCTTTCGCTTTGGCATC	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19864	0.001		0.0	False		,,,				2504	0.0					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.(721-723)cGc>cAc		solute carrier family 22, member 14		G	HIS/ARG	0,4406		0,0,2203	200.0	188.0	192.0		722	3.2	1.0	3	dbSNP_134	192	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SLC22A14	NM_004803.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	241/595	38349158	1,13005	2203	4300	6503	SO:0001583	missense	9389					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38349158G>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.722G>A	3.37:g.38349158G>A	ENSP00000273173:p.Arg241His					SLC22A14_ENST00000448498.1_Missense_Mutation_p.R241H	p.R241H	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)	3	813	+			241					A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	c.722G>A	CCDS2677.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.08	1.253582	0.22965	0.0	1.16E-4	ENSG00000144671	ENST00000466887;ENST00000448498;ENST00000423219;ENST00000273173	D;D;D	0.90197	-2.63;-2.63;-2.63	5.0	3.17	0.36434	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.120583	0.51477	D	0.000081	D	0.89487	0.6729	M	0.75085	2.285	0.42286	D	0.992112	P	0.41624	0.757	B	0.41135	0.348	D	0.89760	0.3946	10	0.87932	D	0	.	10.4154	0.44318	0.1756:0.0:0.8244:0.0	.	241	Q9Y267	S22AE_HUMAN	H	109;241;241;241	ENSP00000442528:R109H;ENSP00000396283:R241H;ENSP00000273173:R241H	ENSP00000273173:R241H	R	+	2	0	SLC22A14	38324162	0.998000	0.40836	1.000000	0.80357	0.018000	0.09664	1.901000	0.39838	1.256000	0.44068	-0.137000	0.14449	CGC		0.572	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803		33	122	0	0	0	1	0	33	122				
DNASE2	1777	broad.mit.edu	37	19	12984814	12984814	+	IGR	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:12984814G>A	ENST00000222219.3	-	0	1955				AC020934.1_ENST00000578125.1_RNA|MAST1_ENST00000251472.4_Silent_p.A1281A	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal						apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGAAGGGCGCGCTGCGCAAAC	0.677																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(3841-3843)gcG>gcA		microtubule associated serine/threonine kinase 1							16.0	17.0	17.0					19																	12984814		2202	4300	6502	SO:0001628	intergenic_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12984814G>A	AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115			19.37:g.12984814G>A							p.A1281A	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			26	3882	+			1281					B2RD06|B7Z4K6|O43910	Silent	SNP	ENST00000222219.3	37	c.3843G>A	CCDS12284.1																																																																																				0.677	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451790.1			5	11	0	0	0	1	0	5	11				
SLAIN2	57606	broad.mit.edu	37	4	48381835	48381835	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:48381835G>C	ENST00000264313.6	+	4	1250	c.832G>C	c.(832-834)Gta>Cta	p.V278L	SLAIN2_ENST00000512093.1_Missense_Mutation_p.V85L	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	278					cytoplasmic microtubule organization (GO:0031122)|microtubule nucleation (GO:0007020)|positive regulation of microtubule polymerization (GO:0031116)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						TGTAACTGATGTACAGATTCT	0.328																																						ENST00000264313.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						c.(832-834)Gta>Cta		SLAIN motif family, member 2							161.0	158.0	159.0					4																	48381835		1832	4084	5916	SO:0001583	missense	57606					centrosome		g.chr4:48381835G>C	BC006139	CCDS47051.1	4p12	2008-02-05	2006-09-12	2006-09-12	ENSG00000109171	ENSG00000109171			29282	protein-coding gene	gene with protein product		610492	"""KIAA1458"""	KIAA1458		16546155	Standard	NM_020846		Approved	FLJ21611	uc003gya.4	Q9P270	OTTHUMG00000161701	ENST00000264313.6:c.832G>C	4.37:g.48381835G>C	ENSP00000264313:p.Val278Leu					SLAIN2_ENST00000512093.1_Missense_Mutation_p.V85L	p.V278L	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN			4	1250	+			278					A8K4P1|Q8N5R3	Missense_Mutation	SNP	ENST00000264313.6	37	c.832G>C	CCDS47051.1	.	.	.	.	.	.	.	.	.	.	G	30	5.057057	0.93846	.	.	ENSG00000109171	ENST00000264313;ENST00000512093	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83330	0.5231	M	0.79475	2.455	0.80722	D	1	D	0.67145	0.996	D	0.77557	0.99	D	0.83898	0.0288	9	0.72032	D	0.01	-7.6425	20.2956	0.98549	0.0:0.0:1.0:0.0	.	278	Q9P270	SLAI2_HUMAN	L	278;85	.	ENSP00000264313:V278L	V	+	1	0	SLAIN2	48076592	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.476000	0.97823	2.805000	0.96524	0.460000	0.39030	GTA		0.328	SLAIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365807.4	NM_020846		38	113	0	0	0	1	0	38	113				
C19orf45	374877	broad.mit.edu	37	19	7569219	7569219	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:7569219G>A	ENST00000361664.2	+	4	845	c.704G>A	c.(703-705)gGa>gAa	p.G235E	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	235										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						GTGGAGCTGGGAGACTGCAAG	0.612																																						ENST00000361664.2																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						c.(703-705)gGa>gAa		chromosome 19 open reading frame 45							63.0	65.0	64.0					19																	7569219		2203	4300	6503	SO:0001583	missense	374877							g.chr19:7569219G>A	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.704G>A	19.37:g.7569219G>A	ENSP00000355241:p.Gly235Glu						p.G235E	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN			4	845	+			235					Q8N115	Missense_Mutation	SNP	ENST00000361664.2	37	c.704G>A	CCDS12179.2	.	.	.	.	.	.	.	.	.	.	g	18.51	3.639052	0.67130	.	.	ENSG00000198723	ENST00000361664	T	0.20598	2.06	4.29	4.29	0.51040	.	0.159879	0.40728	N	0.001030	T	0.42988	0.1227	M	0.66939	2.045	0.36081	D	0.842787	D	0.89917	1.0	D	0.91635	0.999	T	0.54357	-0.8306	10	0.72032	D	0.01	-8.8511	12.4993	0.55946	0.0:0.0:1.0:0.0	.	235	Q8NA69	CS045_HUMAN	E	235	ENSP00000355241:G235E	ENSP00000355241:G235E	G	+	2	0	C19orf45	7475219	1.000000	0.71417	0.687000	0.30102	0.100000	0.18952	2.522000	0.45572	2.401000	0.81631	0.536000	0.68110	GGA		0.612	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		16	66	0	0	0	1	0	16	66				
PLEKHM1P	440456	broad.mit.edu	37	17	62788576	62788576	+	RNA	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:62788576C>T	ENST00000582986.1	-	0	2033					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										TCCACATGCTCGTACAGAGAC	0.632																																						ENST00000582986.1																			0																																																			440456							g.chr17:62788576C>T			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62788576C>T								NR_024386.1						0	2033	-									RNA	SNP	ENST00000582986.1	37																																																																																						0.632	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		22	89	0	0	0	1	0	22	89				
PPP2R3A	5523	broad.mit.edu	37	3	135745824	135745824	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:135745824G>A	ENST00000264977.3	+	3	2763	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K	PPP2R3A_ENST00000490467.1_5'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E95K|PPP2R3A_ENST00000492624.2_5'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	716					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTACTTTCCTGAAGGACTCCC	0.428																																						ENST00000264977.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2146-2148)Gaa>Aaa		protein phosphatase 2, regulatory subunit B'', alpha							85.0	81.0	82.0					3																	135745824		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135745824G>A	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2146G>A	3.37:g.135745824G>A	ENSP00000264977:p.Glu716Lys					PPP2R3A_ENST00000490467.1_5'UTR|PPP2R3A_ENST00000492624.2_5'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E95K	p.E716K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN			3	2763	+			716					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.2146G>A	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	7.056	0.565413	0.13560	.	.	ENSG00000073711	ENST00000264977;ENST00000334546	T;T	0.15017	2.46;2.46	5.58	4.6	0.57074	.	0.214942	0.40222	N	0.001148	T	0.04543	0.0124	N	0.02247	-0.625	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38200	-0.9672	10	0.05436	T	0.98	.	4.1109	0.10058	0.2982:0.0:0.7018:0.0	.	95;716	Q06190-2;Q06190	.;P2R3A_HUMAN	K	716;95	ENSP00000264977:E716K;ENSP00000334748:E95K	ENSP00000264977:E716K	E	+	1	0	PPP2R3A	137228514	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.892000	0.56235	2.641000	0.89580	0.585000	0.79938	GAA		0.428	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		20	76	0	0	0	1	0	20	76				
OR2C3	81472	broad.mit.edu	37	1	247695156	247695156	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:247695156C>T	ENST00000366487.3	-	2	1019	c.658G>A	c.(658-660)Ggc>Agc	p.G220S	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCAATGTGGCCGTAAGAGACC	0.542																																						ENST00000366487.3																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43						c.(658-660)Ggc>Agc		olfactory receptor, family 2, subfamily C, member 3							90.0	88.0	88.0					1																	247695156		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695156C>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.658G>A	1.37:g.247695156C>T	ENSP00000355443:p.Gly220Ser					GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron	p.G220S	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1019	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	220					Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.658G>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	2.423	-0.332644	0.05314	.	.	ENSG00000196242	ENST00000366487	T	0.00051	8.81	3.89	-0.388	0.12459	GPCR, rhodopsin-like superfamily (1);	0.201948	0.23922	U	0.043232	T	0.00109	0.0003	L	0.28400	0.85	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.24548	-1.0157	10	0.41790	T	0.15	.	7.05	0.25067	0.0:0.4083:0.0:0.5917	.	220	Q8N628	OR2C3_HUMAN	S	220	ENSP00000355443:G220S	ENSP00000355443:G220S	G	-	1	0	OR2C3	245761779	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-2.979000	0.00663	0.036000	0.15547	-0.827000	0.03088	GGC		0.542	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		4	77	0	0	0	1	0	4	77				
MFF	56947	broad.mit.edu	37	2	228212087	228212087	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:228212087G>T	ENST00000353339.3	+	8	1180	c.739G>T	c.(739-741)Gat>Tat	p.D247Y	MFF_ENST00000349901.7_Intron|MFF_ENST00000337110.7_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000304593.9_Missense_Mutation_p.D196Y|MFF_ENST00000524634.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.D247Y|MFF_ENST00000409565.1_Intron|MFF_ENST00000354503.6_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	247					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						GGATGTGCTGGATGAAAATCG	0.448																																						ENST00000353339.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						c.(739-741)Gat>Tat		mitochondrial fission factor							179.0	161.0	167.0					2																	228212087		2203	4300	6503	SO:0001583	missense	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228212087G>T	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.739G>T	2.37:g.228212087G>T	ENSP00000302037:p.Asp247Tyr					MFF_ENST00000392059.1_Missense_Mutation_p.D247Y|MFF_ENST00000524634.1_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000304593.9_Missense_Mutation_p.D196Y|MFF_ENST00000349901.7_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000337110.7_Intron|MFF_ENST00000409616.1_Intron	p.D247Y	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN			8	1180	+			247					Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Missense_Mutation	SNP	ENST00000353339.3	37	c.739G>T	CCDS2465.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625409	0.87560	.	.	ENSG00000168958	ENST00000304593;ENST00000353339;ENST00000531278;ENST00000392059;ENST00000456345	T;T	0.56444	0.46;0.46	5.72	5.72	0.89469	.	0.053263	0.64402	D	0.000001	T	0.70701	0.3254	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.917;0.999	T	0.66760	-0.5842	10	0.38643	T	0.18	-16.81	19.8709	0.96851	0.0:0.0:1.0:0.0	.	196;247	Q9GZY8-2;Q9GZY8	.;MFF_HUMAN	Y	196;247;67;247;79	ENSP00000302037:D247Y;ENSP00000375912:D247Y	ENSP00000304898:D196Y	D	+	1	0	MFF	227920331	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.066000	0.93949	2.698000	0.92095	0.591000	0.81541	GAT		0.448	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		22	91	1	0	3.6726e-16	1	3.92389e-16	22	91				
TIRAP	114609	broad.mit.edu	37	11	126160817	126160817	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:126160817C>T	ENST00000392680.2	+	4	433	c.28C>T	c.(28-30)Cct>Tct	p.P10S	TIRAP_ENST00000392679.1_Missense_Mutation_p.P10S|TIRAP_ENST00000392678.3_Missense_Mutation_p.P10S|RP11-712L6.7_ENST00000533378.1_RNA	NM_001039661.1	NP_001034750.1	P58753	TIRAP_HUMAN	toll-interleukin 1 receptor (TIR) domain containing adaptor protein	10					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to bacterial lipopeptide (GO:0071221)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 1 production (GO:2000340)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-15 production (GO:0032738)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of innate immune response (GO:0045088)|regulation of interferon-beta production (GO:0032648)|response to lipopolysaccharide (GO:0032496)|TIRAP-dependent toll-like receptor 4 signaling pathway (GO:0035665)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|Toll-like receptor 2 binding (GO:0035663)|Toll-like receptor 4 binding (GO:0035662)			breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)		CCTCCCAGCTCCTGGCTCTCG	0.597																																						ENST00000392679.1																			0				breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(28-30)Cct>Tct		toll-interleukin 1 receptor (TIR) domain containing adaptor protein							74.0	51.0	59.0					11																	126160817		2201	4298	6499	SO:0001583	missense	114609				3'-UTR-mediated mRNA stabilization|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway	endocytic vesicle|intrinsic to membrane|ruffle membrane	phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|Toll-like receptor 2 binding|Toll-like receptor 4 binding|transmembrane receptor activity	g.chr11:126160817C>T	AF378129	CCDS8472.1, CCDS41731.1	11q24.2	2008-02-05	2002-01-14		ENSG00000150455	ENSG00000150455			17192	protein-coding gene	gene with protein product	"""MyD88 adapter-like"""	606252	"""Toll-interleukin 1 receptor (TIR) domain-containing adaptor protein"""			11526399, 11544529	Standard	XM_005271399		Approved	Mal, wyatt	uc001qdl.1	P58753	OTTHUMG00000140373	ENST00000392680.2:c.28C>T	11.37:g.126160817C>T	ENSP00000376447:p.Pro10Ser					TIRAP_ENST00000392678.3_Missense_Mutation_p.P10S|TIRAP_ENST00000392680.2_Missense_Mutation_p.P10S	p.P10S			P58753	TIRAP_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739)	3	311	+	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)	10					B3KW65|Q56UH9|Q56UI0|Q8N5E5	Missense_Mutation	SNP	ENST00000392680.2	37	c.28C>T	CCDS8472.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067323	0.55539	.	.	ENSG00000150455	ENST00000392679;ENST00000279992;ENST00000392678;ENST00000392680	T;T;T	0.07800	3.22;3.16;3.22	5.08	0.00942	0.14079	.	0.601501	0.15881	N	0.240075	T	0.05686	0.0149	L	0.29908	0.895	0.09310	N	1	B;B	0.19445	0.02;0.036	B;B	0.18263	0.008;0.021	T	0.38308	-0.9667	10	0.30078	T	0.28	-12.0709	7.3738	0.26817	0.0:0.5192:0.0:0.4808	.	10;10	P58753;Q56UH9	TIRAP_HUMAN;.	S	10	ENSP00000376446:P10S;ENSP00000376445:P10S;ENSP00000376447:P10S	ENSP00000279992:P10S	P	+	1	0	TIRAP	125666027	0.001000	0.12720	0.005000	0.12908	0.882000	0.50991	-0.276000	0.08514	-0.076000	0.12775	0.655000	0.94253	CCT		0.597	TIRAP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000277092.1	NM_148910		8	11	0	0	0	1	0	8	11				
KIF21A	55605	broad.mit.edu	37	12	39726491	39726491	+	Missense_Mutation	SNP	G	G	A	rs201804365		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:39726491G>A	ENST00000361418.5	-	20	2773	c.2758C>T	c.(2758-2760)Cgc>Tgc	p.R920C	KIF21A_ENST00000361961.3_Missense_Mutation_p.R907C|KIF21A_ENST00000544797.2_Missense_Mutation_p.R907C|KIF21A_ENST00000395670.3_Missense_Mutation_p.R920C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R884C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	920					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CACTTCATGCGAGCTGTCTTG	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		17493	0.0		0.001	False		,,,				2504	0.0					ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(2758-2760)Cgc>Tgc		kinesin family member 21A							81.0	79.0	80.0					12																	39726491		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39726491G>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2758C>T	12.37:g.39726491G>A	ENSP00000354878:p.Arg920Cys					KIF21A_ENST00000361961.3_Missense_Mutation_p.R907C|KIF21A_ENST00000544797.2_Missense_Mutation_p.R907C|KIF21A_ENST00000541463.2_Missense_Mutation_p.R884C|KIF21A_ENST00000361418.5_Missense_Mutation_p.R920C	p.R920C			Q7Z4S6	KI21A_HUMAN			20	3177	-		Lung NSC(34;0.179)|all_lung(34;0.213)	920					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.2758C>T	CCDS53776.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.32	3.805117	0.70682	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.73789	-0.72;-0.69;-0.78;-0.61;-0.72	5.7	5.7	0.88788	.	0.000000	0.50627	D	0.000116	D	0.85013	0.5600	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.997;0.997;0.997;0.999	D	0.86163	0.1595	10	0.87932	D	0	.	12.8482	0.57842	0.0:0.0:0.7288:0.2712	.	907;884;920;907;920	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.;.;KI21A_HUMAN;.;.	C	907;920;920;907;920;884	ENSP00000354851:R907C;ENSP00000379029:R920C;ENSP00000445606:R907C;ENSP00000354878:R920C;ENSP00000438075:R884C	ENSP00000344501:R920C	R	-	1	0	KIF21A	38012758	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	3.675000	0.54605	2.697000	0.92050	0.557000	0.71058	CGC		0.418	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		15	66	0	0	0	1	0	15	66				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)Cga>Tga		cyclin-dependent kinase inhibitor 2A							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron	p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	442	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58		R -> Q (in dbSNP:rs36204273).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		3	21	0	0	0	1	0	3	21				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			645752							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	83	0	0	0	1	0	4	83				
TNNT1	7138	broad.mit.edu	37	19	55649431	55649431	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:55649431C>G	ENST00000588981.1	-	10	603	c.399G>C	c.(397-399)atG>atC	p.M133I	TNNT1_ENST00000587465.2_Missense_Mutation_p.M63I|TNNT1_ENST00000356783.5_Missense_Mutation_p.M122I|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Missense_Mutation_p.M30I|TNNT1_ENST00000585321.2_Missense_Mutation_p.M63I|TNNT1_ENST00000587758.1_Missense_Mutation_p.M122I|TNNT1_ENST00000536926.1_Missense_Mutation_p.M122I|TNNT1_ENST00000291901.8_Missense_Mutation_p.M133I	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	133					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTTCCTTCCTCATCTTCTCCT	0.567																																						ENST00000588981.1																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(397-399)atG>atC		troponin T type 1 (skeletal, slow)							172.0	145.0	154.0					19																	55649431		2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55649431C>G		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.399G>C	19.37:g.55649431C>G	ENSP00000467176:p.Met133Ile					TNNT1_ENST00000587465.2_Missense_Mutation_p.M63I|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000356783.5_Missense_Mutation_p.M122I|TNNT1_ENST00000587758.1_Missense_Mutation_p.M122I|TNNT1_ENST00000585321.2_Missense_Mutation_p.M63I|TNNT1_ENST00000291901.8_Missense_Mutation_p.M133I|TNNT1_ENST00000536926.1_Missense_Mutation_p.M122I|TNNT1_ENST00000588426.1_Missense_Mutation_p.M30I	p.M133I	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	10	603	-			133					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.399G>C	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110849	0.37242	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693;ENST00000429737	D;D;D	0.91740	-2.9;-2.9;-2.9	4.37	4.37	0.52481	.	0.382752	0.28376	N	0.015580	D	0.89079	0.6613	L	0.44542	1.39	0.33193	D	0.551144	B;B;B;B;B	0.34200	0.095;0.331;0.331;0.441;0.331	B;B;B;B;B	0.35607	0.066;0.053;0.09;0.206;0.053	D	0.92417	0.5942	10	0.51188	T	0.08	-24.9561	14.7823	0.69776	0.0:1.0:0.0:0.0	.	133;122;133;133;122	Q56R94;P13805-2;P13805-3;P13805;F5H1H4	.;.;.;TNNT1_HUMAN;.	I	133;122;122;63;148	ENSP00000291901:M133I;ENSP00000349233:M122I;ENSP00000439640:M122I	ENSP00000291901:M133I	M	-	3	0	TNNT1	60341243	0.347000	0.24853	1.000000	0.80357	0.994000	0.84299	0.568000	0.23623	2.167000	0.68274	0.484000	0.47621	ATG		0.567	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283		11	64	0	0	0	1	0	11	64				
EXOSC7	23016	broad.mit.edu	37	3	45049058	45049058	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:45049058G>A	ENST00000265564.7	+	7	810	c.762G>A	c.(760-762)gaG>gaA	p.E254E	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	254					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GCATCTTCGAGATGATGGAGG	0.612																																						ENST00000265564.7																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(760-762)gaG>gaA		exosome component 7							84.0	68.0	74.0					3																	45049058		2203	4300	6503	SO:0001819	synonymous_variant	23016				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr3:45049058G>A	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.762G>A	3.37:g.45049058G>A						EXOSC7_ENST00000461361.1_3'UTR|CLEC3B_ENST00000490386.1_Intron	p.E254E	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)	7	810	+			254					Q96E72	Silent	SNP	ENST00000265564.7	37	c.762G>A	CCDS2725.1																																																																																				0.612	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004		8	25	0	0	0	1	0	8	25				
KRTAP10-1	386677	broad.mit.edu	37	21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(214-216)aCc>aTc		keratin associated protein 10-1							44.0	51.0	49.0					21																	45959819		2197	4290	6487	SO:0001583	missense	386677					keratin filament		g.chr21:45959819G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.215C>T	21.37:g.45959819G>A	ENSP00000383226:p.Thr72Ile					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.T72I	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	259	-			72			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.215C>T	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	2.677	-0.276175	0.05679	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.00856	5.61	2.87	0.849	0.18972	.	.	.	.	.	T	0.02571	0.0078	M	0.73962	2.25	0.09310	N	1	P	0.50369	0.934	P	0.50314	0.637	T	0.35748	-0.9776	9	0.66056	D	0.02	.	9.5849	0.39510	0.0:0.4182:0.5818:0.0	.	72	P60331	KR101_HUMAN	I	72	ENSP00000383226:T72I	ENSP00000383226:T72I	T	-	2	0	KRTAP10-1	44784247	0.000000	0.05858	0.165000	0.22776	0.527000	0.34593	-0.068000	0.11561	0.064000	0.16427	0.491000	0.48974	ACC		0.711	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			4	151	0	0	0	1	0	4	151				
ELAC1	55520	broad.mit.edu	37	18	48513077	48513077	+	Silent	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:48513077C>G	ENST00000269466.3	+	4	821	c.714C>G	c.(712-714)gtC>gtG	p.V238V	SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron|RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_3'UTR	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN	elaC ribonuclease Z 1	238					tRNA 3'-trailer cleavage (GO:0042779)	cytosol (GO:0005829)|nucleus (GO:0005634)	endoribonuclease activity, producing 5'-phosphomonoesters (GO:0016891)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(4)|prostate(1)	6		Colorectal(6;0.0269)|all_epithelial(6;0.0729)		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)		CCCAAGATGTCTTAAAAAAGC	0.433																																						ENST00000269466.3																			0				kidney(1)|large_intestine(4)|prostate(1)	6						c.(712-714)gtC>gtG		elaC ribonuclease Z 1							91.0	90.0	91.0					18																	48513077		2203	4300	6503	SO:0001819	synonymous_variant	55520				tRNA 3'-trailer cleavage	nucleus	endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr18:48513077C>G	AB029151	CCDS11949.1	18q21	2013-05-24	2013-05-24		ENSG00000141642	ENSG00000141642	3.1.26.11		14197	protein-coding gene	gene with protein product	"""tRNA Z (short form)"", ""RNaseZ(S)"""	608079	"""elaC (E. coli) homolog 1"", ""elaC homolog 1 (E. coli)"""			12711671, 21559454	Standard	NM_018696		Approved	D29	uc002lez.3	Q9H777	OTTHUMG00000132695	ENST00000269466.3:c.714C>G	18.37:g.48513077C>G						RP11-729L2.2_ENST00000590722.2_Intron|ELAC1_ENST00000588577.1_3'UTR|SMAD4_ENST00000452201.2_Intron|RP11-729L2.2_ENST00000588256.1_Intron	p.V238V	NM_018696.2	NP_061166.1	Q9H777	RNZ1_HUMAN		Colorectal(21;0.000943)|COAD - Colon adenocarcinoma(17;0.0398)|READ - Rectum adenocarcinoma(32;0.0894)|STAD - Stomach adenocarcinoma(97;0.18)	4	821	+		Colorectal(6;0.0269)|all_epithelial(6;0.0729)	238					Q9NS99	Silent	SNP	ENST00000269466.3	37	c.714C>G	CCDS11949.1																																																																																				0.433	ELAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255992.2			14	48	0	0	0	1	0	14	48				
DNAH8	1769	broad.mit.edu	37	6	38810443	38810443	+	Missense_Mutation	SNP	C	C	T	rs78877915	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:38810443C>T	ENST00000359357.3	+	33	4212	c.3958C>T	c.(3958-3960)Cgt>Tgt	p.R1320C	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1537C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1320C			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1320					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1320C(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGAAAGATGTCGTAAACTTCC	0.318													C|||	3	0.000599042	0.0	0.0	5008	,	,		19320	0.002		0.0	False		,,,				2504	0.001					ENST00000359357.3																			2	Substitution - Missense(2)	p.R1320C(2)	large_intestine(2)	NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3958-3960)Cgt>Tgt		dynein, axonemal, heavy chain 8		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	51.0	57.0	55.0		4609	4.6	1.0	6	dbSNP_133	55	0,8600		0,0,4300	yes	missense	DNAH8	NM_001206927.1	180	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1537/4708	38810443	1,13001	2201	4300	6501	SO:0001583	missense	1769							g.chr6:38810443C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3958C>T	6.37:g.38810443C>T	ENSP00000352312:p.Arg1320Cys					DNAH8_ENST00000449981.2_Missense_Mutation_p.R1537C|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1320C	p.R1320C							33	4212	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3958C>T		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	20.3	3.966167	0.74131	2.27E-4	0.0	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.62498	0.02;0.02;0.02	5.46	4.59	0.56863	Dynein heavy chain, domain-2 (1);	0.055231	0.64402	D	0.000001	D	0.83078	0.5176	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89433	0.3718	10	0.72032	D	0.01	.	16.6534	0.85222	0.0:0.87:0.13:0.0	.	1320	Q96JB1	DYH8_HUMAN	C	1525;1525;1320;1320	ENSP00000333363:R1525C;ENSP00000352312:R1320C;ENSP00000402294:R1320C	ENSP00000333363:R1525C	R	+	1	0	DNAH8	38918421	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.004000	0.57068	1.414000	0.47017	0.650000	0.86243	CGT		0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		13	48	0	0	0	1	0	13	48				
C8orf46	254778	broad.mit.edu	37	8	67408707	67408707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:67408707C>T	ENST00000305454.3	+	2	547	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	C8orf46_ENST00000480005.1_Nonsense_Mutation_p.Q36*|C8orf46_ENST00000522977.1_Nonsense_Mutation_p.Q36*|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000521495.1_Nonsense_Mutation_p.Q36*	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	36										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CAAAAGCTCTCAGCACCTCTT	0.418																																						ENST00000305454.3																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6						c.(106-108)Cag>Tag		chromosome 8 open reading frame 46							149.0	135.0	140.0					8																	67408707		2203	4300	6503	SO:0001587	stop_gained	254778							g.chr8:67408707C>T	BC028400	CCDS6191.2	8q13.1	2005-08-09			ENSG00000169085	ENSG00000169085			28498	protein-coding gene	gene with protein product						12477932	Standard	NM_152765		Approved	MGC33510	uc003xwg.3	Q8TAG6	OTTHUMG00000156998	ENST00000305454.3:c.106C>T	8.37:g.67408707C>T	ENSP00000302260:p.Gln36*					C8orf46_ENST00000522977.1_Nonsense_Mutation_p.Q36*|C8orf46_ENST00000521495.1_Nonsense_Mutation_p.Q36*|C8orf46_ENST00000482608.2_3'UTR|C8orf46_ENST00000480005.1_Nonsense_Mutation_p.Q36*	p.Q36*	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)		2	547	+			36					B2RDC3|B4DFU4|C9J814|C9JCS3	Nonsense_Mutation	SNP	ENST00000305454.3	37	c.106C>T	CCDS6191.2	.	.	.	.	.	.	.	.	.	.	C	38	7.210199	0.98136	.	.	ENSG00000169085	ENST00000305454;ENST00000521495;ENST00000522977;ENST00000480005	.	.	.	6.06	6.06	0.98353	.	0.174548	0.41396	D	0.000899	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-4.8668	18.8014	0.92018	0.0:1.0:0.0:0.0	.	.	.	.	X	36	.	ENSP00000302260:Q36X	Q	+	1	0	C8orf46	67571261	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.994000	0.63901	2.882000	0.98803	0.655000	0.94253	CAG		0.418	C8orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347010.1	NM_152765		13	75	0	0	0	1	0	13	75				
ARMC5	79798	broad.mit.edu	37	16	31470893	31470893	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:31470893C>T	ENST00000563544.1	+	2	594	c.48C>T	c.(46-48)ctC>ctT	p.L16L	ARMC5_ENST00000408912.3_Silent_p.L111L|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_Silent_p.L48L|ARMC5_ENST00000457010.2_Silent_p.L16L|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000268314.4_Silent_p.L16L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	16										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGTTCTGCCTCGCGCAGCTCG	0.716																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(46-48)ctC>ctT		armadillo repeat containing 5							11.0	16.0	15.0					16																	31470893		1967	4141	6108	SO:0001819	synonymous_variant	79798						binding	g.chr16:31470893C>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.48C>T	16.37:g.31470893C>T						RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000563544.1_Silent_p.L16L|ARMC5_ENST00000538189.1_Silent_p.L48L|ARMC5_ENST00000408912.3_Silent_p.L111L|ARMC5_ENST00000268314.4_Silent_p.L16L	p.L16L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN			1	749	+			16					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.48C>T	CCDS45472.1																																																																																				0.716	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		5	16	0	0	0	1	0	5	16				
FBXL4	26235	broad.mit.edu	37	6	99374800	99374800	+	Missense_Mutation	SNP	C	C	T	rs147696366	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:99374800C>T	ENST00000369244.2	-	4	493	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	FBXL4_ENST00000229971.1_Missense_Mutation_p.R22Q	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	22					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TGTCCTGGCTCGGCGCCGAAG	0.453													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18267	0.001		0.0	False		,,,				2504	0.0					ENST00000369244.2																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18						c.(64-66)cGa>cAa		F-box and leucine-rich repeat protein 4		C	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	178.0	164.0	169.0		65	4.7	1.0	6	dbSNP_134	169	0,8598		0,0,4299	no	missense	FBXL4	NM_012160.3	43	0,4,6498	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	22/622	99374800	4,13000	2203	4299	6502	SO:0001583	missense	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99374800C>T	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.65G>A	6.37:g.99374800C>T	ENSP00000358247:p.Arg22Gln					FBXL4_ENST00000229971.1_Missense_Mutation_p.R22Q	p.R22Q			Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	4	493	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	22					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	c.65G>A	CCDS5041.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.92	3.254525	0.59212	9.08E-4	0.0	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.17213	2.29;2.29	5.52	4.65	0.58169	.	0.057535	0.64402	N	0.000001	T	0.09774	0.0240	M	0.63428	1.95	0.80722	D	1	B	0.13594	0.008	B	0.09377	0.004	T	0.03278	-1.1053	10	0.56958	D	0.05	.	11.5044	0.50456	0.0:0.8559:0.0:0.1441	.	22	Q9UKA2	FBXL4_HUMAN	Q	22	ENSP00000358247:R22Q;ENSP00000229971:R22Q	ENSP00000229971:R22Q	R	-	2	0	FBXL4	99481521	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.646000	0.61411	1.469000	0.48083	0.650000	0.86243	CGA		0.453	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			29	119	0	0	0	1	0	29	119				
ZNF91	7644	broad.mit.edu	37	19	23542504	23542504	+	Missense_Mutation	SNP	G	G	C	rs376851241	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:23542504G>C	ENST00000300619.7	-	4	3482	c.3277C>G	c.(3277-3279)Cta>Gta	p.L1093V	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.L1061V|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1093					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTCTAGTTAGGGTTGAAGAT	0.393																																						ENST00000300619.7																			0											c.(3277-3279)Cta>Gta		zinc finger protein 91							74.0	80.0	78.0					19																	23542504		2153	4272	6425	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542504G>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3277C>G	19.37:g.23542504G>C	ENSP00000300619:p.Leu1093Val					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.L1061V	p.L1093V	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	3482	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1093					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3277C>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309942	0.23821	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.52983	0.64;0.64	1.49	1.49	0.22878	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61590	0.2359	M	0.73430	2.235	0.09310	N	1	D;D	0.71674	0.998;0.99	D;D	0.69142	0.962;0.927	T	0.47086	-0.9144	9	0.87932	D	0	.	5.1938	0.15225	0.1977:0.0:0.8023:0.0	.	1061;1093	Q05481-2;Q05481	.;ZNF91_HUMAN	V	1093;1061	ENSP00000300619:L1093V;ENSP00000380272:L1061V	ENSP00000300619:L1093V	L	-	1	2	ZNF91	23334344	0.699000	0.27786	0.011000	0.14972	0.579000	0.36224	0.934000	0.28910	0.793000	0.33875	0.196000	0.17591	CTA		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		9	50	0	0	0	1	0	9	50				
DOK5	55816	broad.mit.edu	37	20	53227001	53227001	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:53227001C>G	ENST00000262593.5	+	6	1024	c.674C>G	c.(673-675)tCt>tGt	p.S225C	DOK5_ENST00000395939.1_Missense_Mutation_p.S117C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	225	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.			SAALAIAEQH -> LLQMKMSERA (in Ref. 1; AAF66443). {ECO:0000305}.	MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			AAAGTCCACTCTGCTGCCTTG	0.498																																						ENST00000262593.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19						c.(673-675)tCt>tGt		docking protein 5							80.0	71.0	74.0					20																	53227001		2203	4300	6503	SO:0001583	missense	55816						insulin receptor binding	g.chr20:53227001C>G	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.674C>G	20.37:g.53227001C>G	ENSP00000262593:p.Ser225Cys					DOK5_ENST00000395939.1_Missense_Mutation_p.S117C	p.S225C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		6	1024	+			225	SAALAIAEQH -> LLQMKMSERA (in Ref. 1; AAF66443).		IRS-type PTB.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Missense_Mutation	SNP	ENST00000262593.5	37	c.674C>G	CCDS13446.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983615	0.74474	.	.	ENSG00000101134	ENST00000262593;ENST00000395939	T;T	0.75704	-0.96;-0.96	5.78	5.78	0.91487	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.058068	0.64402	D	0.000001	D	0.84037	0.5384	L	0.61387	1.9	0.58432	D	0.999999	B;D	0.76494	0.389;0.999	B;D	0.63597	0.092;0.916	D	0.83452	0.0049	10	0.49607	T	0.09	-1.0841	19.0159	0.92894	0.0:1.0:0.0:0.0	.	117;225	Q9P104-2;Q9P104	.;DOK5_HUMAN	C	225;117	ENSP00000262593:S225C;ENSP00000379270:S117C	ENSP00000262593:S225C	S	+	2	0	DOK5	52660408	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.690000	0.84178	2.732000	0.93576	0.655000	0.94253	TCT		0.498	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			11	53	0	0	0	1	0	11	53				
ALDH3A1	218	broad.mit.edu	37	17	19641684	19641684	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:19641684C>T	ENST00000457500.2	-	9	1628	c.1299G>A	c.(1297-1299)ctG>ctA	p.L433L	ALDH3A1_ENST00000395555.3_Silent_p.L369L|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000444455.1_Silent_p.L433L|ALDH3A1_ENST00000494157.2_Silent_p.L360L|ALDH3A1_ENST00000225740.6_Silent_p.L433L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	433					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CATCATTCATCAGAGGCCTCA	0.627																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1297-1299)ctG>ctA		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						70.0	74.0	73.0					17																	19641684		2203	4300	6503	SO:0001819	synonymous_variant	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19641684C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1299G>A	17.37:g.19641684C>T						ALDH3A1_ENST00000395555.3_Silent_p.L369L|ALDH3A1_ENST00000444455.1_Silent_p.L433L|ALDH3A1_ENST00000225740.6_Silent_p.L433L|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000494157.2_Silent_p.L360L	p.L433L	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	9	1628	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		433					A8K828|Q9BT37	Silent	SNP	ENST00000457500.2	37	c.1299G>A	CCDS11212.1																																																																																				0.627	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		26	95	0	0	0	1	0	26	95				
CYP11B2	1585	broad.mit.edu	37	8	143994787	143994787	+	Silent	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:143994787C>G	ENST00000323110.2	-	6	1037	c.1035G>C	c.(1033-1035)ctG>ctC	p.L345L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	345					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CTGCGGCGGCCAGGCTCTCCT	0.637									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(1033-1035)ctG>ctC		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)																																			SO:0001819	synonymous_variant	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994787C>G	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1035G>C	8.37:g.143994787C>G							p.L345L	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			6	1037	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		345					B0ZBE4|Q16726	Silent	SNP	ENST00000323110.2	37	c.1035G>C	CCDS6393.1																																																																																				0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			15	103	0	0	0	1	0	15	103				
RGS5	8490	broad.mit.edu	37	1	163131767	163131767	+	Splice_Site	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:163131767C>G	ENST00000313961.5	-	3	433		c.e3-1		RGS5_ENST00000534288.1_Splice_Site|RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000530507.1_Splice_Site|RGS5_ENST00000367903.3_Splice_Site|RGS5_ENST00000527988.1_Intron	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5						positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CAGCGAGGTTCTACATCAATA	0.423																																						ENST00000313961.5																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.e3-1		regulator of G-protein signaling 5							86.0	86.0	86.0					1																	163131767		2203	4300	6503	SO:0001630	splice_region_variant	8490				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:163131767C>G	AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.156-1G>C	1.37:g.163131767C>G						RP11-267N12.1_ENST00000415437.1_RNA|RGS5_ENST00000534288.1_Splice_Site|RGS5_ENST00000527988.1_Intron|RGS5_ENST00000530507.1_Splice_Site|RGS5_ENST00000367903.3_Splice_Site		NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.187)		3	433	-								E9PMP5|Q53XA9|Q599J0	Splice_Site	SNP	ENST00000313961.5	37		CCDS1244.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895600	0.72639	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507;ENST00000531476	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6285	0.84993	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RGS5	161398391	1.000000	0.71417	0.688000	0.30117	0.454000	0.32378	6.764000	0.74960	2.854000	0.98071	0.655000	0.94253	.		0.423	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083264.1	NM_003617	Intron	7	39	0	0	0	1	0	7	39				
LRP1B	53353	broad.mit.edu	37	2	141709461	141709461	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:141709461C>G	ENST00000389484.3	-	19	3907	c.2936G>C	c.(2935-2937)aGa>aCa	p.R979T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	979	LDL-receptor class A 6. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCTAATGCATCTTCCACTTTT	0.448										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2935-2937)aGa>aCa		low density lipoprotein receptor-related protein 1B							189.0	155.0	167.0					2																	141709461		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141709461C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2936G>C	2.37:g.141709461C>G	ENSP00000374135:p.Arg979Thr	TSP Lung(27;0.18)					p.R979T	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	19	3907	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	979			LDL-receptor class A 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2936G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317240	0.95682	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.95821	-3.82;-3.82	6.16	6.16	0.99307	.	0.000000	0.64402	U	0.000001	D	0.97414	0.9154	M	0.74258	2.255	0.80722	D	1	P;D	0.53885	0.775;0.963	P;P	0.62382	0.665;0.901	D	0.96129	0.9091	10	0.39692	T	0.17	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	162;979	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	T	979;917;124	ENSP00000374135:R979T;ENSP00000413239:R124T	ENSP00000374135:R979T	R	-	2	0	LRP1B	141425931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.216000	0.77974	2.937000	0.99478	0.650000	0.86243	AGA		0.448	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	50	0	0	0	1	0	8	50				
PTPRZ1	5803	broad.mit.edu	37	7	121623864	121623864	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:121623864C>G	ENST00000393386.2	+	7	1176	c.765C>G	c.(763-765)atC>atG	p.I255M	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I255M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	255	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAGTTAGCATCTCTGAAAGCC	0.318																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(763-765)atC>atG		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							116.0	111.0	113.0					7																	121623864		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121623864C>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.765C>G	7.37:g.121623864C>G	ENSP00000377047:p.Ile255Met					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I255M	p.I255M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			7	1176	+			255			Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.765C>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.164287	0.57476	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.70516	-0.49;-0.49	5.62	3.45	0.39498	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	M	0.76328	2.33	0.28059	N	0.933034	D;D	0.76494	0.998;0.999	D;D	0.91635	0.994;0.999	T	0.70842	-0.4762	10	0.87932	D	0	.	4.5342	0.12020	0.0:0.575:0.0:0.425	.	255;255	C9JFM0;P23471	.;PTPRZ_HUMAN	M	255	ENSP00000377047:I255M;ENSP00000410000:I255M	ENSP00000377047:I255M	I	+	3	3	PTPRZ1	121411100	0.990000	0.36364	1.000000	0.80357	0.874000	0.50279	0.217000	0.17603	1.523000	0.49018	0.543000	0.68304	ATC		0.318	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		21	79	0	0	0	1	0	21	79				
SPIRE1	56907	broad.mit.edu	37	18	12452279	12452279	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:12452279G>A	ENST00000409402.4	-	16	2254	c.1987C>T	c.(1987-1989)Cat>Tat	p.H663Y	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.H529Y|SPIRE1_ENST00000309836.5_Missense_Mutation_p.H452Y|SPIRE1_ENST00000410092.3_Missense_Mutation_p.H649Y	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						AGTGGCCGATGATGGGCAGTG	0.502																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(1987-1989)Cat>Tat		spire-type actin nucleation factor 1							58.0	54.0	55.0					18																	12452279		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12452279G>A	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1987C>T	18.37:g.12452279G>A	ENSP00000387266:p.His663Tyr					SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.H649Y|SPIRE1_ENST00000309836.5_Missense_Mutation_p.H452Y|SPIRE1_ENST00000453447.2_Missense_Mutation_p.H529Y	p.H663Y	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			16	2254	-			663						Missense_Mutation	SNP	ENST00000409402.4	37	c.1987C>T	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	G	9.856	1.195008	0.22037	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836	T;T;T;T	0.48522	0.82;1.4;1.39;0.81	5.55	5.55	0.83447	.	0.370691	0.32314	N	0.006279	T	0.46964	0.1420	L	0.55990	1.75	0.80722	D	1	P;B;P	0.47604	0.868;0.227;0.898	B;B;B	0.41332	0.341;0.135;0.354	T	0.39035	-0.9633	10	0.25106	T	0.35	-22.5286	19.5119	0.95144	0.0:0.0:1.0:0.0	.	649;452;663	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	Y	529;663;649;452	ENSP00000407050:H529Y;ENSP00000387266:H663Y;ENSP00000387226:H649Y;ENSP00000309661:H452Y	ENSP00000309661:H452Y	H	-	1	0	SPIRE1	12442279	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.817000	0.62650	2.609000	0.88269	0.655000	0.94253	CAT		0.502	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		7	40	0	0	0	1	0	7	40				
SYNJ2	8871	broad.mit.edu	37	6	158449979	158449979	+	Missense_Mutation	SNP	G	G	A	rs147584404		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:158449979G>A	ENST00000355585.4	+	3	481	c.406G>A	c.(406-408)Gat>Aat	p.D136N	SYNJ2_ENST00000449859.2_Missense_Mutation_p.D85N|SYNJ2_ENST00000367121.3_Missense_Mutation_p.D136N|SYNJ2_ENST00000367122.2_Missense_Mutation_p.D136N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	136	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGGCCAAACGATGGGTCTCG	0.552																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(406-408)Gat>Aat		synaptojanin 2		G	,ASN/ASP	0,4406		0,0,2203	66.0	67.0	67.0		,406	4.6	0.1	6	dbSNP_134	67	3,8597	3.0+/-9.4	0,3,4297	no	utr-5,missense	SYNJ2	NM_001178088.1,NM_003898.3	,23	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,benign	,136/1497	158449979	3,13003	2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158449979G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.406G>A	6.37:g.158449979G>A	ENSP00000347792:p.Asp136Asn					SYNJ2_ENST00000367121.3_Missense_Mutation_p.D136N|SYNJ2_ENST00000449859.2_Missense_Mutation_p.D85N|SYNJ2_ENST00000367122.2_Missense_Mutation_p.D136N	p.D136N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	3	481	+			136			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.406G>A	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577307	0.28092	0.0	3.49E-4	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449320;ENST00000449859	T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21	4.62	4.62	0.57501	Synaptojanin, N-terminal (2);	0.538685	0.16631	N	0.206053	T	0.27278	0.0669	N	0.17474	0.49	0.22591	N	0.998958	P;B;P;P	0.50710	0.938;0.022;0.894;0.871	B;B;B;B	0.44163	0.443;0.028;0.443;0.315	T	0.06807	-1.0806	10	0.51188	T	0.08	.	12.158	0.54087	0.0819:0.0:0.9181:0.0	.	85;136;136;136	B4DJU8;E7ER60;O15056;O15056-3	.;.;SYNJ2_HUMAN;.	N	136;136;136;85;85	ENSP00000356089:D136N;ENSP00000356088:D136N;ENSP00000347792:D136N;ENSP00000411202:D85N;ENSP00000388371:D85N	ENSP00000347792:D136N	D	+	1	0	SYNJ2	158369967	0.997000	0.39634	0.077000	0.20336	0.061000	0.15899	3.780000	0.55386	0.784000	0.33661	0.533000	0.62120	GAT		0.552	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			16	54	0	0	0	1	0	16	54				
NEK9	91754	broad.mit.edu	37	14	75576576	75576576	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:75576576T>C	ENST00000238616.5	-	10	1152	c.994A>G	c.(994-996)Agc>Ggc	p.S332G		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	332					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		GTCACAGTGCTTGACCTGCCA	0.428																																						ENST00000238616.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(994-996)Agc>Ggc		NIMA-related kinase 9							46.0	45.0	45.0					14																	75576576		2203	4300	6503	SO:0001583	missense	91754				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr14:75576576T>C	AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.994A>G	14.37:g.75576576T>C	ENSP00000238616:p.Ser332Gly						p.S332G	NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00718)	10	1152	-			332					Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	ENST00000238616.5	37	c.994A>G	CCDS9839.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.426661	0.43020	.	.	ENSG00000119638	ENST00000238616;ENST00000540227	T	0.25085	1.82	5.97	5.97	0.96955	Protein kinase-like domain (1);	0.128624	0.64402	D	0.000001	T	0.13457	0.0326	N	0.08118	0	0.40332	D	0.978932	B	0.06786	0.001	B	0.06405	0.002	T	0.15665	-1.0429	10	0.29301	T	0.29	.	10.745	0.46175	0.0:0.0704:0.0:0.9296	.	332	Q8TD19	NEK9_HUMAN	G	332;314	ENSP00000238616:S332G	ENSP00000238616:S332G	S	-	1	0	NEK9	74646329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.971000	0.70440	2.288000	0.76882	0.533000	0.62120	AGC		0.428	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415021.1	NM_033116		3	50	0	0	0	1	0	3	50				
TBC1D7	51256	broad.mit.edu	37	6	13327061	13327061	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:13327061C>G	ENST00000379300.3	-	2	313	c.70G>C	c.(70-72)Gaa>Caa	p.E24Q	TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379307.2_Missense_Mutation_p.E24Q|TBC1D7_ENST00000356436.4_Missense_Mutation_p.E24Q|TBC1D7_ENST00000607658.1_Missense_Mutation_p.E24Q|TBC1D7_ENST00000343141.4_Missense_Mutation_p.E24Q	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	24					activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GATTTCTTTTCTTCAACTCCA	0.368																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(70-72)Gaa>Caa		TBC1 domain family, member 7							85.0	87.0	86.0					6																	13327061		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13327061C>G	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.70G>C	6.37:g.13327061C>G	ENSP00000368602:p.Glu24Gln					TBC1D7_ENST00000379300.3_Missense_Mutation_p.E24Q|TBC1D7_ENST00000379307.2_Missense_Mutation_p.E24Q|TBC1D7_ENST00000356436.4_Missense_Mutation_p.E24Q|TBC1D7_ENST00000343141.4_Missense_Mutation_p.E24Q|TBC1D7_ENST00000607532.1_5'UTR	p.E24Q			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		2	220	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	24					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.70G>C	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034604	0.93575	.	.	ENSG00000145979	ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.50001	2.25;2.25;2.25;0.91;1.34;1.0;1.0;2.25;1.06;1.14;2.25;2.25;0.76	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65933	0.2739	M	0.78456	2.415	0.80722	D	1	D;D;D;D;D	0.89917	0.965;1.0;0.999;0.965;0.976	P;D;D;P;P	0.91635	0.701;0.999;0.994;0.838;0.603	T	0.66110	-0.6005	10	0.51188	T	0.08	-24.6499	18.757	0.91836	0.0:1.0:0.0:0.0	.	24;24;24;24;24	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	Q	24	ENSP00000401438:E24Q;ENSP00000348813:E24Q;ENSP00000368602:E24Q;ENSP00000368609:E24Q;ENSP00000343100:E24Q;ENSP00000414292:E24Q;ENSP00000404680:E24Q;ENSP00000394425:E24Q;ENSP00000417005:E24Q;ENSP00000412102:E24Q;ENSP00000414101:E24Q;ENSP00000401339:E24Q;ENSP00000368593:E24Q	ENSP00000343100:E24Q	E	-	1	0	TBC1D7	13435040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.301000	0.78850	2.730000	0.93505	0.650000	0.86243	GAA		0.368	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		15	55	0	0	0	1	0	15	55				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																729171							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	53	0	0	0	1	0	3	53				
PPP1R13L	10848	broad.mit.edu	37	19	45889216	45889216	+	Splice_Site	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:45889216C>G	ENST00000418234.2	-	10	2026		c.e10-1		PPP1R13L_ENST00000360957.5_Splice_Site	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like						apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTCGTTCATCTGAGTGCACC	0.657																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.e10-1		protein phosphatase 1, regulatory subunit 13 like							47.0	49.0	48.0					19																	45889216		2202	4299	6501	SO:0001630	splice_region_variant	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45889216C>G	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1948-1G>C	19.37:g.45889216C>G						PPP1R13L_ENST00000360957.5_Splice_Site		NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	10	2026	-		all_neural(266;0.224)|Ovarian(192;0.231)						Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Splice_Site	SNP	ENST00000418234.2	37		CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795645	0.50208	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5647	0.76281	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPP1R13L	50581056	1.000000	0.71417	0.998000	0.56505	0.324000	0.28378	7.150000	0.77403	2.534000	0.85438	0.561000	0.74099	.		0.657	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663	Intron	3	8	0	0	0	1	0	3	8				
TLR7	51284	broad.mit.edu	37	X	12904896	12904896	+	Silent	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:12904896G>C	ENST00000380659.3	+	3	1408	c.1269G>C	c.(1267-1269)ctG>ctC	p.L423L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	423					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TTAAAAGACTGAAAGTCATAG	0.333																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(1267-1269)ctG>ctC		toll-like receptor 7	Imiquimod(DB00724)						54.0	60.0	58.0					X																	12904896		2196	4295	6491	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12904896G>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1269G>C	X.37:g.12904896G>C							p.L423L	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	1408	+			423					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.1269G>C	CCDS14151.1																																																																																				0.333	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		22	82	0	0	0	1	0	22	82				
PTPRE	5791	broad.mit.edu	37	10	129870426	129870426	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:129870426C>T	ENST00000254667.3	+	16	1691	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	PTPRE_ENST00000419012.2_Missense_Mutation_p.S471F|PTPRE_ENST00000306042.5_Missense_Mutation_p.S413F	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	471	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GTGATCCTTTCCATGAAAAGG	0.418																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1411-1413)tCc>tTc		protein tyrosine phosphatase, receptor type, E							166.0	131.0	143.0					10																	129870426		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129870426C>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1412C>T	10.37:g.129870426C>T	ENSP00000254667:p.Ser471Phe					PTPRE_ENST00000419012.2_Missense_Mutation_p.S471F|PTPRE_ENST00000306042.5_Missense_Mutation_p.S413F	p.S471F	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			16	1691	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	471			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1412C>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932306	0.73442	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.12672	2.66;2.66;2.66	4.66	4.66	0.58398	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.64402	D	0.000001	T	0.37705	0.1013	M	0.81682	2.555	0.80722	D	1	D;D;P;D	0.63880	0.993;0.983;0.942;0.983	P;P;P;P	0.60886	0.858;0.88;0.785;0.88	T	0.32561	-0.9902	10	0.56958	D	0.05	.	17.7555	0.88447	0.0:1.0:0.0:0.0	.	449;471;413;471	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	F	471;449;471;413	ENSP00000254667:S471F;ENSP00000402337:S471F;ENSP00000303350:S413F	ENSP00000254667:S471F	S	+	2	0	PTPRE	129760416	1.000000	0.71417	0.992000	0.48379	0.645000	0.38454	7.215000	0.77966	2.400000	0.81607	0.655000	0.94253	TCC		0.418	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			7	27	0	0	0	1	0	7	27				
AGGF1	55109	broad.mit.edu	37	5	76342415	76342415	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:76342415G>C	ENST00000312916.7	+	6	1496	c.1114G>C	c.(1114-1116)Gaa>Caa	p.E372Q		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	372					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AGAGGAAGGTGAAATTACAGA	0.373																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(1114-1116)Gaa>Caa		angiogenic factor with G patch and FHA domains 1							135.0	140.0	138.0					5																	76342415		2203	4300	6503	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76342415G>C	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1114G>C	5.37:g.76342415G>C	ENSP00000316109:p.Glu372Gln						p.E372Q	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	6	1496	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	372					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.1114G>C	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646581	0.87958	.	.	ENSG00000164252	ENST00000312916	T	0.46451	0.87	5.43	5.43	0.79202	.	0.049306	0.85682	D	0.000000	T	0.60457	0.2270	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60026	-0.7343	10	0.54805	T	0.06	-15.0941	19.2314	0.93842	0.0:0.0:1.0:0.0	.	372	Q8N302	AGGF1_HUMAN	Q	372	ENSP00000316109:E372Q	ENSP00000316109:E372Q	E	+	1	0	AGGF1	76378171	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.919000	0.87513	2.551000	0.86045	0.591000	0.81541	GAA		0.373	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		18	132	0	0	0	1	0	18	132				
ASXL2	55252	broad.mit.edu	37	2	26022288	26022288	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:26022288G>A	ENST00000435504.4	-	5	662	c.369C>T	c.(367-369)aaC>aaT	p.N123N	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Silent_p.N95N			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	123	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCCTCCTTGTTGCTGCCAC	0.458																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(367-369)aaC>aaT		additional sex combs like 2 (Drosophila)							224.0	220.0	221.0					2																	26022288		2055	4215	6270	SO:0001819	synonymous_variant	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022288G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.369C>T	2.37:g.26022288G>A						ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_Silent_p.N95N	p.N123N			Q76L83	ASXL2_HUMAN			5	662	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		123			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Silent	SNP	ENST00000435504.4	37	c.369C>T																																																																																					0.458	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		4	164	0	0	0	1	0	4	164				
GPR111	222611	broad.mit.edu	37	6	47650381	47650381	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:47650381G>C	ENST00000296862.1	+	6	2086	c.2086G>C	c.(2086-2088)Gac>Cac	p.D696H	GPR111_ENST00000507065.1_Missense_Mutation_p.D628H|GPR111_ENST00000398742.2_Intron			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	696					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						AGATGCTTCTGACCAAGTGCA	0.433																																						ENST00000507065.1																			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.(1882-1884)Gac>Cac		G protein-coupled receptor 111							45.0	43.0	44.0					6																	47650381		2017	4188	6205	SO:0001583	missense	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47650381G>C	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.2086G>C	6.37:g.47650381G>C	ENSP00000296862:p.Asp696His					GPR111_ENST00000296862.1_Missense_Mutation_p.D696H|GPR111_ENST00000398742.2_Intron	p.D628H			Q8IZF7	GP111_HUMAN			6	2160	+			696					Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	ENST00000296862.1	37	c.1882G>C		.	.	.	.	.	.	.	.	.	.	G	11.12	1.543810	0.27563	.	.	ENSG00000164393	ENST00000507065;ENST00000296862	T;T	0.23348	1.99;1.91	5.37	0.17	0.15021	.	6.168670	0.00424	N	0.000072	T	0.07052	0.0179	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.30794	-0.9966	9	0.72032	D	0.01	.	4.9351	0.13937	0.3602:0.1437:0.496:0.0	.	696	Q8IZF7	GP111_HUMAN	H	628;696	ENSP00000422934:D628H;ENSP00000296862:D696H	ENSP00000296862:D696H	D	+	1	0	GPR111	47758340	0.000000	0.05858	0.000000	0.03702	0.131000	0.20780	-0.402000	0.07223	-0.288000	0.09051	-0.165000	0.13383	GAC		0.433	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		10	36	0	0	0	1	0	10	36				
CORO2B	10391	broad.mit.edu	37	15	69003203	69003203	+	Missense_Mutation	SNP	G	G	A	rs543637910	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:69003203G>A	ENST00000566799.1	+	4	495	c.466G>A	c.(466-468)Gct>Act	p.A156T	CORO2B_ENST00000543950.1_Missense_Mutation_p.A151T|CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	156					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGTTCAGCGCTGGCTACGA	0.622																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(451-453)Gct>Act		coronin, actin binding protein, 2B							38.0	37.0	38.0					15																	69003203		2200	4297	6497	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69003203G>A	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.466G>A	15.37:g.69003203G>A	ENSP00000454783:p.Ala156Thr					CORO2B_ENST00000566799.1_Missense_Mutation_p.A156T|CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T	p.A151T	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			4	805	+			156					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.451G>A	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375038	0.82682	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.64618	-0.11;-0.11	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000019	T	0.63827	0.2544	M	0.75777	2.31	0.80722	D	1	P	0.42735	0.788	B	0.36766	0.232	T	0.70092	-0.4967	10	0.54805	T	0.06	-13.9823	18.5079	0.90904	0.0:0.0:1.0:0.0	.	156	Q9UQ03	COR2B_HUMAN	T	156;151;151	ENSP00000446250:A151T;ENSP00000443819:A151T	ENSP00000261861:A156T	A	+	1	0	CORO2B	66790257	1.000000	0.71417	0.692000	0.30179	0.870000	0.49936	9.366000	0.97143	2.608000	0.88229	0.561000	0.74099	GCT		0.622	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		3	10	0	0	0	1	0	3	10				
WNT8B	7479	broad.mit.edu	37	10	102242120	102242120	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:102242120C>T	ENST00000343737.5	+	6	731	c.603C>T	c.(601-603)ttC>ttT	p.F201F		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	201					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGCCCGAGTTCCGCGAGGTGG	0.682											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343737.5																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(601-603)ttC>ttT		wingless-type MMTV integration site family, member 8B							18.0	21.0	20.0					10																	102242120		2194	4287	6481	SO:0001819	synonymous_variant	7479				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr10:102242120C>T	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.603C>T	10.37:g.102242120C>T			OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1365		p.F201F	NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)	6	731	+		Colorectal(252;0.117)	201					O00771|Q5VX55|Q8WYK9	Silent	SNP	ENST00000343737.5	37	c.603C>T	CCDS7494.1																																																																																				0.682	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049867.1	NM_003393		8	26	0	0	0	1	0	8	26				
SACS	26278	broad.mit.edu	37	13	23908832	23908832	+	Silent	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr13:23908832G>C	ENST00000382292.3	-	9	9456	c.9183C>G	c.(9181-9183)ctC>ctG	p.L3061L	SACS_ENST00000402364.1_Silent_p.L2311L|SACS_ENST00000382298.3_Silent_p.L3061L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3061					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTTCTAAAAGGAGATGTTTCA	0.343																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(9181-9183)ctC>ctG		spastic ataxia of Charlevoix-Saguenay (sacsin)							106.0	102.0	103.0					13																	23908832		2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23908832G>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9183C>G	13.37:g.23908832G>C						SACS_ENST00000382292.3_Silent_p.L3061L|SACS_ENST00000402364.1_Silent_p.L2311L	p.L3061L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9771	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3061					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.9183C>G	CCDS9300.2																																																																																				0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		9	45	0	0	0	1	0	9	45				
MAP1LC3A	84557	broad.mit.edu	37	20	33147238	33147238	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:33147238G>A	ENST00000360668.3	+	3	945	c.184G>A	c.(184-186)Gag>Aag	p.E62K	MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.E62K|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.E66K|MAP1LC3A_ENST00000476428.1_3'UTR			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	62					autophagic vacuole assembly (GO:0000045)|mitochondrion degradation (GO:0000422)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|late endosome (GO:0005770)|microtubule (GO:0005874)|organelle membrane (GO:0031090)	phosphatidylethanolamine binding (GO:0008429)|phospholipid binding (GO:0005543)	p.E66*(1)		cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						CAACATGAGCGAGTTGGTCAA	0.642																																						ENST00000360668.3																			1	Substitution - Nonsense(1)	p.E66*(1)	kidney(1)	cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						c.(184-186)Gag>Aag		microtubule-associated protein 1 light chain 3 alpha							46.0	44.0	45.0					20																	33147238		2200	4297	6497	SO:0001583	missense	84557				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding	g.chr20:33147238G>A		CCDS13237.1, CCDS13238.1	20q11.22	2014-02-12			ENSG00000101460	ENSG00000101460			6838	protein-coding gene	gene with protein product		601242				8833088, 17580304	Standard	NM_032514		Approved	MAP1BLC3, MAP1ALC3, LC3, LC3A, ATG8E	uc002xaq.2	Q9H492	OTTHUMG00000032306	ENST00000360668.3:c.184G>A	20.37:g.33147238G>A	ENSP00000353886:p.Glu62Lys					MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.E62K|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.E66K	p.E62K			Q9H492	MLP3A_HUMAN			3	945	+			62					E1P5P4|E1P5P5|Q9BXW5	Missense_Mutation	SNP	ENST00000360668.3	37	c.184G>A	CCDS13238.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.827134	0.90955	.	.	ENSG00000101460	ENST00000374837;ENST00000360668;ENST00000397709	T;T;T	0.44482	0.92;0.92;0.92	5.08	5.08	0.68730	.	0.045827	0.85682	D	0.000000	T	0.62454	0.2429	M	0.64260	1.97	0.80722	D	1	P;D	0.76494	0.62;0.999	B;D	0.68483	0.36;0.958	T	0.65606	-0.6127	10	0.66056	D	0.02	-5.0995	18.0581	0.89369	0.0:0.0:1.0:0.0	.	62;66	Q9H492;Q9H492-2	MLP3A_HUMAN;.	K	66;62;62	ENSP00000363970:E66K;ENSP00000353886:E62K;ENSP00000380821:E62K	ENSP00000353886:E62K	E	+	1	0	MAP1LC3A	32610899	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.927000	0.87577	2.357000	0.79964	0.313000	0.20887	GAG		0.642	MAP1LC3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078801.2	NM_181509		9	26	0	0	0	1	0	9	26				
BTNL2	56244	broad.mit.edu	37	6	32372949	32372949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:32372949C>T	ENST00000374993.1	-	2	193	c.194G>A	c.(193-195)tGg>tAg	p.W65*	BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000429232.2_Nonsense_Mutation_p.W65*|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000454136.3_Nonsense_Mutation_p.W65*|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.W65*	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	65	Ig-like V-type 1.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TGAGCGGTACCACCTCACCTC	0.577																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(193-195)tGg>tAg		butyrophilin-like 2 (MHC class II associated)							191.0	180.0	184.0					6																	32372949		1511	2709	4220	SO:0001587	stop_gained	56244					integral to membrane		g.chr6:32372949C>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.194G>A	6.37:g.32372949C>T	ENSP00000364132:p.Trp65*					BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374993.1_Nonsense_Mutation_p.W65*|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.W65*|BTNL2_ENST00000429232.2_Nonsense_Mutation_p.W65*|BTNL2_ENST00000544175.1_Intron	p.W65*			Q9UIR0	BTNL2_HUMAN			2	198	-			65			Ig-like V-type 1.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Nonsense_Mutation	SNP	ENST00000374993.1	37	c.194G>A		.	.	.	.	.	.	.	.	.	.	C	22.5	4.295421	0.81025	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000374993;ENST00000429232;ENST00000446536	.	.	.	4.91	4.91	0.64330	.	0.000000	0.42172	D	0.000753	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1434	0.81544	0.0:1.0:0.0:0.0	.	.	.	.	X	65;65;65;65;64	.	ENSP00000364132:W65X	W	-	2	0	BTNL2	32480927	1.000000	0.71417	0.999000	0.59377	0.102000	0.19082	4.749000	0.62155	2.755000	0.94549	0.632000	0.83419	TGG		0.577	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		30	96	0	0	0	1	0	30	96				
RASL11A	387496	broad.mit.edu	37	13	27847630	27847630	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr13:27847630G>A	ENST00000241463.4	+	4	1346	c.728G>A	c.(727-729)tGa>tAa	p.*243*		NM_206827.1	NP_996563.1			RAS-like, family 11, member A											breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		GCACTGGGGTGAACTATCTCA	0.483																																						ENST00000241463.4																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10						c.(727-729)tGa>tAa		RAS-like, family 11, member A							28.0	29.0	29.0					13																	27847630		2203	4300	6503	SO:0001819	synonymous_variant	387496				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity	g.chr13:27847630G>A	AY439004	CCDS9321.1	13q12.2	2014-05-09			ENSG00000122035	ENSG00000122035			23802	protein-coding gene	gene with protein product		612403				15033445	Standard	NM_206827		Approved		uc001urd.1	Q6T310	OTTHUMG00000016627	ENST00000241463.4:c.728G>A	13.37:g.27847630G>A							p.*243*	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)	4	1346	+		Lung SC(185;0.0161)	0						Silent	SNP	ENST00000241463.4	37	c.728G>A	CCDS9321.1																																																																																				0.483	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044265.2	NM_206827		9	36	0	0	0	1	0	9	36				
HERC2P3	283755	broad.mit.edu	37	15	20657700	20657700	+	RNA	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:20657700C>T	ENST00000428453.1	-	0	2258							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CGCTGTGCTGCAGGGTGAGCA	0.602																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															30.0	25.0	27.0					15																	20657700		1517	3187	4704			283755							g.chr15:20657700C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20657700C>T														0	2258	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.602	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		5	35	0	0	0	1	0	5	35				
PCDHGA12	26025	broad.mit.edu	37	5	140811313	140811313	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:140811313G>A	ENST00000252085.3	+	1	1129	c.987G>A	c.(985-987)gcG>gcA	p.A329A	PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	329	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTGCGCGAGCCAAAG	0.512																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(985-987)gcG>gcA									136.0	126.0	129.0					5																	140811313		2203	4300	6503	SO:0001819	synonymous_variant	26025							g.chr5:140811313G>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.987G>A	5.37:g.140811313G>A						PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	p.A329A	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1129	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.987G>A	CCDS4260.1																																																																																				0.512	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		33	94	0	0	0	1	0	33	94				
IGLV2-33	28811	broad.mit.edu	37	22	22931032	22931032	+	RNA	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr22:22931032C>T	ENST00000390302.2	+	0	285									immunoglobulin lambda variable 2-33 (non-functional)																		AATACTCGGCCTTCAGGGATC	0.507																																						ENST00000390302.2																			0																				246.0	241.0	243.0					22																	22931032		2002	4172	6174			28811							g.chr22:22931032C>T	Z73643		22q11.2	2012-02-08	2008-09-15		ENSG00000211656	ENSG00000211656		"""Immunoglobulins / IGL locus"""	5892	other	immunoglobulin gene			"""immunoglobulin lambda variable 2-33"""				Standard	NG_000002		Approved				OTTHUMG00000151178		22.37:g.22931032C>T														0	285	+									RNA	SNP	ENST00000390302.2	37																																																																																						0.507	IGLV2-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321664.2	NG_000002		46	244	0	0	0	1	0	46	244				
PLEC	5339	broad.mit.edu	37	8	144994004	144994004	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:144994004C>G	ENST00000322810.4	-	32	10565	c.10396G>C	c.(10396-10398)Gag>Cag	p.E3466Q	PLEC_ENST00000354958.2_Missense_Mutation_p.E3307Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3352Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3315Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3356Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3329Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3329Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3333Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3297Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3466	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGAGCTGCTCAAACTGGGCT	0.677																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(10396-10398)Gag>Cag		plectin							30.0	35.0	33.0					8																	144994004		2039	4189	6228	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994004C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10396G>C	8.37:g.144994004C>G	ENSP00000323856:p.Glu3466Gln					PLEC_ENST00000398774.2_Missense_Mutation_p.E3297Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3307Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3329Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3329Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3333Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3352Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3356Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3315Q	p.E3466Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	10565	-			3466			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10396G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885464	0.33255	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.11	4.22	0.49857	.	0.166540	0.37261	U	0.002164	T	0.55226	0.1907	L	0.28274	0.84	0.37743	D	0.925693	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.09377	0.004;0.004;0.004;0.002;0.004;0.004;0.004;0.004	T	0.56492	-0.7970	10	0.62326	D	0.03	.	15.1655	0.72821	0.0:0.8577:0.1423:0.0	.	3356;3315;3307;3466;3297;3329;3333;3329	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3329;3333;3329;3297;3466;3307;3315;3356;3352	ENSP00000344848:E3329Q;ENSP00000350277:E3333Q;ENSP00000346602:E3329Q;ENSP00000381756:E3297Q;ENSP00000323856:E3466Q;ENSP00000347044:E3307Q;ENSP00000348702:E3315Q;ENSP00000388180:E3356Q;ENSP00000434583:E3352Q	ENSP00000323856:E3466Q	E	-	1	0	PLEC	145065992	0.994000	0.37717	0.973000	0.42090	0.974000	0.67602	2.686000	0.46968	1.112000	0.41740	0.448000	0.29417	GAG		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		14	56	0	0	0	1	0	14	56				
CRLF1	9244	broad.mit.edu	37	19	18710558	18710558	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:18710558C>T	ENST00000392386.3	-	2	407	c.214G>A	c.(214-216)Gag>Aag	p.E72K		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	72	Ig-like C2-type.				negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TAGAGGCCCTCGGCGGTGGCT	0.662																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(214-216)Gag>Aag		cytokine receptor-like factor 1							17.0	18.0	18.0					19																	18710558		2191	4292	6483	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18710558C>T	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.214G>A	19.37:g.18710558C>T	ENSP00000376188:p.Glu72Lys						p.E72K	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			2	407	-			72			Ig-like C2-type.		Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.214G>A	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709637	0.30322	.	.	ENSG00000006016	ENST00000392386	D	0.85556	-2.0	5.23	5.23	0.72850	Immunoglobulin-like fold (1);	0.275476	0.36167	N	0.002754	T	0.71978	0.3404	N	0.19112	0.55	0.31475	N	0.667932	B	0.28880	0.226	B	0.19666	0.026	T	0.67428	-0.5673	10	0.10636	T	0.68	-18.4256	13.9526	0.64129	0.0:0.8467:0.1533:0.0	.	72	O75462	CRLF1_HUMAN	K	72	ENSP00000376188:E72K	ENSP00000376188:E72K	E	-	1	0	CRLF1	18571558	0.987000	0.35691	0.528000	0.27938	0.453000	0.32348	3.407000	0.52644	2.449000	0.82847	0.511000	0.50034	GAG		0.662	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			3	11	0	0	0	1	0	3	11				
ZNF568	374900	broad.mit.edu	37	19	37488171	37488171	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:37488171G>A	ENST00000455427.2	+	9	1715	c.1386G>A	c.(1384-1386)caG>caA	p.Q462Q		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCGACATCAGAGTGTCCATA	0.448																																						ENST00000455427.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(1384-1386)caG>caA		zinc finger protein 568																																				SO:0001819	synonymous_variant	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37488171G>A	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.1386G>A	19.37:g.37488171G>A							p.Q462Q	NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		9	1715	+	Esophageal squamous(110;0.183)		549					B4DS92|E7ER33|Q6N060|Q8NA64	Silent	SNP	ENST00000455427.2	37	c.1386G>A	CCDS56093.1																																																																																				0.448	ZNF568-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000457465.1	NM_198539		4	8	0	0	0	1	0	4	8				
DMTF1	9988	broad.mit.edu	37	7	86824078	86824078	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:86824078C>A	ENST00000394703.5	+	19	2670	c.2107C>A	c.(2107-2109)Cat>Aat	p.H703N	DMTF1_ENST00000331242.7_Missense_Mutation_p.H703N|DMTF1_ENST00000413276.2_Missense_Mutation_p.H633N|DMTF1_ENST00000414194.2_Missense_Mutation_p.H437N|TMEM243_ENST00000481425.1_5'Flank|DMTF1_ENST00000432937.2_Missense_Mutation_p.H615N	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	703	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TCCTTCACCACATGGCTTTAT	0.333																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(1309-1311)Cat>Aat		cyclin D binding myb-like transcription factor 1							126.0	117.0	120.0					7																	86824078		2203	4297	6500	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86824078C>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.2107C>A	7.37:g.86824078C>A	ENSP00000378193:p.His703Asn					DMTF1_ENST00000394703.5_Missense_Mutation_p.H703N|DMTF1_ENST00000432937.2_Missense_Mutation_p.H615N|DMTF1_ENST00000413276.2_Missense_Mutation_p.H633N|DMTF1_ENST00000331242.7_Missense_Mutation_p.H703N	p.H437N			Q9Y222	DMTF1_HUMAN			17	3101	+	Esophageal squamous(14;0.0058)		703			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.1309C>A	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835249	0.50951	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.45276	0.95;0.9;0.95;0.95;0.94	6.16	6.16	0.99307	.	0.363662	0.32769	N	0.005665	T	0.28995	0.0720	N	0.14661	0.345	0.32856	D	0.507281	B	0.16166	0.016	B	0.09377	0.004	T	0.19063	-1.0317	10	0.21014	T	0.42	-12.7902	18.0158	0.89239	0.0:1.0:0.0:0.0	.	703	Q9Y222	DMTF1_HUMAN	N	703;633;615;703;437	ENSP00000332171:H703N;ENSP00000402627:H633N;ENSP00000412532:H615N;ENSP00000378193:H703N;ENSP00000415910:H437N	ENSP00000332171:H703N	H	+	1	0	DMTF1	86662014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.362000	0.52314	2.937000	0.99478	0.650000	0.86243	CAT		0.333	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		10	57	1	0	2.27111e-07	1	2.34028e-07	10	57				
NBPF1	55672	broad.mit.edu	37	1	16893758	16893758	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:16893758C>G	ENST00000430580.2	-	25	3642	c.2755G>C	c.(2755-2757)Gaa>Caa	p.E919Q	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	919	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					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)		TCAGTCAGTTCAAGATAACCT	0.493																																						ENST00000430580.2																			0											c.(2755-2757)Gaa>Caa		neuroblastoma breakpoint family, member 1							813.0	710.0	745.0					1																	16893758		2203	4298	6501	SO:0001583	missense	55672					cytoplasm		g.chr1:16893758C>G	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.2755G>C	1.37:g.16893758C>G	ENSP00000474456:p.Glu919Gln					NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.E919Q	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)	25	3642	-			919			NBPF 5.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2755G>C																																																																																					0.493	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		24	1036	0	0	0	1	0	24	1036				
HIPK1	204851	broad.mit.edu	37	1	114483273	114483273	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:114483273G>C	ENST00000369558.1	+	2	500	c.268G>C	c.(268-270)Gat>Cat	p.D90H	HIPK1_ENST00000369561.4_Missense_Mutation_p.D90H|HIPK1_ENST00000369555.2_Missense_Mutation_p.D90H|HIPK1_ENST00000369559.4_Missense_Mutation_p.D90H|HIPK1_ENST00000369554.2_Missense_Mutation_p.D90H|HIPK1_ENST00000426820.2_Missense_Mutation_p.D90H			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	90					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAGCCGCTGATAGCTCGGG	0.507																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(268-270)Gat>Cat		homeodomain interacting protein kinase 1							69.0	71.0	71.0					1																	114483273		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114483273G>C	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.268G>C	1.37:g.114483273G>C	ENSP00000358571:p.Asp90His					HIPK1_ENST00000369555.2_Missense_Mutation_p.D90H|HIPK1_ENST00000426820.2_Missense_Mutation_p.D90H|HIPK1_ENST00000369554.2_Missense_Mutation_p.D90H|HIPK1_ENST00000369559.4_Missense_Mutation_p.D90H|HIPK1_ENST00000369561.4_Missense_Mutation_p.D90H	p.D90H			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	500	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	90					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.268G>C	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486109	0.63962	.	.	ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000514621;ENST00000503968	T;T;T;T;T;T;T;T;T	0.52983	0.7;0.74;0.76;0.76;0.76;0.76;0.77;0.67;0.64	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000004	T	0.55657	0.1934	L	0.43923	1.385	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.85130	0.737;0.997	T	0.53507	-0.8429	10	0.44086	T	0.13	.	19.1431	0.93452	0.0:0.0:1.0:0.0	.	90;90	Q86Z02;Q86Z02-2	HIPK1_HUMAN;.	H	161;90;90;90;90;90;90;90;90	ENSP00000407442:D161H;ENSP00000358572:D90H;ENSP00000409673:D90H;ENSP00000358567:D90H;ENSP00000358568:D90H;ENSP00000358571:D90H;ENSP00000358574:D90H;ENSP00000422322:D90H;ENSP00000426695:D90H	ENSP00000358567:D90H	D	+	1	0	HIPK1	114284796	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	3.347000	0.52200	2.511000	0.84671	0.650000	0.86243	GAT		0.507	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		18	97	0	0	0	1	0	18	97				
STX16	8675	broad.mit.edu	37	20	57246299	57246299	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:57246299C>T	ENST00000371141.4	+	7	1462	c.738C>T	c.(736-738)tcC>tcT	p.S246S	STX16_ENST00000496003.1_Intron|STX16_ENST00000361830.3_Silent_p.S246S|STX16-NPEPL1_ENST00000530122.1_Silent_p.S246S|STX16_ENST00000371132.4_Silent_p.S225S|STX16_ENST00000359617.4_Silent_p.S193S|STX16_ENST00000355957.5_Silent_p.S229S|STX16_ENST00000361770.5_Silent_p.S229S|STX16_ENST00000358029.4_Silent_p.S242S	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	246	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TTGTACAGTCCATTTCTGACC	0.478																																						ENST00000371141.4																			0				breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(736-738)tcC>tcT		syntaxin 16							149.0	136.0	141.0					20																	57246299		2203	4300	6503	SO:0001819	synonymous_variant	8675				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity	g.chr20:57246299C>T	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.738C>T	20.37:g.57246299C>T						STX16-NPEPL1_ENST00000530122.1_Silent_p.S246S|STX16_ENST00000358029.4_Silent_p.S242S|STX16_ENST00000496003.1_Intron|STX16_ENST00000359617.4_Silent_p.S193S|STX16_ENST00000371132.4_Silent_p.S225S|STX16_ENST00000355957.5_Silent_p.S229S|STX16_ENST00000361830.3_Silent_p.S246S|STX16_ENST00000361770.5_Silent_p.S229S	p.S246S	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)		7	1462	+	all_lung(29;0.0175)		246			t-SNARE coiled-coil homology.		A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Silent	SNP	ENST00000371141.4	37	c.738C>T	CCDS13468.1																																																																																				0.478	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433		18	101	0	0	0	1	0	18	101				
TSKS	60385	broad.mit.edu	37	19	50243317	50243317	+	Splice_Site	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:50243317C>G	ENST00000246801.3	-	10	1703	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	TSKS_ENST00000358830.3_Splice_Site_p.E341Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	541					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTTCCTCACTCTGGCTTCATC	0.622																																						ENST00000246801.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38						c.e10+1		testis-specific serine kinase substrate							124.0	115.0	118.0					19																	50243317		2203	4300	6503	SO:0001630	splice_region_variant	60385						protein binding	g.chr19:50243317C>G	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1622+1G>C	19.37:g.50243317C>G						TSKS_ENST00000358830.3_Splice_Site_p.E341_splice	p.E541_splice	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)	10	1703	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	541					Q8WXJ0	Splice_Site	SNP	ENST00000246801.3	37	c.1622_splice	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762478	0.69763	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.34667	1.35;1.35	4.81	4.81	0.61882	.	0.264692	0.26723	N	0.022831	T	0.45054	0.1323	N	0.24115	0.695	0.33943	D	0.643454	D	0.67145	0.996	D	0.78314	0.991	T	0.58674	-0.7595	10	0.87932	D	0	-18.4381	13.2401	0.59992	0.0:1.0:0.0:0.0	.	541	Q9UJT2	TSKS_HUMAN	Q	541;341	ENSP00000246801:E541Q;ENSP00000351691:E341Q	ENSP00000246801:E541Q	E	-	1	0	TSKS	54935129	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.222000	0.42926	2.490000	0.84030	0.609000	0.83330	GAG		0.622	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	Missense_Mutation	38	127	0	0	0	1	0	38	127				
RASGRF1	5923	broad.mit.edu	37	15	79292223	79292223	+	Missense_Mutation	SNP	C	C	T	rs141523460		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:79292223C>T	ENST00000419573.3	-	18	2930	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I	RASGRF1_ENST00000394745.3_Missense_Mutation_p.V102I|RASGRF1_ENST00000558480.2_Missense_Mutation_p.V870I|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	886					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGGTCATGACGACTCCATTG	0.567													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19865	0.0		0.0	False		,,,				2504	0.0					ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2656-2658)Gtc>Atc		Ras protein-specific guanine nucleotide-releasing factor 1		C	ILE/VAL,ILE/VAL,ILE/VAL	0,4392		0,0,2196	108.0	97.0	101.0		2608,2656,304	2.4	0.4	15	dbSNP_134	101	12,8574	9.1+/-34.3	0,12,4281	yes	missense,missense,missense	RASGRF1	NM_001145648.1,NM_002891.4,NM_153815.2	29,29,29	0,12,6477	TT,TC,CC		0.1398,0.0,0.0925	benign,benign,benign	870/1258,886/1274,102/490	79292223	12,12966	2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79292223C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2656G>A	15.37:g.79292223C>T	ENSP00000405963:p.Val886Ile					RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.V870I|RASGRF1_ENST00000394745.3_Missense_Mutation_p.V102I	p.V886I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			18	2930	-			888					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2656G>A	CCDS10309.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	14.41	2.527015	0.44969	0.0	0.001398	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.69040	-0.37;-0.37	4.34	2.42	0.29668	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	1.560070	0.04315	N	0.349641	T	0.62258	0.2413	M	0.68593	2.085	0.45118	D	0.998138	B;B;B;B	0.28933	0.051;0.081;0.226;0.228	B;B;B;B	0.18871	0.003;0.01;0.017;0.023	T	0.42085	-0.9472	10	0.22109	T	0.4	.	7.269	0.26246	0.0:0.7294:0.1726:0.0979	.	282;870;888;870	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	I	886;870;102	ENSP00000405963:V886I;ENSP00000378228:V102I	ENSP00000378224:V870I	V	-	1	0	RASGRF1	77079278	0.999000	0.42202	0.390000	0.26220	0.761000	0.43186	4.147000	0.58078	0.445000	0.26639	0.591000	0.81541	GTC		0.567	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		19	73	0	0	0	1	0	19	73				
LRRK1	79705	broad.mit.edu	37	15	101592104	101592104	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:101592104G>A	ENST00000388948.3	+	24	3987	c.3628G>A	c.(3628-3630)Gac>Aac	p.D1210N	LRRK1_ENST00000284395.5_Missense_Mutation_p.D1207N|RP11-505E24.2_ENST00000559857.1_RNA|RP11-505E24.3_ENST00000558979.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGACACCCGGACCTCCCCGT	0.617																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(3619-3621)Gac>Aac		leucine-rich repeat kinase 1							49.0	58.0	55.0					15																	101592104		2026	4182	6208	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101592104G>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.3628G>A	15.37:g.101592104G>A	ENSP00000373600:p.Asp1210Asn					LRRK1_ENST00000388948.3_Missense_Mutation_p.D1210N|RP11-505E24.2_ENST00000559857.1_RNA	p.D1207N			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		25	4019	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1210						Missense_Mutation	SNP	ENST00000388948.3	37	c.3619G>A	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217129	0.58560	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.72615	-0.65;-0.67	5.41	4.5	0.54988	.	0.186281	0.46758	D	0.000264	T	0.59224	0.2178	N	0.24115	0.695	0.39718	D	0.971426	D	0.53151	0.958	P	0.45343	0.477	T	0.58020	-0.7710	10	0.22109	T	0.4	.	13.6821	0.62491	0.074:0.0:0.926:0.0	.	1210	Q38SD2	LRRK1_HUMAN	N	1210;1207	ENSP00000373600:D1210N;ENSP00000284395:D1207N	ENSP00000284395:D1207N	D	+	1	0	LRRK1	99409627	0.996000	0.38824	0.127000	0.21898	0.945000	0.59286	2.437000	0.44828	1.286000	0.44565	0.655000	0.94253	GAC		0.617	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		12	29	0	0	0	1	0	12	29				
SBF1	6305	broad.mit.edu	37	22	50893798	50893798	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr22:50893798C>T	ENST00000390679.3	-	32	4515	c.4331G>A	c.(4330-4332)cGc>cAc	p.R1444H	SBF1_ENST00000476293.1_5'Flank|SBF1_ENST00000348911.6_Missense_Mutation_p.R1445H|SBF1_ENST00000380817.3_Missense_Mutation_p.R1470H			O95248	MTMR5_HUMAN	SET binding factor 1	1444	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCCAGCGTGCGGTAGAAGGG	0.682																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4408-4410)cGc>cAc		SET binding factor 1							37.0	46.0	43.0					22																	50893798		2194	4285	6479	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50893798C>T	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4331G>A	22.37:g.50893798C>T	ENSP00000375097:p.Arg1444His					SBF1_ENST00000348911.6_Missense_Mutation_p.R1445H|SBF1_ENST00000390679.3_Missense_Mutation_p.R1444H	p.R1470H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	33	4592	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1444			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.4409G>A		.	.	.	.	.	.	.	.	.	.	C	28.5	4.921496	0.92249	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.98164	-4.76;-4.76;-4.76	4.12	4.12	0.48240	Myotubularin phosphatase domain (1);	0.062472	0.64402	D	0.000006	D	0.99399	0.9788	H	0.98525	4.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	D	0.98081	1.0404	10	0.87932	D	0	.	16.5077	0.84277	0.0:1.0:0.0:0.0	.	1444;1470	O95248;O95248-4	MTMR5_HUMAN;.	H	1470;1445;1480;1444	ENSP00000370196:R1470H;ENSP00000252027:R1445H;ENSP00000375097:R1444H	ENSP00000336522:R1480H	R	-	2	0	SBF1	49240664	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.430000	0.80321	2.294000	0.77228	0.563000	0.77884	CGC		0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding				3	49	0	0	0	1	0	3	49				
ATRX	546	broad.mit.edu	37	X	76776328	76776328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:76776328G>A	ENST00000373344.5	-	34	7352	c.7138C>T	c.(7138-7140)Cag>Tag	p.Q2380*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q2342*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2380					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCAAGCTCCTGGCTGGCTTGT	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(7138-7140)Cag>Tag		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						144.0	122.0	130.0					X																	76776328		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76776328G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.7138C>T	X.37:g.76776328G>A	ENSP00000362441:p.Gln2380*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q2342*	p.Q2380*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			34	7352	-			2380					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.7138C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	49	15.191032	0.99825	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	5.17	5.17	0.71159	.	0.347867	0.27782	N	0.017866	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	17.8303	0.88680	0.0:0.0:1.0:0.0	.	.	.	.	X	2380;2342	.	ENSP00000362441:Q2380X	Q	-	1	0	ATRX	76662984	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.544000	0.60691	2.143000	0.66587	0.513000	0.50165	CAG		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		22	64	0	0	0	1	0	22	64				
ACAT2	39	broad.mit.edu	37	6	160189587	160189587	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:160189587G>T	ENST00000367048.4	+	4	2177	c.417G>T	c.(415-417)gaG>gaT	p.E139D	ACAT2_ENST00000541436.1_Missense_Mutation_p.E168D	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	139					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acetyl-CoA C-acetyltransferase activity (GO:0003985)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGATAGGTGAGATGCCACTGA	0.413																																						ENST00000367048.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(415-417)gaG>gaT		acetyl-CoA acetyltransferase 2							184.0	165.0	172.0					6																	160189587		2203	4300	6503	SO:0001583	missense	39					mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding	g.chr6:160189587G>T	AF356877	CCDS5268.1	6q25.3	2014-05-19	2010-04-30		ENSG00000120437	ENSG00000120437	2.3.1.9		94	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	100678	"""acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A thiolase)"", ""acetyl-Coenzyme A acetyltransferase 2"""			2475872	Standard	NM_005891		Approved		uc010kjy.3	Q9BWD1	OTTHUMG00000015935	ENST00000367048.4:c.417G>T	6.37:g.160189587G>T	ENSP00000356015:p.Glu139Asp					ACAT2_ENST00000541436.1_Missense_Mutation_p.E168D	p.E139D	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	4	2177	+		Breast(66;0.000776)|Ovarian(120;0.0303)	139					B7Z233|E1P5B1|Q16146|Q5TCL7|Q8TDM4	Missense_Mutation	SNP	ENST00000367048.4	37	c.417G>T	CCDS5268.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.866977	0.00547	.	.	ENSG00000120437	ENST00000367048;ENST00000541436	T;T	0.34472	1.36;1.36	5.64	1.64	0.23874	Thiolase, N-terminal (1);Thiolase-like (1);	0.047968	0.85682	D	0.000000	T	0.02342	0.0072	N	0.02011	-0.69	0.18873	N	0.999982	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43814	-0.9368	10	0.02654	T	1	1.1883	4.058	0.09826	0.2792:0.0:0.4535:0.2673	.	168;139	B7Z233;Q9BWD1	.;THIC_HUMAN	D	139;168	ENSP00000356015:E139D;ENSP00000437850:E168D	ENSP00000356015:E139D	E	+	3	2	ACAT2	160109577	0.290000	0.24343	0.048000	0.18961	0.014000	0.08584	0.324000	0.19610	0.404000	0.25506	0.650000	0.86243	GAG		0.413	ACAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042912.1	NM_005891		26	93	1	0	9.86323e-18	1	1.05938e-17	26	93				
CBLC	23624	broad.mit.edu	37	19	45296736	45296736	+	Silent	SNP	G	G	A	rs535354110		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:45296736G>A	ENST00000270279.3	+	8	1206	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	CBLC_ENST00000341505.4_Silent_p.S335S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	381	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCCAGCACTCGGACAGCCAGA	0.627			M		AML																																	ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1141-1143)tcG>tcA		Cbl proto-oncogene C, E3 ubiquitin protein ligase							36.0	32.0	33.0					19																	45296736		2203	4300	6503	SO:0001819	synonymous_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45296736G>A	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1143G>A	19.37:g.45296736G>A						CBLC_ENST00000341505.4_Silent_p.S335S	p.S381S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			8	1206	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	381					Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	ENST00000270279.3	37	c.1143G>A	CCDS12643.1																																																																																				0.627	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		4	21	0	0	0	1	0	4	21				
ZNF438	220929	broad.mit.edu	37	10	31134180	31134180	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:31134180G>A	ENST00000361310.3	-	7	2526	c.2197C>T	c.(2197-2199)Cat>Tat	p.H733Y	ZNF438_ENST00000436087.2_Missense_Mutation_p.H733Y|ZNF438_ENST00000331737.6_Missense_Mutation_p.H723Y|ZNF438_ENST00000444692.2_Missense_Mutation_p.H723Y|ZNF438_ENST00000442986.1_Missense_Mutation_p.H733Y|ZNF438_ENST00000538351.2_Missense_Mutation_p.H684Y|ZNF438_ENST00000452305.1_Missense_Mutation_p.H723Y|ZNF438_ENST00000413025.1_Missense_Mutation_p.H733Y|ZNF438_ENST00000375311.1_Missense_Mutation_p.H297Y			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	733					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCATTCTGATGAAGGTGGAGC	0.542																																						ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2050-2052)Cat>Tat		zinc finger protein 438							99.0	102.0	101.0					10																	31134180		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31134180G>A	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2197C>T	10.37:g.31134180G>A	ENSP00000354663:p.His733Tyr					ZNF438_ENST00000331737.6_Missense_Mutation_p.H723Y|ZNF438_ENST00000361310.3_Missense_Mutation_p.H733Y|ZNF438_ENST00000452305.1_Missense_Mutation_p.H723Y|ZNF438_ENST00000413025.1_Missense_Mutation_p.H733Y|ZNF438_ENST00000444692.2_Missense_Mutation_p.H723Y|ZNF438_ENST00000375311.1_Missense_Mutation_p.H297Y|ZNF438_ENST00000436087.2_Missense_Mutation_p.H733Y|ZNF438_ENST00000442986.1_Missense_Mutation_p.H733Y	p.H684Y	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			8	2804	-		Prostate(175;0.0587)	733					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.2050C>T	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753032	0.69648	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.14144	2.53;2.54;2.54;2.54;2.54;2.53;2.53;2.53;2.59	5.5	5.5	0.81552	.	0.551776	0.22719	N	0.056462	T	0.26882	0.0658	L	0.58101	1.795	0.09310	N	0.999999	D;D	0.59767	0.976;0.986	P;P	0.51016	0.454;0.656	T	0.03728	-1.1009	10	0.72032	D	0.01	-5.1125	18.7617	0.91855	0.0:0.0:1.0:0.0	.	733;723	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	Y	723;733;733;733;733;723;723;684;452;297	ENSP00000333571:H723Y;ENSP00000354663:H733Y;ENSP00000406934:H733Y;ENSP00000412363:H733Y;ENSP00000387546:H733Y;ENSP00000413060:H723Y;ENSP00000410898:H723Y;ENSP00000445461:H684Y;ENSP00000364460:H297Y	ENSP00000333571:H723Y	H	-	1	0	ZNF438	31174186	0.889000	0.30405	0.011000	0.14972	0.765000	0.43378	2.330000	0.43885	2.744000	0.94065	0.655000	0.94253	CAT		0.542	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		27	103	0	0	0	1	0	27	103				
CLTC	1213	broad.mit.edu	37	17	57746152	57746152	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:57746152C>G	ENST00000269122.3	+	14	2417	c.2143C>G	c.(2143-2145)Ctg>Gtg	p.L715V	CLTC_ENST00000393043.1_Missense_Mutation_p.L715V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	715	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTTTTATTTTCTGGGATCCAT	0.328			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(2143-2145)Ctg>Gtg		clathrin, heavy chain (Hc)							124.0	116.0	119.0					17																	57746152		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57746152C>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2143C>G	17.37:g.57746152C>G	ENSP00000269122:p.Leu715Val					CLTC_ENST00000393043.1_Missense_Mutation_p.L715V|CLTC_ENST00000579456.1_Intron	p.L715V	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			14	2417	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		715			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.2143C>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118481	0.77323	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.67345	-0.26;-0.26	5.98	5.98	0.97165	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85758	0.5771	M	0.88450	2.955	0.80722	D	1	D;D	0.63880	0.978;0.993	D;D	0.77557	0.99;0.972	D	0.86731	0.1948	10	0.66056	D	0.02	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	715;715	Q00610;Q00610-2	CLH1_HUMAN;.	V	715	ENSP00000269122:L715V;ENSP00000376763:L715V	ENSP00000269122:L715V	L	+	1	2	CLTC	55100934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.715000	0.37971	2.838000	0.97847	0.655000	0.94253	CTG		0.328	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		6	18	0	0	0	1	0	6	18				
DAAM1	23002	broad.mit.edu	37	14	59789756	59789756	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:59789756C>A	ENST00000395125.1	+	5	610	c.587C>A	c.(586-588)gCt>gAt	p.A196D	DAAM1_ENST00000351081.1_Missense_Mutation_p.A196D|DAAM1_ENST00000360909.3_Missense_Mutation_p.A196D	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	196	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAAGGCCGGGCTCACGTCCTG	0.463																																						ENST00000395125.1																			0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(586-588)gCt>gAt		dishevelled associated activator of morphogenesis 1							75.0	71.0	72.0					14																	59789756		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59789756C>A	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.587C>A	14.37:g.59789756C>A	ENSP00000378557:p.Ala196Asp					DAAM1_ENST00000360909.3_Missense_Mutation_p.A196D|DAAM1_ENST00000351081.1_Missense_Mutation_p.A196D	p.A196D	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	5	610	+			196			GBD/FH3.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.587C>A	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609556	0.87258	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	D;D;D	0.86164	-2.08;-2.08;-2.08	6.16	6.16	0.99307	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.92773	0.7702	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.997;0.998	D	0.88102	0.2820	10	0.13108	T	0.6	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	196;196	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	D	196	ENSP00000354162:A196D;ENSP00000247170:A196D;ENSP00000378557:A196D	ENSP00000247170:A196D	A	+	2	0	DAAM1	58859509	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GCT		0.463	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		9	34	1	0	1.12685e-05	1	1.14375e-05	9	34				
KDM3B	51780	broad.mit.edu	37	5	137735605	137735605	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:137735605G>A	ENST00000314358.5	+	11	3303	c.3103G>A	c.(3103-3105)Gaa>Aaa	p.E1035K	KDM3B_ENST00000542866.1_Missense_Mutation_p.E67K|KDM3B_ENST00000394866.1_Missense_Mutation_p.E691K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1035					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGATGTGTGTGAAACAACTCT	0.507																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3103-3105)Gaa>Aaa		lysine (K)-specific demethylase 3B							244.0	173.0	197.0					5																	137735605		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137735605G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3103G>A	5.37:g.137735605G>A	ENSP00000326563:p.Glu1035Lys					KDM3B_ENST00000542866.1_Missense_Mutation_p.E67K|KDM3B_ENST00000394866.1_Missense_Mutation_p.E691K	p.E1035K	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			11	3303	+			1035					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.3103G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	35	5.549694	0.96501	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;D;D	0.89939	-0.09;-2.59;-2.18	5.49	4.61	0.57282	.	0.046929	0.85682	D	0.000000	D	0.93357	0.7882	M	0.71036	2.16	0.80722	D	1	P;D	0.71674	0.869;0.998	P;D	0.67548	0.475;0.952	D	0.93225	0.6612	10	0.48119	T	0.1	-19.6743	16.1562	0.81670	0.0:0.1338:0.8662:0.0	.	691;1035	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	K	1035;825;691;67	ENSP00000326563:E1035K;ENSP00000378335:E691K;ENSP00000439462:E67K	ENSP00000326563:E1035K	E	+	1	0	KDM3B	137763504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.793000	0.99091	1.254000	0.44035	0.655000	0.94253	GAA		0.507	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		17	53	0	0	0	1	0	17	53				
CCDC172	374355	broad.mit.edu	37	10	118084573	118084573	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:118084573C>T	ENST00000333254.3	+	2	301	c.50C>T	c.(49-51)gCg>gTg	p.A17V	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1	P0C7W6	CC172_HUMAN	coiled-coil domain containing 172	17																	GAGCATCAGGCGGAGGAGAGT	0.512																																						ENST00000333254.3																			0											c.(49-51)gCg>gTg		coiled-coil domain containing 172							109.0	115.0	113.0					10																	118084573		2203	4300	6503	SO:0001583	missense	374355							g.chr10:118084573C>T	BC044830	CCDS31291.1	10q26.11-q26.12	2012-05-31	2012-05-31	2012-05-31	ENSG00000182645	ENSG00000182645			30524	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 96"""	C10orf96		12477932	Standard	NM_198515		Approved	MGC35062	uc001lck.3	P0C7W6	OTTHUMG00000019098	ENST00000333254.3:c.50C>T	10.37:g.118084573C>T	ENSP00000329860:p.Ala17Val					CCDC172_ENST00000497093.1_3'UTR	p.A17V	NM_198515.2	NP_940917.1					2	301	+									Missense_Mutation	SNP	ENST00000333254.3	37	c.50C>T	CCDS31291.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698603	0.48307	.	.	ENSG00000182645	ENST00000333254;ENST00000423072	.	.	.	5.41	5.41	0.78517	.	0.166361	0.40222	N	0.001151	T	0.75788	0.3897	L	0.61036	1.89	0.38280	D	0.942412	D	0.89917	1.0	D	0.87578	0.998	T	0.76958	-0.2766	9	0.40728	T	0.16	-16.986	14.6977	0.69134	0.0:1.0:0.0:0.0	.	17	P0C7W6	CJ096_HUMAN	V	17	.	ENSP00000329860:A17V	A	+	2	0	C10orf96	118074563	0.993000	0.37304	0.585000	0.28666	0.060000	0.15804	4.045000	0.57368	2.525000	0.85131	0.655000	0.94253	GCG		0.512	CCDC172-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050516.2	NM_198515		14	42	0	0	0	1	0	14	42				
LIPG	9388	broad.mit.edu	37	18	47113116	47113116	+	Splice_Site	SNP	A	A	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:47113116A>G	ENST00000261292.4	+	9	1655	c.1377A>G	c.(1375-1377)aaA>aaG	p.K459K	LIPG_ENST00000427224.2_Splice_Site_p.K385K	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	459	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCCCTCCTAGACTGACATTTT	0.507																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.e9-1		lipase, endothelial							89.0	88.0	88.0					18																	47113116		2203	4300	6503	SO:0001630	splice_region_variant	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47113116A>G	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1377-1A>G	18.37:g.47113116A>G						LIPG_ENST00000427224.2_Splice_Site_p.K385_splice	p.K459_splice	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			9	1655	+			459			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Splice_Site	SNP	ENST00000261292.4	37	c.1376_splice	CCDS11938.1																																																																																				0.507	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033	Silent	7	39	0	0	0	1	0	7	39				
USH2A	7399	broad.mit.edu	37	1	216221935	216221935	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:216221935C>A	ENST00000307340.3	-	31	6490	c.6104G>T	c.(6103-6105)tGc>tTc	p.C2035F	USH2A_ENST00000366943.2_Missense_Mutation_p.C2035F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2035	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCCAAAGTGCAAGCAGTTAG	0.413										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6103-6105)tGc>tTc		Usher syndrome 2A (autosomal recessive, mild)							201.0	195.0	197.0					1																	216221935		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216221935C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6104G>T	1.37:g.216221935C>A	ENSP00000305941:p.Cys2035Phe	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.C2035F	p.C2035F			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	31	6490	-			2035			Fibronectin type-III 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6104G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719742	0.68844	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56275	0.47;0.47	6.16	6.16	0.99307	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000150	T	0.73140	0.3549	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64445	-0.6406	10	0.18710	T	0.47	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	2035	O75445	USH2A_HUMAN	F	2035	ENSP00000305941:C2035F;ENSP00000355910:C2035F	ENSP00000305941:C2035F	C	-	2	0	USH2A	214288558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.197000	0.72100	2.937000	0.99478	0.650000	0.86243	TGC		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		24	113	1	0	6.12954e-19	1	6.61859e-19	24	113				
CHSY1	22856	broad.mit.edu	37	15	101718821	101718821	+	Missense_Mutation	SNP	C	C	T	rs143549949		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:101718821C>T	ENST00000254190.3	-	3	1656	c.1181G>A	c.(1180-1182)cGa>cAa	p.R394Q	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	394					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATTCCTCTTCGAGGGGGCTG	0.542																																						ENST00000254190.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24						c.(1180-1182)cGa>cAa		chondroitin sulfate synthase 1		C	GLN/ARG	0,4406		0,0,2203	67.0	69.0	69.0		1181	5.5	0.4	15	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHSY1	NM_014918.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	394/803	101718821	1,13005	2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101718821C>T	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1181G>A	15.37:g.101718821C>T	ENSP00000254190:p.Arg394Gln					CHSY1_ENST00000543813.1_5'UTR	p.R394Q	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	1656	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		394					Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.1181G>A	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312099	0.81358	0.0	1.16E-4	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.17370	2.28	5.46	5.46	0.80206	.	0.067348	0.56097	D	0.000024	T	0.31670	0.0804	M	0.83603	2.65	0.80722	D	1	P	0.47962	0.903	B	0.43155	0.41	T	0.32322	-0.9911	10	0.66056	D	0.02	-20.2446	19.3227	0.94248	0.0:1.0:0.0:0.0	.	394	Q86X52	CHSS1_HUMAN	Q	394;122	ENSP00000254190:R394Q	ENSP00000254190:R394Q	R	-	2	0	CHSY1	99536344	1.000000	0.71417	0.424000	0.26647	0.970000	0.65996	5.879000	0.69690	2.557000	0.86248	0.655000	0.94253	CGA		0.542	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		22	72	0	0	0	1	0	22	72				
USP51	158880	broad.mit.edu	37	X	55514102	55514102	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:55514102G>T	ENST00000500968.3	-	2	1353	c.1271C>A	c.(1270-1272)aCt>aAt	p.T424N	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	424	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AATGTGAGGAGTTCGGCTCCC	0.448																																						ENST00000500968.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1270-1272)aCt>aAt		ubiquitin specific peptidase 51							74.0	66.0	69.0					X																	55514102		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514102G>T	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1271C>A	X.37:g.55514102G>T	ENSP00000423333:p.Thr424Asn					USP51_ENST00000586165.1_5'UTR	p.T424N	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN			2	1353	-			424					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.1271C>A	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	10.82	1.458356	0.26248	.	.	ENSG00000247746	ENST00000500968	T	0.02763	4.17	3.04	2.11	0.27256	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.124363	0.56097	U	0.000030	T	0.02929	0.0087	L	0.39326	1.205	0.28121	N	0.930602	B	0.26708	0.157	B	0.25987	0.065	T	0.34800	-0.9814	10	0.33141	T	0.24	.	9.1372	0.36881	0.0:0.2222:0.7778:0.0	.	424	Q70EK9	UBP51_HUMAN	N	424	ENSP00000423333:T424N	ENSP00000423333:T424N	T	-	2	0	USP51	55530827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.884000	0.69729	0.638000	0.30545	0.508000	0.49915	ACT		0.448	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		15	53	1	0	1.15088e-07	1	1.19198e-07	15	53				
PLEC	5339	broad.mit.edu	37	8	144992883	144992883	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:144992883C>G	ENST00000322810.4	-	32	11686	c.11517G>C	c.(11515-11517)caG>caC	p.Q3839H	PLEC_ENST00000354958.2_Missense_Mutation_p.Q3680H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3725H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q3688H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q3729H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3702H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q3702H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3706H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q3670H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3839	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCTCAGTGTCTGCCTGGAAC	0.662																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11515-11517)caG>caC		plectin							22.0	28.0	26.0					8																	144992883		1966	4138	6104	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992883C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11517G>C	8.37:g.144992883C>G	ENSP00000323856:p.Gln3839His					PLEC_ENST00000398774.2_Missense_Mutation_p.Q3670H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q3680H|PLEC_ENST00000345136.3_Missense_Mutation_p.Q3702H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3702H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3706H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3725H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q3729H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q3688H	p.Q3839H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11686	-			3839			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11517G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	7.110	0.575903	0.13623	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	3.8	3.8	0.43715	.	0.365789	0.20950	U	0.082772	T	0.73345	0.3575	L	0.38175	1.15	0.37416	D	0.913437	P;P;P;P;P;P;P;P	0.48998	0.899;0.899;0.899;0.918;0.899;0.899;0.899;0.899	P;P;P;P;P;P;P;P	0.54460	0.639;0.639;0.639;0.753;0.639;0.639;0.639;0.639	T	0.78099	-0.2336	10	0.72032	D	0.01	.	9.6874	0.40107	0.0:0.9005:0.0:0.0995	.	3729;3688;3680;3839;3670;3702;3706;3702	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	3702;3706;3702;3670;3839;3680;3688;3729;3725	ENSP00000344848:Q3702H;ENSP00000350277:Q3706H;ENSP00000346602:Q3702H;ENSP00000381756:Q3670H;ENSP00000323856:Q3839H;ENSP00000347044:Q3680H;ENSP00000348702:Q3688H;ENSP00000388180:Q3729H;ENSP00000434583:Q3725H	ENSP00000323856:Q3839H	Q	-	3	2	PLEC	145064871	1.000000	0.71417	0.997000	0.53966	0.585000	0.36419	1.011000	0.29911	2.110000	0.64415	0.448000	0.29417	CAG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	43	0	0	0	1	0	3	43				
NLRP1	22861	broad.mit.edu	37	17	5461801	5461801	+	Missense_Mutation	SNP	C	C	T	rs373530609	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:5461801C>T	ENST00000572272.1	-	4	2214	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	NLRP1_ENST00000345221.3_Missense_Mutation_p.E739K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E739K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E739K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.E739K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E739K			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	739					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.E739K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCATTTCTTCGAAATGGGCC	0.512													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21831	0.001		0.0	False		,,,				2504	0.0					ENST00000345221.3																			1	Substitution - Missense(1)	p.E739K(1)	skin(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2215-2217)Gaa>Aaa		NLR family, pyrin domain containing 1		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	84.0	85.0	85.0		2215,2215,2215,2215,2215	1.8	0.0	17		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	56,56,56,56,56	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign	739/1376,739/1430,739/1474,739/1444,739/1400	5461801	2,13004	2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5461801C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2215G>A	17.37:g.5461801C>T	ENSP00000460475:p.Glu739Lys					NLRP1_ENST00000262467.5_Missense_Mutation_p.E739K|NLRP1_ENST00000577119.1_Missense_Mutation_p.E739K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.E739K|NLRP1_ENST00000572272.1_Missense_Mutation_p.E739K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E739K	p.E739K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2769	-		Colorectal(1115;3.48e-05)	739					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2215G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.286528	0.23478	2.27E-4	1.16E-4	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	3.8	1.81	0.25067	.	1.502820	0.04382	N	0.361034	T	0.26484	0.0647	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.32071	0.048;0.123;0.123;0.044;0.355;0.242	B;B;B;B;B;B	0.24006	0.017;0.021;0.021;0.014;0.05;0.023	T	0.22906	-1.0203	10	0.52906	T	0.07	.	5.4489	0.16552	0.1118:0.2072:0.6809:0.0	.	5;739;739;739;739;739	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	K	739;739;739;739;739;5	ENSP00000442029:E739K;ENSP00000262467:E739K;ENSP00000269280:E739K;ENSP00000346390:E739K;ENSP00000324366:E739K	ENSP00000262467:E739K	E	-	1	0	NLRP1	5402525	0.002000	0.14202	0.005000	0.12908	0.041000	0.13682	0.063000	0.14410	0.601000	0.29879	-0.146000	0.13790	GAA		0.512	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		21	93	0	0	0	1	0	21	93				
XCL1	6375	broad.mit.edu	37	1	168545890	168545890	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:168545890C>T	ENST00000367818.3	+	1	180	c.15C>T	c.(13-15)atC>atT	p.I5I		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	5					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GACTTCTCATCCTGGCCCTCC	0.537																																						ENST00000367818.3																			0				kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10						c.(13-15)atC>atT		chemokine (C motif) ligand 1							136.0	115.0	122.0					1																	168545890		2203	4300	6503	SO:0001819	synonymous_variant	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168545890C>T	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.15C>T	1.37:g.168545890C>T							p.I5I	NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN			1	180	+	all_hematologic(923;0.208)		5					Q52MA8	Silent	SNP	ENST00000367818.3	37	c.15C>T	CCDS1274.1																																																																																				0.537	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		11	81	0	0	0	1	0	11	81				
SPIRE1	56907	broad.mit.edu	37	18	12452292	12452292	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:12452292G>A	ENST00000409402.4	-	16	2241	c.1974C>T	c.(1972-1974)ccC>ccT	p.P658P	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Silent_p.P524P|SPIRE1_ENST00000309836.5_Silent_p.P447P|SPIRE1_ENST00000410092.3_Silent_p.P644P	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGGCAGTGGAGGGTTTTTCTG	0.512																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(1972-1974)ccC>ccT		spire-type actin nucleation factor 1							64.0	59.0	61.0					18																	12452292		2203	4300	6503	SO:0001819	synonymous_variant	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12452292G>A	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1974C>T	18.37:g.12452292G>A						SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Silent_p.P644P|SPIRE1_ENST00000309836.5_Silent_p.P447P|SPIRE1_ENST00000453447.2_Silent_p.P524P	p.P658P	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			16	2241	-			658						Silent	SNP	ENST00000409402.4	37	c.1974C>T	CCDS45829.1																																																																																				0.512	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		9	44	0	0	0	1	0	9	44				
CCT4	10575	broad.mit.edu	37	2	62096646	62096646	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:62096646G>A	ENST00000394440.3	-	13	1830	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Silent_p.L482L|CCT4_ENST00000461540.2_5'UTR|CCT4_ENST00000538252.1_Silent_p.L456L|CCT4_ENST00000544185.1_Silent_p.L362L	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	512					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			GATACCAACAGAGGCTGGACA	0.418																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1534-1536)Ctg>Ttg		chaperonin containing TCP1, subunit 4 (delta)							90.0	87.0	88.0					2																	62096646		2203	4300	6503	SO:0001819	synonymous_variant	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62096646G>A		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1534C>T	2.37:g.62096646G>A						CCT4_ENST00000544185.1_Silent_p.L362L|CCT4_ENST00000544079.1_Silent_p.L482L|CCT4_ENST00000538252.1_Silent_p.L456L|CCT4_ENST00000461540.2_5'UTR|AC107081.5_ENST00000425779.1_RNA	p.L512L	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		13	1830	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		512					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Silent	SNP	ENST00000394440.3	37	c.1534C>T	CCDS33206.1																																																																																				0.418	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			11	60	0	0	0	1	0	11	60				
PLCG2	5336	broad.mit.edu	37	16	81971422	81971422	+	Silent	SNP	C	C	T	rs200813182	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:81971422C>T	ENST00000359376.3	+	28	3326	c.3112C>T	c.(3112-3114)Ctg>Ttg	p.L1038L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1038	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGGCTACGTTCTGCAGCCTGA	0.522													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20759	0.0		0.001	False		,,,				2504	0.0					ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3112-3114)Ctg>Ttg		phospholipase C, gamma 2 (phosphatidylinositol-specific)		C		3,4267		0,3,2132	106.0	104.0	105.0		3112	4.5	1.0	16		105	5,8497		0,5,4246	no	coding-synonymous	PLCG2	NM_002661.3		0,8,6378	TT,TC,CC		0.0588,0.0703,0.0626		1038/1266	81971422	8,12764	2135	4251	6386	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81971422C>T		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3112C>T	16.37:g.81971422C>T							p.L1038L	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			28	3326	+			1038			PI-PLC Y-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.3112C>T	CCDS42204.1																																																																																				0.522	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			19	73	0	0	0	1	0	19	73				
EXTL1	2134	broad.mit.edu	37	1	26355755	26355755	+	Missense_Mutation	SNP	C	C	T	rs147835535		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:26355755C>T	ENST00000374280.3	+	2	1718	c.851C>T	c.(850-852)tCg>tTg	p.S284L	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	284					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.S284L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCTGCCTCGCGCTTCCTC	0.632																																						ENST00000374280.3																			1	Substitution - Missense(1)	p.S284L(1)	lung(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(850-852)tCg>tTg		exostosin-like glycosyltransferase 1							93.0	87.0	89.0					1																	26355755		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26355755C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.851C>T	1.37:g.26355755C>T	ENSP00000363398:p.Ser284Leu					EXTL1_ENST00000484339.1_3'UTR	p.S284L	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	2	1718	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	284					Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.851C>T	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955414	0.34471	.	.	ENSG00000158008	ENST00000374280	D	0.97642	-4.47	3.91	-7.83	0.01201	.	0.773944	0.11574	N	0.550445	D	0.88347	0.6412	N	0.13098	0.295	0.19300	N	0.999973	B	0.06786	0.001	B	0.06405	0.002	T	0.80094	-0.1526	10	0.16420	T	0.52	0.1042	5.779	0.18295	0.0:0.3238:0.2444:0.4318	.	284	Q92935	EXTL1_HUMAN	L	284	ENSP00000363398:S284L	ENSP00000363398:S284L	S	+	2	0	EXTL1	26228342	0.025000	0.19082	0.000000	0.03702	0.013000	0.08279	0.150000	0.16263	-1.808000	0.01234	-1.986000	0.00452	TCG		0.632	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		16	83	0	0	0	1	0	16	83				
STX12	23673	broad.mit.edu	37	1	28148834	28148834	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:28148834G>A	ENST00000373943.4	+	9	950	c.825G>A	c.(823-825)acG>acA	p.T275T	RP3-426I6.6_ENST00000602843.1_RNA|RNU6-1245P_ENST00000411130.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	275					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TTTATAAAACGAAGTGATTGC	0.418																																					Ovarian(5;5 342 2097 9488 34083)	ENST00000373943.4																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8						c.(823-825)acG>acA		syntaxin 12							143.0	136.0	138.0					1																	28148834		2203	4300	6503	SO:0001819	synonymous_variant	23673				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	g.chr1:28148834G>A	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.825G>A	1.37:g.28148834G>A							p.T275T	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)	9	950	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	275					B1AJQ7|O95564	Silent	SNP	ENST00000373943.4	37	c.825G>A	CCDS310.1																																																																																				0.418	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1	NM_177424		10	93	0	0	0	1	0	10	93				
SCN1A	6323	broad.mit.edu	37	2	166929997	166929997	+	Silent	SNP	G	G	A	rs201985242		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:166929997G>A	ENST00000303395.4	-	1	134	c.135C>T	c.(133-135)gaC>gaT	p.D45D	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.D45D|SCN1A_ENST00000375405.3_Silent_p.D45D|SCN1A_ENST00000423058.2_Silent_p.D45D			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	45					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.D45D(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCCATTTTCGTCGTCATCTT	0.448																																						ENST00000423058.2																			2	Substitution - coding silent(2)	p.D45D(2)	lung(2)	NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(133-135)gaC>gaT		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	G	,,,	1,4405	2.1+/-5.4	0,1,2202	276.0	263.0	267.0		135,135,135,135	-5.1	0.9	2		267	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	45/2010,45/1982,45/2010,45/1999	166929997	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166929997G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.135C>T	2.37:g.166929997G>A						SCN1A_ENST00000409050.1_Silent_p.D45D|SCN1A_ENST00000303395.4_Silent_p.D45D|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.D45D	p.D45D	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			1	152	-			45					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.135C>T	CCDS54413.1																																																																																				0.448	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		29	158	0	0	0	1	0	29	158				
TMC3	342125	broad.mit.edu	37	15	81636335	81636335	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:81636335G>C	ENST00000359440.5	-	14	1705	c.1570C>G	c.(1570-1572)Ctg>Gtg	p.L524V	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.L525V|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCTATGAGCAGAATGCTCGCC	0.512																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1573-1575)Ctg>Gtg		transmembrane channel-like 3							73.0	73.0	73.0					15																	81636335		2070	4205	6275	SO:0001583	missense	342125					integral to membrane		g.chr15:81636335G>C	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1570C>G	15.37:g.81636335G>C	ENSP00000352413:p.Leu524Val					TMC3_ENST00000359440.5_Missense_Mutation_p.L524V|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA	p.L525V			Q7Z5M5	TMC3_HUMAN			14	1708	-			524						Missense_Mutation	SNP	ENST00000359440.5	37	c.1573C>G	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923297	0.73213	.	.	ENSG00000188869	ENST00000359440	T	0.65732	-0.17	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000003	T	0.78515	0.4295	M	0.69523	2.12	0.51767	D	0.999934	D;D	0.64830	0.994;0.967	D;D	0.64687	0.925;0.928	T	0.80520	-0.1346	10	0.87932	D	0	-17.3744	19.3572	0.94420	0.0:0.0:1.0:0.0	.	524;524	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	V	524	ENSP00000352413:L524V	ENSP00000352413:L524V	L	-	1	2	TMC3	79423390	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	2.729000	0.47327	2.552000	0.86080	0.585000	0.79938	CTG		0.512	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		9	35	0	0	0	1	0	9	35				
SUCO	51430	broad.mit.edu	37	1	172546684	172546684	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:172546684C>T	ENST00000263688.3	+	12	1488	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	SUCO_ENST00000367723.4_Intron|SUCO_ENST00000608151.1_Intron|SUCO_ENST00000610051.1_Silent_p.F386F	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	423	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TTCAGATGTTCATCAAGTACA	0.303																																						ENST00000263688.3																			0											c.(1267-1269)ttC>ttT		SUN domain containing ossification factor							74.0	76.0	75.0					1																	172546684		2203	4297	6500	SO:0001819	synonymous_variant	51430							g.chr1:172546684C>T	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1269C>T	1.37:g.172546684C>T						SUCO_ENST00000367723.3_Intron	p.F423F	NM_014283.3	NP_055098.1					12	1488	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.1269C>T	CCDS1303.1																																																																																				0.303	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		4	35	0	0	0	1	0	4	35				
SMEK2	57223	broad.mit.edu	37	2	55804493	55804493	+	Splice_Site	SNP	C	C	T	rs528965102		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:55804493C>T	ENST00000345102.5	-	11	1866		c.e11-1		SMEK2_ENST00000407823.3_Splice_Site|SMEK2_ENST00000272313.5_Splice_Site	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)						positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACtatattatctaataaaaaa	0.234																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.e10-1		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							15.0	16.0	16.0					2																	55804493		2147	4229	6376	SO:0001630	splice_region_variant	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55804493C>T	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1565-1G>A	2.37:g.55804493C>T						SMEK2_ENST00000345102.5_Splice_Site|SMEK2_ENST00000407823.3_Splice_Site		NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		10	1796	-								Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Splice_Site	SNP	ENST00000345102.5	37		CCDS46289.1																																																																																				0.234	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463	Intron	5	14	0	0	0	1	0	5	14				
OSBPL1A	114876	broad.mit.edu	37	18	21892035	21892035	+	Silent	SNP	G	G	A	rs542892857		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:21892035G>A	ENST00000319481.3	-	13	1211	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	OSBPL1A_ENST00000357041.4_5'Flank	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	335					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					AGTGAGTGCTGTAAGCAGAAT	0.393																																						ENST00000319481.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1003-1005)taC>taT		oxysterol binding protein-like 1A							156.0	145.0	149.0					18																	21892035		2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21892035G>A	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.1005C>T	18.37:g.21892035G>A							p.Y335Y	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN			13	1211	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		335					B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.1005C>T	CCDS11884.1																																																																																				0.393	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		32	110	0	0	0	1	0	32	110				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	54	0	0	0	1	0	4	54				
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388																																						ENST00000304338.3																			1	Substitution - Missense(1)	p.T89M(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						c.(265-267)aCg>aTg		protein phosphatase 4, regulatory subunit 4							76.0	74.0	75.0					14																	94674875		2203	4300	6503	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94674875C>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.266C>T	14.37:g.94674875C>T	ENSP00000305924:p.Thr89Met					PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M	p.T89M	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN			3	420	+			89					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.266C>T	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238065	0.79800	.	.	ENSG00000119698	ENST00000556884;ENST00000304338;ENST00000328839;ENST00000553661;ENST00000556470	T;T	0.33865	1.39;1.44	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.67953	2.075	0.44807	D	0.997817	D;D	0.89917	0.999;1.0	D;D	0.85130	0.967;0.997	T	0.61983	-0.6950	10	0.72032	D	0.01	-13.2975	16.6795	0.85288	0.0:1.0:0.0:0.0	.	89;89	Q6NUP7;Q6NUP7-2	PP4R4_HUMAN;.	M	8;89;89;8;8	ENSP00000305924:T89M;ENSP00000451556:T8M	ENSP00000305924:T89M	T	+	2	0	PPP4R4	93744628	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.231000	0.72307	2.548000	0.85928	0.491000	0.48974	ACG		0.388	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		9	25	0	0	0	1	0	9	25				
MUC6	4588	broad.mit.edu	37	11	1028778	1028778	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:1028778T>A	ENST00000421673.2	-	13	1509	c.1459A>T	c.(1459-1461)Atc>Ttc	p.I487F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	487	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGACCGTGATGTTGCCTGCA	0.672																																						ENST00000421673.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1459-1461)Atc>Ttc		mucin 6, oligomeric mucus/gel-forming							49.0	54.0	52.0					11																	1028778		2115	4220	6335	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1028778T>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1459A>T	11.37:g.1028778T>A	ENSP00000406861:p.Ile487Phe						p.I487F	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1509	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	487			VWFD 2.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.1459A>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.475491	0.43942	.	.	ENSG00000184956	ENST00000421673	T	0.58797	0.31	4.34	3.21	0.36854	von Willebrand factor, type D domain (3);	0.000000	0.31347	U	0.007809	T	0.63534	0.2519	L	0.45352	1.415	0.36099	D	0.844019	D	0.89917	1.0	D	0.77557	0.99	T	0.66101	-0.6007	10	0.38643	T	0.18	.	7.7978	0.29158	0.0:0.0975:0.0:0.9025	.	487	Q6W4X9	MUC6_HUMAN	F	487	ENSP00000406861:I487F	ENSP00000406861:I487F	I	-	1	0	MUC6	1018778	0.998000	0.40836	1.000000	0.80357	0.666000	0.39218	0.650000	0.24858	0.657000	0.30906	0.260000	0.18958	ATC		0.672	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		9	54	0	0	0	1	0	9	54				
LETM1	3954	broad.mit.edu	37	4	1823941	1823941	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:1823941C>G	ENST00000302787.2	-	10	1871	c.1575G>C	c.(1573-1575)ttG>ttC	p.L525F		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	525					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.L525L(1)		breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CAGTGTCCTTCAAGGTCTCTG	0.602																																						ENST00000302787.2																			1	Substitution - coding silent(1)	p.L525L(1)	lung(1)	breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1573-1575)ttG>ttC		leucine zipper-EF-hand containing transmembrane protein 1							83.0	76.0	78.0					4																	1823941		2203	4300	6503	SO:0001583	missense	3954				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr4:1823941C>G	AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1575G>C	4.37:g.1823941C>G	ENSP00000305653:p.Leu525Phe						p.L525F	NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)		10	1871	-			525					B4DED2|Q9UF65	Missense_Mutation	SNP	ENST00000302787.2	37	c.1575G>C	CCDS3355.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207059	0.58343	.	.	ENSG00000168924	ENST00000302787	.	.	.	4.48	2.58	0.30949	.	0.178979	0.38272	N	0.001753	T	0.52757	0.1754	M	0.73217	2.22	0.45515	D	0.998471	D	0.57257	0.979	P	0.48425	0.577	T	0.53968	-0.8363	9	0.54805	T	0.06	-7.6472	5.6356	0.17534	0.1568:0.6637:0.0:0.1795	.	525	O95202	LETM1_HUMAN	F	525	.	ENSP00000305653:L525F	L	-	3	2	LETM1	1793739	0.985000	0.35326	0.689000	0.30133	0.879000	0.50718	0.497000	0.22514	0.995000	0.38917	0.555000	0.69702	TTG		0.602	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241634.1			16	43	0	0	0	1	0	16	43				
BAI3	577	broad.mit.edu	37	6	69728363	69728363	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:69728363G>T	ENST00000370598.1	+	13	2900	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	693					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGACTTTCAGAATTCATACT	0.323																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2077-2079)caG>caT		brain-specific angiogenesis inhibitor 3							128.0	134.0	132.0					6																	69728363		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69728363G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2079G>T	6.37:g.69728363G>T	ENSP00000359630:p.Gln693His						p.Q693H	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			13	2900	+		all_lung(197;0.212)	693					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2079G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412647	0.42817	.	.	ENSG00000135298	ENST00000370598	T	0.10099	2.91	6.08	5.2	0.72013	Domain of unknown function DUF3497 (1);	0.143577	0.48767	D	0.000173	T	0.03959	0.0111	L	0.35341	1.055	0.80722	D	1	B	0.15719	0.014	B	0.16289	0.015	T	0.16571	-1.0398	10	0.52906	T	0.07	.	10.6717	0.45762	0.1462:0.0:0.8538:0.0	.	693	O60242	BAI3_HUMAN	H	693	ENSP00000359630:Q693H	ENSP00000359630:Q693H	Q	+	3	2	BAI3	69785084	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.324000	0.52022	1.557000	0.49525	0.591000	0.81541	CAG		0.323	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			11	81	1	0	1.08611e-07	1	1.13649e-07	11	81				
DIO2	1734	broad.mit.edu	37	14	80669361	80669361	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:80669361G>A	ENST00000557010.1	-	4	878	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	DIO2_ENST00000555750.1_Missense_Mutation_p.H201Y|DIO2_ENST00000438257.4_Missense_Mutation_p.H165Y|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_Silent_p.L39L	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	165					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCTGATGGATGAGCCTCATCA	0.552											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000557010.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25						c.(493-495)Cat>Tat		deiodinase, iodothyronine, type II							59.0	62.0	61.0					14																	80669361		2080	4212	6292	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669361G>A	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557010.1:c.493C>T	14.37:g.80669361G>A	ENSP00000451419:p.His165Tyr		OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_ENST00000555750.1_Missense_Mutation_p.H201Y|DIO2_ENST00000557125.1_Silent_p.L39L|DIO2_ENST00000438257.4_Missense_Mutation_p.H165Y|DIO2_ENST00000422005.3_3'UTR	p.H165Y	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	878	-			165					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	ENST00000557010.1	37	c.493C>T	CCDS45146.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404319	0.83230	.	.	ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750	T;T;T	0.47528	0.84;0.84;0.84	5.67	5.67	0.87782	Thioredoxin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.77824	0.4188	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.82845	-0.0256	10	0.87932	D	0	.	19.7712	0.96366	0.0:0.0:1.0:0.0	.	201;165;201	Q92813-2;Q92813;G3V315	.;IOD2_HUMAN;.	Y	165;165;201	ENSP00000405854:H165Y;ENSP00000451419:H165Y;ENSP00000450980:H201Y	ENSP00000405854:H165Y	H	-	1	0	DIO2	79739114	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.624000	0.98398	2.677000	0.91161	0.585000	0.79938	CAT		0.552	DIO2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000413428.2			13	43	0	0	0	1	0	13	43				
GFAP	2670	broad.mit.edu	37	17	42988769	42988769	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:42988769G>A	ENST00000253408.5	-	6	1027	c.962C>T	c.(961-963)gCg>gTg	p.A321V	GFAP_ENST00000586793.1_Missense_Mutation_p.A321V|GFAP_ENST00000435360.2_Missense_Mutation_p.A321V|GFAP_ENST00000591327.1_5'Flank|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	321	Coil 2B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ATAACTGGCCGCCTCCCGCAC	0.682																																						ENST00000253408.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(961-963)gCg>gTg		glial fibrillary acidic protein							40.0	40.0	40.0					17																	42988769		2203	4300	6503	SO:0001583	missense	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42988769G>A	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.962C>T	17.37:g.42988769G>A	ENSP00000253408:p.Ala321Val					GFAP_ENST00000435360.2_Missense_Mutation_p.A321V|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.A321V	p.A321V	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN			6	1027	-		Prostate(33;0.0959)	321			Coil 2B.|Rod.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	ENST00000253408.5	37	c.962C>T	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.310987	0.23821	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.95788	-3.81;-3.81	4.1	1.94	0.25998	Filament (1);	0.272209	0.36303	N	0.002662	D	0.83376	0.5241	N	0.04724	-0.175	0.23249	N	0.998047	B;P	0.42010	0.008;0.768	B;B	0.35353	0.005;0.201	T	0.79999	-0.1566	10	0.05436	T	0.98	.	9.8796	0.41225	0.1848:0.0:0.8152:0.0	.	321;321	E9PAX3;P14136	.;GFAP_HUMAN	V	321;296;321	ENSP00000253408:A321V;ENSP00000403962:A321V	ENSP00000253408:A321V	A	-	2	0	GFAP	40344295	0.857000	0.29778	0.598000	0.28837	0.013000	0.08279	1.835000	0.39181	0.596000	0.29794	0.650000	0.86243	GCG		0.682	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		25	52	0	0	0	1	0	25	52				
ADD1	118	broad.mit.edu	37	4	2900000	2900000	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:2900000G>A	ENST00000398129.1	+	6	851	c.831G>A	c.(829-831)ctG>ctA	p.L277L	ADD1_ENST00000446856.1_Silent_p.L277L|ADD1_ENST00000398125.1_Silent_p.L277L|ADD1_ENST00000355842.3_Silent_p.L277L|ADD1_ENST00000513328.2_Silent_p.L277L|ADD1_ENST00000264758.7_Silent_p.L277L|ADD1_ENST00000398123.2_Silent_p.L277L|ADD1_ENST00000503455.2_Silent_p.L277L			P35611	ADDA_HUMAN	adducin 1 (alpha)	277					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGGCATTCTGGTTGATGAAG	0.438																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000355842.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(829-831)ctG>ctA		adducin 1 (alpha)							82.0	85.0	84.0					4																	2900000		2203	4300	6503	SO:0001819	synonymous_variant	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2900000G>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.831G>A	4.37:g.2900000G>A						ADD1_ENST00000264758.7_Silent_p.L277L|ADD1_ENST00000513328.2_Silent_p.L277L|ADD1_ENST00000398123.2_Silent_p.L277L|ADD1_ENST00000398129.1_Silent_p.L277L|ADD1_ENST00000503455.2_Silent_p.L277L|ADD1_ENST00000446856.1_Silent_p.L277L|ADD1_ENST00000398125.1_Silent_p.L277L	p.L277L			P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	8	1694	+			277					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Silent	SNP	ENST00000398129.1	37	c.831G>A	CCDS43205.1																																																																																				0.438	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		19	68	0	0	0	1	0	19	68				
DPH1	1801	broad.mit.edu	37	17	1936876	1936876	+	Missense_Mutation	SNP	C	C	T	rs566200844		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:1936876C>T	ENST00000263083.6	+	2	199	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	52					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCAGCAATCCGGGTCCTGCC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17617	0.0		0.0	False		,,,				2504	0.001					ENST00000263083.6																			0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(154-156)Cgg>Tgg		diphthamide biosynthesis 1							75.0	82.0	79.0					17																	1936876		1925	4113	6038	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1936876C>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.154C>T	17.37:g.1936876C>T	ENSP00000263083:p.Arg52Trp					DPH1_ENST00000570477.1_5'UTR	p.R52W	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN			2	199	+			52					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.154C>T	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404808	0.62288	.	.	ENSG00000108963	ENST00000263083	T	0.32515	1.45	5.52	4.53	0.55603	.	0.397790	0.26824	N	0.022313	T	0.30166	0.0756	L	0.52011	1.625	0.80722	D	1	P;P;D	0.56746	0.953;0.953;0.977	B;P;P	0.44860	0.339;0.462;0.462	T	0.08764	-1.0706	10	0.87932	D	0	-0.715	8.8544	0.35219	0.2986:0.5568:0.1447:0.0	.	62;62;52	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	W	52	ENSP00000263083:R52W	ENSP00000263083:R52W	R	+	1	2	DPH1	1883626	0.198000	0.23374	0.894000	0.35097	0.635000	0.38103	2.401000	0.44513	1.315000	0.45114	0.650000	0.86243	CGG		0.582	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		23	94	0	0	0	1	0	23	94				
HELB	92797	broad.mit.edu	37	12	66700187	66700187	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:66700187C>A	ENST00000247815.4	+	3	729	c.670C>A	c.(670-672)Ctt>Att	p.L224I		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	224					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CCTTCCAGTTCTTCTGCCTCG	0.358																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(670-672)Ctt>Att		helicase (DNA) B							119.0	121.0	120.0					12																	66700187		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66700187C>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.670C>A	12.37:g.66700187C>A	ENSP00000247815:p.Leu224Ile						p.L224I	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	3	729	+			224					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.670C>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.992365	0.74703	.	.	ENSG00000127311	ENST00000247815	T	0.33654	1.4	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.58395	0.2119	M	0.71581	2.175	0.39134	D	0.961901	D	0.89917	1.0	D	0.87578	0.998	T	0.59521	-0.7439	9	.	.	.	-25.5114	13.4611	0.61227	0.0:0.9288:0.0:0.0712	.	224	Q8NG08	HELB_HUMAN	I	224	ENSP00000247815:L224I	.	L	+	1	0	HELB	64986454	0.997000	0.39634	1.000000	0.80357	0.763000	0.43281	3.791000	0.55469	2.786000	0.95864	0.561000	0.74099	CTT		0.358	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			11	65	1	0	7.03913e-09	1	7.40385e-09	11	65				
CPB2	1361	broad.mit.edu	37	13	46641511	46641511	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr13:46641511G>A	ENST00000181383.4	-	7	649	c.633C>T	c.(631-633)ctC>ctT	p.L211L	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Intron	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	211					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CAAGCCTCAGGAGATTGGTAT	0.343																																						ENST00000181383.4																			0				NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(631-633)ctC>ctT		carboxypeptidase B2 (plasma)							101.0	102.0	102.0					13																	46641511		2203	4300	6503	SO:0001819	synonymous_variant	1361				blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr13:46641511G>A	M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.633C>T	13.37:g.46641511G>A						CPB2_ENST00000439329.3_Intron|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	p.L211L	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)	7	649	-		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	211					A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Silent	SNP	ENST00000181383.4	37	c.633C>T	CCDS9401.1																																																																																				0.343	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044803.2	NM_001872		9	46	0	0	0	1	0	9	46				
GALNT14	79623	broad.mit.edu	37	2	31181273	31181273	+	Silent	SNP	G	G	A	rs267599341		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:31181273G>A	ENST00000349752.5	-	4	1095	c.456C>T	c.(454-456)ttC>ttT	p.F152F	GALNT14_ENST00000406653.1_Silent_p.F132F|GALNT14_ENST00000420311.2_Silent_p.F117F|GALNT14_ENST00000486564.1_5'Flank|GALNT14_ENST00000324589.5_Silent_p.F157F|GALNT14_ENST00000356174.3_Silent_p.F119F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	152	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTCATTGCTGAAGTCATCCA	0.458																																						ENST00000349752.5																			0				cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43						c.(454-456)ttC>ttT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)							130.0	108.0	116.0					2																	31181273		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31181273G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.456C>T	2.37:g.31181273G>A						GALNT14_ENST00000356174.3_Silent_p.F119F|GALNT14_ENST00000324589.5_Silent_p.F157F|GALNT14_ENST00000406653.1_Silent_p.F132F|GALNT14_ENST00000420311.2_Silent_p.F117F	p.F152F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN			4	1095	-	Acute lymphoblastic leukemia(172;0.155)		152			Catalytic subdomain A.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.456C>T	CCDS1773.2																																																																																				0.458	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		16	45	0	0	0	1	0	16	45				
KRT36	8689	broad.mit.edu	37	17	39643396	39643396	+	Silent	SNP	G	G	T	rs141243083		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:39643396G>T	ENST00000328119.6	-	6	1013	c.1014C>A	c.(1012-1014)gcC>gcA	p.A338A	KRT36_ENST00000393986.2_Silent_p.A288A	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	338	Coil 2.|Rod.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CCTCGGTTTCGGCCAGGGTGG	0.622																																						ENST00000393986.2																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17						c.(862-864)gcC>gcA		keratin 36							58.0	61.0	60.0					17																	39643396		2203	4300	6503	SO:0001819	synonymous_variant	8689					intermediate filament	protein binding|structural constituent of epidermis	g.chr17:39643396G>T	Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.1014C>A	17.37:g.39643396G>T						KRT36_ENST00000328119.6_Silent_p.A338A	p.A288A			O76013	KRT36_HUMAN			7	1076	-		Breast(137;0.000286)	338			Coil 2.|Rod.		Q86XG4	Silent	SNP	ENST00000328119.6	37	c.864C>A	CCDS11395.1																																																																																				0.622	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259508.1	NM_003771		17	82	1	0	5.03518e-11	1	5.32366e-11	17	82				
PARP8	79668	broad.mit.edu	37	5	50090843	50090843	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr5:50090843T>G	ENST00000281631.5	+	12	1178	c.1020T>G	c.(1018-1020)ttT>ttG	p.F340L	PARP8_ENST00000514342.2_Missense_Mutation_p.F93L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.F340L|PARP8_ENST00000505554.1_Missense_Mutation_p.F319L|PARP8_ENST00000514067.2_Missense_Mutation_p.F340L|PARP8_ENST00000503750.2_Missense_Mutation_p.F340L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	340						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACAGGACCTTTGGCCGCTCCT	0.522																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1018-1020)ttT>ttG		poly (ADP-ribose) polymerase family, member 8							95.0	86.0	89.0					5																	50090843		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50090843T>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1020T>G	5.37:g.50090843T>G	ENSP00000281631:p.Phe340Leu					PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.F340L|PARP8_ENST00000514342.2_Missense_Mutation_p.F93L|PARP8_ENST00000505554.1_Missense_Mutation_p.F319L|PARP8_ENST00000505697.2_Missense_Mutation_p.F340L|PARP8_ENST00000514067.2_Missense_Mutation_p.F340L	p.F340L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			12	1178	+		Lung NSC(810;0.0305)|Breast(144;0.222)	340					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.1020T>G	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380564	0.42207	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.19	-2.63	0.06133	.	0.128349	0.53938	D	0.000050	T	0.18215	0.0437	N	0.02539	-0.55	0.43058	D	0.99467	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.06899	-1.0801	8	.	.	.	-15.2164	6.3498	0.21369	0.0:0.2886:0.1201:0.5913	.	232;340;340	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	L	340;340;93;340;340;319;93;93	.	.	F	+	3	2	PARP8	50126600	0.856000	0.29760	0.996000	0.52242	0.901000	0.52897	-0.271000	0.08572	-0.242000	0.09667	-0.256000	0.11100	TTT		0.522	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		3	103	0	0	0	1	0	3	103				
TRPM3	80036	broad.mit.edu	37	9	73254098	73254098	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:73254098C>T	ENST00000377111.2	-	11	1702	c.1459G>A	c.(1459-1461)Gag>Aag	p.E487K	TRPM3_ENST00000396292.4_Missense_Mutation_p.E359K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E359K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E514K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E489K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E334K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E359K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E359K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E334K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E334K|TRPM3_ENST00000377110.3_Missense_Mutation_p.E487K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E334K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	512					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGGCTTGCTCCAGAGATCCC	0.453																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1459-1461)Gag>Aag		transient receptor potential cation channel, subfamily M, member 3							116.0	106.0	109.0					9																	73254098		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73254098C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1459G>A	9.37:g.73254098C>T	ENSP00000366315:p.Glu487Lys					TRPM3_ENST00000396285.1_Missense_Mutation_p.E334K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E334K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E359K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E334K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E514K|TRPM3_ENST00000377111.2_Missense_Mutation_p.E487K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E359K|TRPM3_ENST00000358082.3_Missense_Mutation_p.E359K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E359K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E489K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E334K	p.E487K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			11	1702	-			512					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1459G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.338601|5.338601	0.95783|0.95783	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.55234|.	0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53;0.53|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84379|0.84379	0.5459|0.5459	M|M	0.87547|0.87547	2.89|2.89	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;P;D;D;D;D|.	0.89917|.	0.99;1.0;0.992;0.998;0.765;0.999;0.999;0.982;0.999|.	P;D;P;D;P;D;D;P;D|.	0.85130|.	0.883;0.994;0.877;0.997;0.517;0.987;0.997;0.749;0.978|.	D|D	0.85404|0.85404	0.1133|0.1133	10|5	0.56958|.	D|.	0.05|.	-25.2881|-25.2881	19.9522|19.9522	0.97203|0.97203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	512;487;487;487;489;359;334;487;334|.	Q9HCF6;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	TRPM3_HUMAN;.;.;.;.;.;.;.;.|.	K|E	487;487;359;359;334;489;334;334;359;359;514|333	ENSP00000366315:E487K;ENSP00000366314:E487K;ENSP00000366310:E359K;ENSP00000354066:E359K;ENSP00000366309:E334K;ENSP00000350140:E489K;ENSP00000386127:E334K;ENSP00000379581:E334K;ENSP00000379587:E359K;ENSP00000350791:E359K;ENSP00000389542:E514K|.	ENSP00000350140:E489K|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72443918|72443918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.725000|2.725000	0.93324|0.93324	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.453	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		23	72	0	0	0	1	0	23	72				
ELMSAN1	91748	broad.mit.edu	37	14	74196619	74196619	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:74196619C>T	ENST00000286523.5	-	4	2601	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E607K	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										ATGAGGGGCTCGGGCCTGGGC	0.612																																						ENST00000286523.5																			0											c.(1819-1821)Gag>Aag		ELM2 and Myb/SANT-like domain containing 1							48.0	48.0	48.0					14																	74196619		2203	4300	6503	SO:0001583	missense	91748							g.chr14:74196619C>T	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.1819G>A	14.37:g.74196619C>T	ENSP00000286523:p.Glu607Lys					ELMSAN1_ENST00000394071.2_Missense_Mutation_p.E607K	p.E607K	NM_194278.3	NP_919254.2					4	2601	-								Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	ENST00000286523.5	37	c.1819G>A	CCDS9819.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609151	0.87258	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000004	T	0.31136	0.0787	L	0.31664	0.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.943;0.967	T	0.01757	-1.1280	10	0.33940	T	0.23	-26.6367	19.1797	0.93617	0.0:1.0:0.0:0.0	.	607;607	A0PJD3;Q6PJG2	.;CN043_HUMAN	K	607	ENSP00000377634:E607K;ENSP00000286523:E607K;ENSP00000407767:E607K;ENSP00000402380:E607K	ENSP00000286523:E607K	E	-	1	0	C14orf43	73266372	1.000000	0.71417	0.965000	0.40720	0.522000	0.34438	7.762000	0.85270	2.511000	0.84671	0.579000	0.79373	GAG		0.612	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		15	45	0	0	0	1	0	15	45				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		6	15	0	0	0	1	0	6	15				
ARHGEF6	9459	broad.mit.edu	37	X	135764979	135764979	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:135764979A>C	ENST00000250617.6	-	13	2622	c.1417T>G	c.(1417-1419)Tta>Gta	p.L473V	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L319V|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L319V|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L346V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	473	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTTGAAAATAACATAAGGTAC	0.373																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1417-1419)Tta>Gta		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							112.0	97.0	102.0					X																	135764979		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135764979A>C	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1417T>G	X.37:g.135764979A>C	ENSP00000250617:p.Leu473Val					ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L319V|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L319V|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L346V	p.L473V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			13	2622	-	Acute lymphoblastic leukemia(192;0.000127)		473			PH.		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1417T>G	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	A	16.93	3.258883	0.59321	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.4	1.72	0.24424	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87458	0.6182	M	0.89478	3.035	0.58432	D	0.999999	P;P	0.51791	0.941;0.948	D;D	0.70716	0.97;0.95	D	0.85534	0.1211	10	0.72032	D	0.01	.	9.0853	0.36577	0.6953:0.0:0.3047:0.0	.	346;473	B7Z3C7;Q15052	.;ARHG6_HUMAN	V	473;319;319;319;346	ENSP00000250617:L473V;ENSP00000359654:L319V;ENSP00000359656:L319V;ENSP00000439483:L346V	ENSP00000250617:L473V	L	-	1	2	ARHGEF6	135592645	1.000000	0.71417	0.962000	0.40283	0.991000	0.79684	1.572000	0.36461	-0.036000	0.13669	0.486000	0.48141	TTA		0.373	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		20	78	0	0	0	1	0	20	78				
RRAGC	64121	broad.mit.edu	37	1	39305258	39305258	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:39305258C>T	ENST00000373001.3	-	7	1343	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CATTGTGTGTCAGCGCTTTCA	0.542																																						ENST00000373001.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(1165-1167)ctG>ctA		Ras-related GTP binding C							156.0	137.0	143.0					1																	39305258		2203	4300	6503	SO:0001819	synonymous_variant	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39305258C>T	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.1167G>A	1.37:g.39305258C>T						RRAGC_ENST00000474456.1_5'UTR	p.L389L	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN			7	1343	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	389						Silent	SNP	ENST00000373001.3	37	c.1167G>A	CCDS430.1																																																																																				0.542	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157		7	55	0	0	0	1	0	7	55				
TRDC	28526	broad.mit.edu	37	14	22935399	22935399	+	RNA	SNP	G	G	C	rs377405607		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:22935399G>C	ENST00000390477.2	+	0	720				AE000661.37_ENST00000514473.2_RNA|TRDV3_ENST00000535880.2_RNA|AE000661.37_ENST00000556777.1_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											GAACAGAAATGAGACCCCTAT	0.423																																						ENST00000514473.2																			0																				75.0	74.0	75.0					14																	22935399		1848	4091	5939			101929735							g.chr14:22935399G>C	M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22935399G>C						AE000661.37_ENST00000556777.1_RNA								0	225	-									RNA	SNP	ENST00000390477.2	37																																																																																						0.423	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000410936.1	NG_001332		11	33	0	0	0	1	0	11	33				
TUBBP1	92755	broad.mit.edu	37	8	30210627	30210627	+	RNA	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:30210627C>T	ENST00000518096.1	+	0	1239									tubulin, beta pseudogene 1																		TCACCTTCATCGGCAGTAGCA	0.552																																						ENST00000518096.1																			0																																																			92755							g.chr8:30210627C>T	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30210627C>T														0	1239	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.552	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		3	102	0	0	0	1	0	3	102				
ACVR2B	93	broad.mit.edu	37	3	38520710	38520710	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:38520710G>A	ENST00000352511.4	+	6	1230	c.758G>A	c.(757-759)cGa>cAa	p.R253Q		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCCGAGAAGCGAGGCTCCAAC	0.562																																						ENST00000352511.3																			0				lung(1)	1						c.(757-759)cGa>cAa		activin A receptor, type IIB							180.0	167.0	171.0					3																	38520710		2203	4300	6503	SO:0001583	missense	93				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38520710G>A	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.758G>A	3.37:g.38520710G>A	ENSP00000340361:p.Arg253Gln						p.R253Q	NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	6	1230	+	Medulloblastoma(35;0.163)		253			Protein kinase.		Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	c.758G>A	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182065	0.78677	.	.	ENSG00000114739	ENST00000352511	T	0.66099	-0.19	4.93	4.93	0.64822	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.118602	0.53938	D	0.000052	T	0.56485	0.1988	L	0.43757	1.38	0.52501	D	0.999954	D	0.61697	0.99	B	0.40636	0.335	T	0.63853	-0.6543	10	0.54805	T	0.06	.	18.3287	0.90261	0.0:0.0:1.0:0.0	.	253	Q13705	AVR2B_HUMAN	Q	253	ENSP00000340361:R253Q	ENSP00000340361:R253Q	R	+	2	0	ACVR2B	38495714	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.187000	0.72039	2.546000	0.85860	0.563000	0.77884	CGA		0.562	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		46	156	0	0	0	1	0	46	156				
IKBKB	3551	broad.mit.edu	37	8	42129621	42129621	+	Start_Codon_SNP	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr8:42129621G>A	ENST00000520810.1	+	2	189	c.3G>A	c.(1-3)atG>atA	p.M1I	IKBKB_ENST00000518983.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000519735.1_Start_Codon_SNP_p.M1I|RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000522147.1_Start_Codon_SNP_p.M1I|RP11-231D20.2_ENST00000523459.1_RNA|IKBKB_ENST00000416505.2_5'UTR|RP11-231D20.2_ENST00000518213.1_RNA|RP11-231D20.2_ENST00000518994.1_RNA	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	1					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ACATCAGTATGAGCTGGTCAC	0.473											OREG0018746	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(1-3)atG>atA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						114.0	113.0	114.0					8																	42129621		2203	4300	6503	SO:0001582	initiator_codon_variant	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|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 transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42129621G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.3G>A	8.37:g.42129621G>A	ENSP00000430684:p.Met1Ile		OREG0018746	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000522147.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000519735.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000518983.1_Start_Codon_SNP_p.M1I|IKBKB_ENST00000416505.2_5'UTR	p.M1I	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		2	189	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	1					B4DZ30|B4E0U4|O75327	Translation_Start_Site	SNP	ENST00000520810.1	37	c.3G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918443	0.92249	.	.	ENSG00000104365	ENST00000520810;ENST00000519735;ENST00000518983;ENST00000522147	T;T	0.73469	-0.75;-0.71	4.74	4.74	0.60224	Protein kinase-like domain (1);	0.091849	0.64402	D	0.000001	D	0.85182	0.5638	.	.	.	0.80722	D	1	P;D	0.65815	0.862;0.995	B;D	0.75020	0.445;0.985	D	0.87089	0.2171	9	0.87932	D	0	-36.8733	13.5792	0.61891	0.0:0.0:1.0:0.0	.	1;1	O14920;Q32ND9	IKKB_HUMAN;.	I	1	ENSP00000430684:M1I;ENSP00000430483:M1I	ENSP00000339151:M1I	M	+	3	0	IKBKB	42248778	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.100000	0.64560	2.335000	0.79485	0.655000	0.94253	ATG		0.473	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1		Missense_Mutation	18	64	0	0	0	1	0	18	64				
NCAPD3	23310	broad.mit.edu	37	11	134074047	134074047	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:134074047T>C	ENST00000534548.2	-	10	1173	c.1109A>G	c.(1108-1110)tAt>tGt	p.Y370C		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	370					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAAAGTACGATACTCTGATTT	0.428																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1108-1110)tAt>tGt		non-SMC condensin II complex, subunit D3							84.0	79.0	81.0					11																	134074047		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134074047T>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1109A>G	11.37:g.134074047T>C	ENSP00000433681:p.Tyr370Cys						p.Y370C	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	10	1173	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	370					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.1109A>G	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	19.81	3.896215	0.72639	.	.	ENSG00000151503	ENST00000534548	T	0.11821	2.74	5.65	5.65	0.86999	Armadillo-type fold (1);	0.177654	0.51477	D	0.000092	T	0.36166	0.0957	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.07520	-1.0768	10	0.66056	D	0.02	-17.4695	14.44	0.67309	0.0:0.0:0.0:1.0	.	370	P42695	CNDD3_HUMAN	C	370	ENSP00000433681:Y370C	ENSP00000431612:Y370C	Y	-	2	0	NCAPD3	133579257	1.000000	0.71417	0.979000	0.43373	0.988000	0.76386	6.149000	0.71795	2.150000	0.67090	0.533000	0.62120	TAT		0.428	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		20	28	0	0	0	1	0	20	28				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			440993							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	46	0	0	0	1	0	3	46				
C9orf40	55071	broad.mit.edu	37	9	77563059	77563059	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:77563059C>T	ENST00000376854.5	-	2	764	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	164										lung(2)|stomach(1)	3						TCTGCCAGATCAATAGGAGGC	0.423																																						ENST00000376854.5																			0				lung(2)|stomach(1)	3						c.(490-492)Gat>Aat		chromosome 9 open reading frame 40							137.0	122.0	127.0					9																	77563059		2203	4300	6503	SO:0001583	missense	55071							g.chr9:77563059C>T	AK000972	CCDS6648.1	9q21.31	2012-03-15			ENSG00000135045	ENSG00000135045			23433	protein-coding gene	gene with protein product							Standard	NM_017998		Approved	FLJ10110	uc004ajo.4	Q8IXQ3	OTTHUMG00000020031	ENST00000376854.5:c.490G>A	9.37:g.77563059C>T	ENSP00000366050:p.Asp164Asn						p.D164N	NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN			2	764	-			164					Q9NWD3	Missense_Mutation	SNP	ENST00000376854.5	37	c.490G>A	CCDS6648.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717424	0.89205	.	.	ENSG00000135045	ENST00000376854	.	.	.	5.98	5.98	0.97165	.	0.131035	0.34245	N	0.004138	T	0.76485	0.3994	M	0.63843	1.955	0.37746	D	0.925809	D	0.89917	1.0	D	0.71656	0.974	T	0.79160	-0.1918	9	0.62326	D	0.03	-12.0035	15.9435	0.79776	0.0:1.0:0.0:0.0	.	164	Q8IXQ3	CI040_HUMAN	N	164	.	ENSP00000366050:D164N	D	-	1	0	C9orf40	76752879	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.170000	0.31883	2.838000	0.97847	0.655000	0.94253	GAT		0.423	C9orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052702.1	NM_017998		22	66	0	0	0	1	0	22	66				
SPEN	23013	broad.mit.edu	37	1	16258246	16258246	+	Silent	SNP	G	G	A	rs374972567		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:16258246G>A	ENST00000375759.3	+	11	5715	c.5511G>A	c.(5509-5511)gaG>gaA	p.E1837E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1837					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)		GTATCGTGGAGAAGCCCGTCA	0.483																																						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.(5509-5511)gaG>gaA		spen family transcriptional repressor		G		1,4405	2.1+/-5.4	0,1,2202	61.0	62.0	62.0		5511	1.3	1.0	1		62	0,8600		0,0,4300	no	coding-synonymous	SPEN	NM_015001.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1837/3665	16258246	1,13005	2203	4300	6503	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.chr1:16258246G>A		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.5511G>A	1.37:g.16258246G>A							p.E1837E	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	5715	+		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)	1837					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.5511G>A	CCDS164.1																																																																																				0.483	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		5	63	0	0	0	1	0	5	63				
KRT75	9119	broad.mit.edu	37	12	52822220	52822220	+	Missense_Mutation	SNP	C	C	T	rs370991901		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:52822220C>T	ENST00000252245.5	-	7	1422	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	401	Coil 2.|Rod.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CAGTTCTCCCCGCTGCTCTGC	0.597																																						ENST00000252245.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28						c.(1201-1203)cGg>cAg		keratin 75							47.0	38.0	41.0					12																	52822220		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52822220C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.1202G>A	12.37:g.52822220C>T	ENSP00000252245:p.Arg401Gln					RP11-1020M18.10_ENST00000548135.1_RNA	p.R401Q	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	7	1422	-			401			Coil 2.|Rod.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.1202G>A	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514899	0.64634	.	.	ENSG00000170454	ENST00000252245	D	0.89875	-2.58	5.63	4.74	0.60224	Filament (1);	0.000000	0.56097	D	0.000040	D	0.92437	0.7599	M	0.72624	2.21	0.45690	D	0.998601	D	0.89917	1.0	D	0.80764	0.994	D	0.90239	0.4285	10	0.21014	T	0.42	.	11.0408	0.47829	0.0:0.8567:0.0:0.1433	.	401	O95678	K2C75_HUMAN	Q	401	ENSP00000252245:R401Q	ENSP00000252245:R401Q	R	-	2	0	KRT75	51108487	0.837000	0.29446	0.888000	0.34837	0.092000	0.18411	1.697000	0.37784	1.373000	0.46208	0.561000	0.74099	CGG		0.597	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1	NM_004693		9	36	0	0	0	1	0	9	36				
MCTP2	55784	broad.mit.edu	37	15	94910964	94910964	+	Silent	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:94910964C>T	ENST00000357742.4	+	10	1432	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	MCTP2_ENST00000331706.4_Silent_p.L66L|MCTP2_ENST00000557742.1_Silent_p.L66L|MCTP2_ENST00000451018.3_Silent_p.L478L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	478					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGTCTCTGATCTGTGTGTCTG	0.547																																						ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(1432-1434)Ctg>Ttg		multiple C2 domains, transmembrane 2							73.0	66.0	68.0					15																	94910964		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94910964C>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1432C>T	15.37:g.94910964C>T						MCTP2_ENST00000557742.1_Silent_p.L66L|MCTP2_ENST00000331706.4_Silent_p.L66L|MCTP2_ENST00000451018.3_Silent_p.L478L	p.L478L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		10	1432	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		478					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.1432C>T	CCDS32338.1																																																																																				0.547	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		17	51	0	0	0	1	0	17	51				
PRCC	5546	broad.mit.edu	37	1	156756563	156756563	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:156756563C>T	ENST00000271526.4	+	3	952	c.680C>T	c.(679-681)tCc>tTc	p.S227F	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.S227F	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	227					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)			PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCAAGACTTCCTCTCTTGCC	0.582			T	TFE3	papillary renal																																	ENST00000271526.4				Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal	PRCC/TFE3(25)	0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15						c.(679-681)tCc>tTc		papillary renal cell carcinoma (translocation-associated)							78.0	76.0	77.0					1																	156756563		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156756563C>T	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.680C>T	1.37:g.156756563C>T	ENSP00000271526:p.Ser227Phe					PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.S227F	p.S227F	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN			3	952	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		227					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.680C>T	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198190	0.58126	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201	T;T	0.42513	0.97;0.97	5.58	5.58	0.84498	.	0.274240	0.26328	N	0.025002	T	0.17408	0.0418	N	0.14661	0.345	0.09310	N	1	B;B	0.26258	0.145;0.145	B;B	0.31016	0.123;0.123	T	0.18524	-1.0334	10	0.59425	D	0.04	-6.743	16.2869	0.82725	0.0:1.0:0.0:0.0	.	227;227	A6NG79;Q92733	.;PRCC_HUMAN	F	227;227;171	ENSP00000271526:S227F;ENSP00000339300:S227F	ENSP00000271526:S227F	S	+	2	0	PRCC	155023187	0.043000	0.20138	0.899000	0.35326	0.986000	0.74619	2.308000	0.43690	2.623000	0.88846	0.591000	0.81541	TCC		0.582	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		21	79	0	0	0	1	0	21	79				
LCMT1	51451	broad.mit.edu	37	16	25182072	25182072	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:25182072C>T	ENST00000399069.3	+	9	985	c.830C>T	c.(829-831)tCg>tTg	p.S277L	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.S222L	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	277					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAAACAGCATCGGCCGTCGAC	0.493																																					Colon(200;565 2072 24396 47922 50898)	ENST00000399069.3																			0											c.(829-831)tCg>tTg		leucine carboxyl methyltransferase 1	L-Leucine(DB00149)						167.0	162.0	164.0					16																	25182072		1987	4161	6148	SO:0001583	missense	51451						protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	g.chr16:25182072C>T	AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.830C>T	16.37:g.25182072C>T	ENSP00000382021:p.Ser277Leu					LCMT1_ENST00000380966.4_Missense_Mutation_p.S222L|LCMT1_ENST00000572869.1_3'UTR	p.S277L	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN		GBM - Glioblastoma multiforme(48;0.0336)	9	985	+			277					A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	c.830C>T	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287587	0.23478	.	.	ENSG00000205629	ENST00000399069;ENST00000380966;ENST00000380962	T;T	0.22336	1.96;1.96	5.95	1.51	0.23008	.	0.913467	0.09520	N	0.791106	T	0.09862	0.0242	N	0.19112	0.55	0.09310	N	1	B;B	0.30361	0.267;0.277	B;B	0.28784	0.094;0.057	T	0.33904	-0.9850	10	0.10636	T	0.68	-8.6695	2.5037	0.04639	0.14:0.4312:0.2721:0.1567	.	222;277	Q9UIC8-3;Q9UIC8	.;LCMT1_HUMAN	L	277;222;294	ENSP00000382021:S277L;ENSP00000370353:S222L	ENSP00000370349:S294L	S	+	2	0	LCMT1	25089573	0.000000	0.05858	0.001000	0.08648	0.161000	0.22273	1.024000	0.30077	0.836000	0.34901	0.655000	0.94253	TCG		0.493	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4	NM_016309		19	78	0	0	0	1	0	19	78				
AHNAK	79026	broad.mit.edu	37	11	62289614	62289614	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:62289614G>C	ENST00000378024.4	-	5	12549	c.12275C>G	c.(12274-12276)tCa>tGa	p.S4092*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4092					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGGGTCCTGAGACATCAAT	0.458																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12274-12276)tCa>tGa		AHNAK nucleoprotein							140.0	147.0	144.0					11																	62289614		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62289614G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12275C>G	11.37:g.62289614G>C	ENSP00000367263:p.Ser4092*					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.S4092*	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	12549	-		Melanoma(852;0.155)	4092					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.12275C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	53	21.410930	0.99940	.	.	ENSG00000124942	ENST00000378024	.	.	.	3.89	3.89	0.44902	.	0.273134	0.25922	N	0.027422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	15.4749	0.75471	0.0:0.0:1.0:0.0	.	.	.	.	X	4092	.	ENSP00000367263:S4092X	S	-	2	0	AHNAK	62046190	0.001000	0.12720	0.992000	0.48379	0.734000	0.41952	0.923000	0.28757	1.725000	0.51514	0.387000	0.25754	TCA		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		52	195	0	0	0	1	0	52	195				
CCDC88C	440193	broad.mit.edu	37	14	91772193	91772193	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:91772193G>A	ENST00000389857.6	-	19	3359	c.3273C>T	c.(3271-3273)agC>agT	p.S1091S		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1091					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGATCTGGCTGCTGAAGGTCA	0.587																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(3271-3273)agC>agT		coiled-coil domain containing 88C							101.0	101.0	101.0					14																	91772193		2107	4244	6351	SO:0001819	synonymous_variant	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91772193G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.3273C>T	14.37:g.91772193G>A							p.S1091S	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			19	3359	-		all_cancers(154;0.0468)	1091					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Silent	SNP	ENST00000389857.6	37	c.3273C>T	CCDS45151.1																																																																																				0.587	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		16	25	0	0	0	1	0	16	25				
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:534289C>T	ENST00000451590.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000417302.1_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		95	Substitution - Missense(95)	p.G12S(58)|p.G12C(25)|p.G12R(12)	upper_aerodigestive_tract(33)|urinary_tract(15)|skin(11)|thyroid(10)|cervix(7)|soft_tissue(5)|salivary_gland(5)|pituitary(3)|large_intestine(2)|lung(1)|penis(1)|prostate(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053283|CM061797	HRAS	M	rs104894229	c.(34-36)Ggc>Agc		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						78.0	74.0	76.0					11																	534289		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534289C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.34G>A	11.37:g.534289C>T	ENSP00000407586:p.Gly12Ser	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S	p.G12S	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	221	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.34G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492705	0.64074	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	L	0.48935	1.535	0.80722	D	1	P;P	0.44281	0.797;0.831	B;P	0.44359	0.319;0.447	T	0.79598	-0.1737	10	0.72032	D	0.01	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	S	12	ENSP00000380722:G12S;ENSP00000380723:G12S;ENSP00000407586:G12S;ENSP00000388246:G12S;ENSP00000309845:G12S	ENSP00000309845:G12S	G	-	1	0	HRAS	524289	1.000000	0.71417	0.332000	0.25469	0.311000	0.27955	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		45	36	0	0	0	1	0	45	36				
DMBT1	1755	broad.mit.edu	37	10	124353105	124353105	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:124353105C>T	ENST00000338354.3	+	21	2627	c.2521C>T	c.(2521-2523)Ccc>Tcc	p.P841S	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.P831S|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.P841S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.P831S			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	841					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCGGCCGACACCCAGTCCAGG	0.517																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(2521-2523)Ccc>Tcc		deleted in malignant brain tumors 1							441.0	330.0	365.0					10																	124353105		1903	4076	5979	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124353105C>T		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2521C>T	10.37:g.124353105C>T	ENSP00000342210:p.Pro841Ser					DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.P831S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P831S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.P841S	p.P841S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			21	2627	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	841					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.2521C>T		.	.	.	.	.	.	.	.	.	.	C	0.003	-2.535778	0.00143	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.23950	1.89;1.88;1.89;1.88	1.93	-3.85	0.04243	.	.	.	.	.	T	0.10937	0.0267	N	0.19112	0.55	0.09310	N	1	B;B;B	0.21381	0.055;0.025;0.0	B;B;B	0.30251	0.113;0.007;0.001	T	0.28490	-1.0042	9	0.07644	T	0.81	.	0.3178	0.00298	0.3022:0.2863:0.1711:0.2404	.	841;831;841	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	S	841;841;841;841;841;841;831;841;831	ENSP00000342210:P841S;ENSP00000343175:P831S;ENSP00000357905:P841S;ENSP00000357951:P831S	ENSP00000342210:P841S	P	+	1	0	DMBT1	124343095	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.407000	0.01043	-3.762000	0.00110	-0.324000	0.08512	CCC		0.517	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		12	408	0	0	0	1	0	12	408				
SAMD7	344658	broad.mit.edu	37	3	169644929	169644929	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr3:169644929G>A	ENST00000428432.2	+	6	1268	c.879G>A	c.(877-879)aaG>aaA	p.K293K	SAMD7_ENST00000335556.3_Silent_p.K293K	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	293										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTGATGAAAAGAATGGGGTTT	0.547																																						ENST00000428432.2																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(877-879)aaG>aaA		sterile alpha motif domain containing 7							51.0	51.0	51.0					3																	169644929		2203	4299	6502	SO:0001819	synonymous_variant	344658							g.chr3:169644929G>A	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.879G>A	3.37:g.169644929G>A						SAMD7_ENST00000335556.3_Silent_p.K293K	p.K293K	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	1268	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		293						Silent	SNP	ENST00000428432.2	37	c.879G>A	CCDS3209.1																																																																																				0.547	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		13	59	0	0	0	1	0	13	59				
CYLC2	1539	broad.mit.edu	37	9	105767823	105767823	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:105767823G>T	ENST00000374798.3	+	5	980	c.910G>T	c.(910-912)Gcc>Tcc	p.A304S	CYLC2_ENST00000487798.1_Missense_Mutation_p.A304S	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	304	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.A304T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				caagaaagttgccaagaaaga	0.388																																						ENST00000374798.3																			1	Substitution - Missense(1)	p.A304T(1)	kidney(1)	NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(910-912)Gcc>Tcc		cylicin, basic protein of sperm head cytoskeleton 2							64.0	62.0	63.0					9																	105767823		2203	4300	6503	SO:0001583	missense	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767823G>T	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.910G>T	9.37:g.105767823G>T	ENSP00000420256:p.Ala304Ser					CYLC2_ENST00000487798.1_Missense_Mutation_p.A304S	p.A304S	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			5	980	+		all_hematologic(171;0.125)	304			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	37	c.910G>T	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	G	2.548	-0.304823	0.05495	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15256	2.44;2.44	3.9	-0.68	0.11346	.	1.550590	0.04540	N	0.387935	T	0.06142	0.0159	N	0.04508	-0.205	0.09310	N	1	B	0.23891	0.093	B	0.20955	0.032	T	0.28681	-1.0036	10	0.08837	T	0.75	0.92	1.8533	0.03173	0.1084:0.1762:0.3552:0.3601	.	304	Q14093	CYLC2_HUMAN	S	304	ENSP00000420256:A304S;ENSP00000417674:A304S	ENSP00000420256:A304S	A	+	1	0	CYLC2	104807644	0.000000	0.05858	0.000000	0.03702	0.173000	0.22820	-0.978000	0.03778	0.056000	0.16144	0.585000	0.79938	GCC		0.388	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340		3	18	1	0	0.115264	1	0.115264	3	18				
LRRC45	201255	broad.mit.edu	37	17	79982581	79982581	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:79982581C>T	ENST00000306688.3	+	3	637	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	STRA13_ENST00000580435.1_5'Flank|STRA13_ENST00000583767.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR|STRA13_ENST00000392359.3_5'Flank|STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000584347.1_5'Flank	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	99						centrosome (GO:0005813)		p.R99W(1)		lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CAACAACCTTCGGGCTGCAGG	0.622																																						ENST00000306688.3																			1	Substitution - Missense(1)	p.R99W(1)	upper_aerodigestive_tract(1)	lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(295-297)Cgg>Tgg		leucine rich repeat containing 45							58.0	63.0	62.0					17																	79982581		2203	4299	6502	SO:0001583	missense	201255					centrosome		g.chr17:79982581C>T	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.295C>T	17.37:g.79982581C>T	ENSP00000306760:p.Arg99Trp					LRRC45_ENST00000583383.1_3'UTR	p.R99W	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		3	637	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		99						Missense_Mutation	SNP	ENST00000306688.3	37	c.295C>T	CCDS11797.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559616	0.27827	.	.	ENSG00000169683	ENST00000306688	T	0.54279	0.58	3.36	1.25	0.21368	.	0.421948	0.22539	N	0.058758	T	0.65386	0.2686	M	0.84948	2.725	0.23981	N	0.996273	D	0.76494	0.999	P	0.57846	0.828	T	0.57266	-0.7841	9	.	.	.	0.0	7.1649	0.25685	0.1698:0.7371:0.0:0.0931	.	99	Q96CN5	LRC45_HUMAN	W	99	ENSP00000306760:R99W	.	R	+	1	2	LRRC45	77575870	0.990000	0.36364	0.045000	0.18777	0.018000	0.09664	1.192000	0.32150	0.224000	0.20940	0.462000	0.41574	CGG		0.622	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		11	52	0	0	0	1	0	11	52				
AK9	221264	broad.mit.edu	37	6	109965828	109965828	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:109965828C>G	ENST00000424296.2	-	9	899	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	AK9_ENST00000285397.5_Missense_Mutation_p.E275Q|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.E275Q	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	275	Adenylate kinase 1.|Glu-rich.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										ATAAAGAGCTCCTCTGCTGGT	0.348																																						ENST00000424296.2																			0											c.(823-825)Gag>Cag		adenylate kinase 9							157.0	147.0	151.0					6																	109965828		2203	4300	6503	SO:0001583	missense	221264							g.chr6:109965828C>G	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.823G>C	6.37:g.109965828C>G	ENSP00000410186:p.Glu275Gln					AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.E275Q|AK9_ENST00000368948.2_Missense_Mutation_p.E275Q	p.E275Q	NM_001145128.2	NP_001138600.2					9	899	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.823G>C	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.43|13.43	2.235017|2.235017	0.39498|0.39498	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000448084|ENST00000524674	T;T;T;T|.	0.66995|.	-0.24;-0.23;-0.15;0.77|.	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.050037|.	0.85682|.	D|.	0.000000|.	T|T	0.47820|0.47820	0.1466|0.1466	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	B;P|.	0.39551|.	0.303;0.678|.	B;B|.	0.33392|.	0.068;0.163|.	T|T	0.42378|0.42378	-0.9455|-0.9455	9|5	.|.	.|.	.|.	-22.5414|-22.5414	14.5977|14.5977	0.68419|0.68419	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	275;275|.	Q5TCS8-2;Q5TCS8|.	.;AKD1_HUMAN|.	Q|S	275;275;275;198|162	ENSP00000410186:E275Q;ENSP00000357944:E275Q;ENSP00000285397:E275Q;ENSP00000407510:E198Q|.	.|.	E|R	-|-	1|3	0|2	AKD1|AKD1	110072521|110072521	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.362000|0.362000	0.29581|0.29581	3.736000|3.736000	0.55052|0.55052	2.460000|2.460000	0.83146|0.83146	0.561000|0.561000	0.74099|0.74099	GAG|AGG		0.348	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		12	87	0	0	0	1	0	12	87				
DENND2A	27147	broad.mit.edu	37	7	140301871	140301871	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:140301871C>G	ENST00000275884.6	-	2	744	c.327G>C	c.(325-327)gaG>gaC	p.E109D	DENND2A_ENST00000496613.1_Missense_Mutation_p.E109D|DENND2A_ENST00000537639.1_Missense_Mutation_p.E109D|DENND2A_ENST00000492720.1_Missense_Mutation_p.E109D			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	109					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTTTATTCCTCTCCTTCTCTG	0.587																																						ENST00000275884.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(325-327)gaG>gaC		DENN/MADD domain containing 2A							174.0	175.0	174.0					7																	140301871		2072	4217	6289	SO:0001583	missense	27147							g.chr7:140301871C>G	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.327G>C	7.37:g.140301871C>G	ENSP00000275884:p.Glu109Asp					DENND2A_ENST00000492720.1_Missense_Mutation_p.E109D|DENND2A_ENST00000496613.1_Missense_Mutation_p.E109D|DENND2A_ENST00000537639.1_Missense_Mutation_p.E109D	p.E109D			Q9ULE3	DEN2A_HUMAN			2	744	-	Melanoma(164;0.00956)		109					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.327G>C	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	7.850	0.723814	0.15439	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728	T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29	5.13	0.652	0.17823	.	0.725037	0.12924	N	0.427950	T	0.57460	0.2055	N	0.08118	0	0.09310	N	1	B;B	0.11235	0.004;0.0	B;B	0.10450	0.005;0.001	T	0.40534	-0.9558	10	0.13108	T	0.6	-12.9847	7.7117	0.28682	0.0:0.6002:0.1492:0.2506	.	109;109	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	D	109	ENSP00000275884:E109D;ENSP00000442245:E109D;ENSP00000419654:E109D;ENSP00000419464:E109D;ENSP00000418844:E109D	ENSP00000275884:E109D	E	-	3	2	DENND2A	139948340	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.335000	0.07873	0.211000	0.20683	-0.126000	0.14955	GAG		0.587	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		58	177	0	0	0	1	0	58	177				
RAX	30062	broad.mit.edu	37	18	56939841	56939841	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:56939841G>A	ENST00000334889.3	-	2	481	c.295C>T	c.(295-297)Cga>Tga	p.R99*	RAX_ENST00000256852.7_Intron	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	99					camera-type eye development (GO:0043010)|hypothalamus development (GO:0021854)|limb development (GO:0060173)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		CAGTAGGGTCGAGGGGCTGGG	0.731																																					GBM(150;770 1898 17679 24325 37807)	ENST00000334889.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(295-297)Cga>Tga		retina and anterior neural fold homeobox							29.0	31.0	30.0					18																	56939841		2179	4282	6461	SO:0001587	stop_gained	30062				visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr18:56939841G>A	AF115392	CCDS11972.1	18q21.31	2011-06-20			ENSG00000134438	ENSG00000134438		"""Homeoboxes / PRD class"""	18662	protein-coding gene	gene with protein product		601881				10625658, 10766016, 14662654	Standard	NM_013435		Approved	RX	uc002lhx.3	Q9Y2V3	OTTHUMG00000132757	ENST00000334889.3:c.295C>T	18.37:g.56939841G>A	ENSP00000334813:p.Arg99*					RAX_ENST00000256852.7_Intron	p.R99*	NM_013435.2	NP_038463.2	Q9Y2V3	RX_HUMAN		STAD - Stomach adenocarcinoma(84;0.18)	2	481	-		Lung NSC(161;0.0804)|Colorectal(73;0.0946)	99					Q86V11	Nonsense_Mutation	SNP	ENST00000334889.3	37	c.295C>T	CCDS11972.1	.	.	.	.	.	.	.	.	.	.	G	36	5.619800	0.96660	.	.	ENSG00000134438	ENST00000334889	.	.	.	5.83	3.7	0.42460	.	0.253490	0.37483	N	0.002072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	6.2671	0.20932	0.132:0.0:0.6896:0.1783	.	.	.	.	X	99	.	ENSP00000334813:R99X	R	-	1	2	RAX	55090821	0.454000	0.25728	0.799000	0.32177	0.386000	0.30323	2.061000	0.41403	1.445000	0.47624	0.561000	0.74099	CGA		0.731	RAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256128.2			8	27	0	0	0	1	0	8	27				
LRRC37BP1	147172	broad.mit.edu	37	17	28961033	28961033	+	RNA	SNP	T	T	G	rs397833613		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:28961033T>G	ENST00000417404.1	+	0	1291									leucine rich repeat containing 37B pseudogene 1																		AGTTCCAGGATATGACTATAA	0.264																																						ENST00000417404.1																			0																																																			147172							g.chr17:28961033T>G	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961033T>G						LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA								0	1291	+									RNA	SNP	ENST00000417404.1	37																																																																																						0.264	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		3	29	0	0	0	1	0	3	29				
SIRPB1	10326	broad.mit.edu	37	20	1552368	1552368	+	Missense_Mutation	SNP	C	C	G	rs144175019		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:1552368C>G	ENST00000381605.4	-	3	813	c.749G>C	c.(748-750)cGa>cCa	p.R250P	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	250					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						TCTTCTACCTCGGATGGCCTC	0.597																																						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.(748-750)cGa>cCa		signal-regulatory protein beta 1							73.0	66.0	68.0					20																	1552368		2203	4300	6503	SO:0001583	missense	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1552368C>G	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.749G>C	20.37:g.1552368C>G	ENSP00000371018:p.Arg250Pro					SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000262929.5_Intron|RP4-576H24.4_ENST00000564763.1_Intron	p.R250P	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			3	813	-			250					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.749G>C	CCDS13019.1	.	.	.	.	.	.	.	.	.	.	.	15.08	2.726599	0.48833	.	.	ENSG00000101307	ENST00000381605	T	0.00593	6.34	2.47	-0.649	0.11461	Immunoglobulin-like fold (1);	0.314947	0.23017	N	0.052888	T	0.00845	0.0028	M	0.90759	3.145	0.80722	D	1	P	0.38110	0.618	B	0.35114	0.196	T	0.61525	-0.7045	10	0.27785	T	0.31	.	2.6656	0.05049	0.0:0.4453:0.279:0.2757	.	250	O00241	SIRB1_HUMAN	P	250	ENSP00000371018:R250P	ENSP00000371018:R250P	R	-	2	0	SIRPB1	1500368	1.000000	0.71417	0.994000	0.49952	0.846000	0.48090	0.553000	0.23391	0.143000	0.18926	0.456000	0.33151	CGA		0.597	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		19	60	0	0	0	1	0	19	60				
COL6A3	1293	broad.mit.edu	37	2	238249328	238249328	+	Missense_Mutation	SNP	G	G	A	rs373680762		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:238249328G>A	ENST00000295550.4	-	38	8683	c.8231C>T	c.(8230-8232)aCg>aTg	p.T2744M	COL6A3_ENST00000346358.4_Missense_Mutation_p.T2544M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2543M|COL6A3_ENST00000472056.1_Missense_Mutation_p.T2137M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2538M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2538M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2744	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACCTCGCCCGTCAGCATCAG	0.567																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(8230-8232)aCg>aTg		collagen, type VI, alpha 3		G	MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	80.0	79.0	79.0		8231,6410,7613	5.4	1.0	2		79	0,8600		0,0,4300	no	missense,missense,missense	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	81,81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	2744/3178,2137/2571,2538/2972	238249328	1,13005	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249328G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8231C>T	2.37:g.238249328G>A	ENSP00000295550:p.Thr2744Met					COL6A3_ENST00000472056.1_Missense_Mutation_p.T2137M|COL6A3_ENST00000347401.3_Missense_Mutation_p.T2543M|COL6A3_ENST00000346358.4_Missense_Mutation_p.T2544M|COL6A3_ENST00000353578.4_Missense_Mutation_p.T2538M|COL6A3_ENST00000409809.1_Missense_Mutation_p.T2538M	p.T2744M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8683	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2744			Nonhelical region.|VWFA 12.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.8231C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.362726	0.41902	2.27E-4	0.0	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.44	5.44	0.79542	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000028	D	0.91821	0.7412	M	0.80746	2.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.92028	0.5631	10	0.62326	D	0.03	.	19.6391	0.95749	0.0:0.0:1.0:0.0	.	2137;2538;2744	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	M	2744;2543;2538;2137;2538;2544	ENSP00000295550:T2744M;ENSP00000315609:T2543M;ENSP00000315873:T2538M;ENSP00000418285:T2137M;ENSP00000386844:T2538M;ENSP00000295546:T2544M	ENSP00000295550:T2744M	T	-	2	0	COL6A3	237914067	1.000000	0.71417	0.979000	0.43373	0.656000	0.38851	7.698000	0.84413	2.715000	0.92844	0.655000	0.94253	ACG		0.567	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		21	62	0	0	0	1	0	21	62				
C20orf24	55969	broad.mit.edu	37	20	35240503	35240503	+	3'UTR	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:35240503G>C	ENST00000373852.5	+	0	602				TGIF2-C20orf24_ENST00000558530.1_3'UTR|C20orf24_ENST00000342422.3_Missense_Mutation_p.L103F|C20orf24_ENST00000344795.3_3'UTR			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGACCCTCTTGATTACAGCAC	0.507																																						ENST00000342422.3																			0				breast(1)|kidney(1)|lung(2)	4						c.(307-309)ttG>ttC		chromosome 20 open reading frame 24							288.0	284.0	285.0					20																	35240503		2203	4300	6503	SO:0001624	3_prime_UTR_variant	55969							g.chr20:35240503G>C	AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.*53G>C	20.37:g.35240503G>C						C20orf24_ENST00000344795.3_3'UTR|C20orf24_ENST00000373852.5_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR	p.L103F	NM_199483.2	NP_955777.1					3	439	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)						E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	ENST00000373852.5	37	c.309G>C	CCDS56190.1	.	.	.	.	.	.	.	.	.	.	G	4.079	0.012594	0.07912	.	.	ENSG00000101084	ENST00000342422	.	.	.	4.86	3.78	0.43462	.	0.401232	0.29280	N	0.012606	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	P	0.37101	0.582	B	0.37267	0.245	T	0.09618	-1.0666	9	0.87932	D	0	-19.1223	6.6557	0.22986	0.8877:0.0:0.1123:0.0	.	103	Q5QPG6	.	F	103	.	ENSP00000341213:L103F	L	+	3	2	C20orf24	34673917	0.975000	0.34042	0.062000	0.19696	0.075000	0.17131	2.594000	0.46189	0.741000	0.32674	-0.367000	0.07326	TTG		0.507	C20orf24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079006.1	NM_018840		78	307	0	0	0	1	0	78	307				
PLXNA3	55558	broad.mit.edu	37	X	153694586	153694586	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:153694586G>A	ENST00000369682.3	+	15	2947	c.2772G>A	c.(2770-2772)acG>acA	p.T924T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	924	IPT/TIG 1.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTTCCGCACGCAGTCGGAGC	0.682																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(2770-2772)acG>acA		plexin A3							92.0	95.0	94.0					X																	153694586		2203	4300	6503	SO:0001819	synonymous_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153694586G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2772G>A	X.37:g.153694586G>A							p.T924T	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			15	2947	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		924			IPT/TIG 1.		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.2772G>A	CCDS14752.1																																																																																				0.682	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		7	148	0	0	0	1	0	7	148				
IPO7	10527	broad.mit.edu	37	11	9466643	9466643	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:9466643G>C	ENST00000379719.3	+	25	3161		c.e25-1			NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7						innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTGTTTTCTAGAATCCAAAAT	0.373																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e25-1		importin 7							68.0	69.0	68.0					11																	9466643		2201	4294	6495	SO:0001630	splice_region_variant	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9466643G>C	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.3020-1G>C	11.37:g.9466643G>C								NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	25	3161	+								A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Splice_Site	SNP	ENST00000379719.3	37		CCDS31425.1	.	.	.	.	.	.	.	.	.	.	g	16.99	3.274114	0.59649	.	.	ENSG00000205339	ENST00000379719	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7245	0.96157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IPO7	9423219	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.646000	0.89796	0.558000	0.71614	.		0.373	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391	Intron	19	50	0	0	0	1	0	19	50				
PZP	5858	broad.mit.edu	37	12	9304252	9304252	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:9304252G>C	ENST00000261336.2	-	33	4257	c.4229C>G	c.(4228-4230)tCt>tGt	p.S1410C	PZP_ENST00000381997.2_Missense_Mutation_p.S1196C	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1410					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCGGCTCACAGAGCTAGATCT	0.438																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(4228-4230)tCt>tGt		pregnancy-zone protein							74.0	60.0	65.0					12																	9304252		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9304252G>C	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4229C>G	12.37:g.9304252G>C	ENSP00000261336:p.Ser1410Cys					PZP_ENST00000381997.2_Missense_Mutation_p.S1196C	p.S1410C	NM_002864.2	NP_002855.2					33	4257	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.4229C>G	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118399	0.06838	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.23348	1.91;1.91	3.61	1.26	0.21427	Alpha-macroglobulin, receptor-binding (3);	1.806860	0.03826	U	0.268367	T	0.23171	0.0560	L	0.32530	0.975	0.09310	N	1	B;P	0.51351	0.001;0.944	B;P	0.45449	0.002;0.481	T	0.13818	-1.0495	10	0.38643	T	0.18	.	4.7168	0.12899	0.0:0.1099:0.2065:0.6836	.	1196;1410	P20742-2;P20742	.;PZP_HUMAN	C	1410;1196	ENSP00000261336:S1410C;ENSP00000371427:S1196C	ENSP00000261336:S1410C	S	-	2	0	PZP	9195519	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.094000	0.15107	0.268000	0.21939	-0.457000	0.05445	TCT		0.438	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		5	34	0	0	0	1	0	5	34				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	54	0	0	0	1	0	5	54				
LIPG	9388	broad.mit.edu	37	18	47091826	47091826	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:47091826C>G	ENST00000261292.4	+	2	515	c.237C>G	c.(235-237)ttC>ttG	p.F79L	LIPG_ENST00000577628.1_Missense_Mutation_p.F115L|LIPG_ENST00000580036.1_Missense_Mutation_p.F79L|LIPG_ENST00000427224.2_Missense_Mutation_p.F79L	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	79					cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.F79L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACTGCAGTTTCAACATGACAG	0.507																																					Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			1	Substitution - Missense(1)	p.F79L(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(235-237)ttC>ttG		lipase, endothelial							93.0	88.0	89.0					18																	47091826		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47091826C>G	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.237C>G	18.37:g.47091826C>G	ENSP00000261292:p.Phe79Leu					LIPG_ENST00000577628.1_Missense_Mutation_p.F115L|LIPG_ENST00000580036.1_Missense_Mutation_p.F79L|LIPG_ENST00000427224.2_Missense_Mutation_p.F79L	p.F79L	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			2	515	+			79					B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.237C>G	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893675	0.52121	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.91996	-2.95;-2.95	5.34	5.34	0.76211	Lipase, N-terminal (1);	0.044254	0.85682	D	0.000000	D	0.92971	0.7763	M	0.80422	2.495	0.54753	D	0.999981	B;B;B	0.18863	0.016;0.016;0.031	B;B;B	0.25291	0.059;0.059;0.057	D	0.90894	0.4763	10	0.87932	D	0	-24.2106	18.6371	0.91383	0.0:1.0:0.0:0.0	.	79;79;79	B4DTR8;Q9Y5X9;Q9Y5X9-2	.;LIPE_HUMAN;.	L	79	ENSP00000261292:F79L;ENSP00000387978:F79L	ENSP00000261292:F79L	F	+	3	2	LIPG	45345824	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	5.942000	0.70203	2.498000	0.84270	0.561000	0.74099	TTC		0.507	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		20	58	0	0	0	1	0	20	58				
NPAP1	23742	broad.mit.edu	37	15	24921116	24921116	+	Silent	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:24921116G>T	ENST00000329468.2	+	1	576	c.102G>T	c.(100-102)ccG>ccT	p.P34P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	34			P -> Q (in dbSNP:rs35022251).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											ACGCCTCCCCGCCCGGTCGGG	0.716																																						ENST00000329468.2																			0											c.(100-102)ccG>ccT		nuclear pore associated protein 1							7.0	10.0	9.0					15																	24921116		2036	4023	6059	SO:0001819	synonymous_variant	23742							g.chr15:24921116G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.102G>T	15.37:g.24921116G>T							p.P34P	NM_018958.2	NP_061831.2					1	576	+									Silent	SNP	ENST00000329468.2	37	c.102G>T	CCDS10015.1																																																																																				0.716	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		3	20	1	0	6.4e-05	1	6.46368e-05	3	20				
SZT2	23334	broad.mit.edu	37	1	43892993	43892993	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr1:43892993C>G	ENST00000562955.1	+	24	3304	c.3304C>G	c.(3304-3306)Caa>Gaa	p.Q1102E	SZT2_ENST00000372442.1_Missense_Mutation_p.Q260E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1159					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGGACCCCCTCAAGAGGAGAC	0.567																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(3304-3306)Caa>Gaa		seizure threshold 2 homolog (mouse)							41.0	45.0	44.0					1																	43892993		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43892993C>G	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3304C>G	1.37:g.43892993C>G	ENSP00000457168:p.Gln1102Glu					SZT2_ENST00000372442.1_Missense_Mutation_p.Q260E	p.Q1102E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			24	3304	+			1159					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.3304C>G	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695572	0.30052	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.64	5.64	0.86602	.	0.523113	0.20019	N	0.100955	T	0.41143	0.1146	L	0.54323	1.7	0.20926	N	0.999824	B	0.13145	0.007	B	0.18561	0.022	T	0.28299	-1.0048	9	0.10902	T	0.67	.	12.2457	0.54568	0.1695:0.8305:0.0:0.0	.	1102	Q5T011-5	.	E	260	.	ENSP00000361519:Q260E	Q	+	1	0	SZT2	43665580	0.955000	0.32602	0.996000	0.52242	0.718000	0.41266	1.975000	0.40569	2.653000	0.90120	0.655000	0.94253	CAA		0.567	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		12	70	0	0	0	1	0	12	70				
NPY4R	5540	broad.mit.edu	37	10	47087204	47087204	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:47087204C>G	ENST00000395716.1	+	2	506	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	NPY4R_ENST00000374312.1_Missense_Mutation_p.Q141E			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	141					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										GGAGAGGCATCAGCTCATCAT	0.582																																						ENST00000374312.1																			0											c.(421-423)Cag>Gag		neuropeptide Y receptor Y4							284.0	248.0	260.0					10																	47087204		2203	4300	6503	SO:0001583	missense	5540							g.chr10:47087204C>G		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.421C>G	10.37:g.47087204C>G	ENSP00000379066:p.Gln141Glu					NPY4R_ENST00000395716.1_Missense_Mutation_p.Q141E	p.Q141E	NM_005972.4	NP_005963.3					3	840	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.421C>G	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485071	0.84854	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.37235	1.21;1.21	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.061216	0.64402	D	0.000002	T	0.67496	0.2899	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.75701	-0.3226	10	0.66056	D	0.02	.	16.0236	0.80522	0.0:1.0:0.0:0.0	.	141	P50391	NPY4R_HUMAN	E	141	ENSP00000363431:Q141E;ENSP00000379066:Q141E	ENSP00000363431:Q141E	Q	+	1	0	PPYR1	46507210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.493000	0.81493	2.464000	0.83262	0.609000	0.83330	CAG		0.582	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			20	257	0	0	0	1	0	20	257				
NARFL	64428	broad.mit.edu	37	16	786324	786324	+	Silent	SNP	C	C	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:786324C>G	ENST00000251588.2	-	4	397	c.381G>C	c.(379-381)cgG>cgC	p.R127R	NARFL_ENST00000301694.5_Intron|NARFL_ENST00000568545.1_Silent_p.R25R|NARFL_ENST00000562862.1_5'Flank|NARFL_ENST00000540986.1_Silent_p.R25R	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	127					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				TCAGCTGAAACCGTGCAGCCA	0.502																																						ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(73-75)cgG>cgC		nuclear prelamin A recognition factor-like							106.0	100.0	102.0					16																	786324		2200	4300	6500	SO:0001819	synonymous_variant	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:786324C>G	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.381G>C	16.37:g.786324C>G						NARFL_ENST00000251588.2_Silent_p.R127R|NARFL_ENST00000568545.1_Silent_p.R25R|NARFL_ENST00000301694.5_Intron	p.R25R			Q9H6Q4	NARFL_HUMAN			3	1510	-		Hepatocellular(780;0.0218)	127					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Silent	SNP	ENST00000251588.2	37	c.75G>C	CCDS10425.1																																																																																				0.502	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		26	71	0	0	0	1	0	26	71				
ERCC6L	54821	broad.mit.edu	37	X	71425945	71425945	+	Missense_Mutation	SNP	C	C	T	rs146534560	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:71425945C>T	ENST00000334463.3	-	2	2807	c.2672G>A	c.(2671-2673)cGt>cAt	p.R891H	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.R768H	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	891					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTGCAATGACGTAAAATCTC	0.348																																						ENST00000373657.1																			0				breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38						c.(2302-2304)cGt>cAt		excision repair cross-complementing rodent repair deficiency, complementation group 6-like		C	,HIS/ARG	0,3835		0,0,0,1632,571	79.0	72.0	75.0		,2672	-1.9	0.0	X	dbSNP_134	75	1,6727		0,0,1,2428,1871	no	intron,missense	PIN4,ERCC6L	NM_001170747.1,NM_017669.2	,29	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,benign	,891/1251	71425945	1,10562	2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71425945C>T	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2672G>A	X.37:g.71425945C>T	ENSP00000334675:p.Arg891His					ERCC6L_ENST00000334463.3_Missense_Mutation_p.R891H|PIN4_ENST00000423432.2_Intron	p.R768H			Q2NKX8	ERC6L_HUMAN			3	2905	-	Renal(35;0.156)		891					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2303G>A	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	4.970	0.180120	0.09443	0.0	1.49E-4	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90732	-2.69;-2.72	4.85	-1.86	0.07760	.	.	.	.	.	T	0.68458	0.3003	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59016	-0.7533	9	0.18710	T	0.47	5.0E-4	0.8235	0.01116	0.1644:0.1993:0.3327:0.3036	.	891	Q2NKX8	ERC6L_HUMAN	H	768;891	ENSP00000362761:R768H;ENSP00000334675:R891H	ENSP00000334675:R891H	R	-	2	0	ERCC6L	71342670	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.260000	0.08708	-0.300000	0.08895	-0.306000	0.09157	CGT		0.348	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		12	31	0	0	0	1	0	12	31				
OR52E4	390081	broad.mit.edu	37	11	5906452	5906452	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:5906452G>C	ENST00000316987.2	+	1	952	c.930G>C	c.(928-930)caG>caC	p.Q310H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q310H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTTGTACAGAAAGAATAAT	0.368																																						ENST00000316987.2																			1	Substitution - Missense(1)	p.Q310H(1)	autonomic_ganglia(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(928-930)caG>caC		olfactory receptor, family 52, subfamily E, member 4							44.0	41.0	42.0					11																	5906452		2021	4191	6212	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5906452G>C	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.930G>C	11.37:g.5906452G>C	ENSP00000321426:p.Gln310His						p.Q310H	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	952	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	310					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.930G>C	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	G	8.033	0.762154	0.15914	.	.	ENSG00000180974	ENST00000316987	T	0.37235	1.21	5.26	-0.548	0.11833	.	0.620485	0.13370	N	0.392983	T	0.18130	0.0435	N	0.12920	0.275	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.15723	-1.0427	10	0.44086	T	0.13	.	5.1416	0.14961	0.4001:0.1423:0.4576:0.0	.	310	Q8NGH9	O52E4_HUMAN	H	310	ENSP00000321426:Q310H	ENSP00000321426:Q310H	Q	+	3	2	OR52E4	5863028	0.012000	0.17670	0.790000	0.31976	0.737000	0.42083	-0.369000	0.07533	-0.253000	0.09514	0.643000	0.83706	CAG		0.368	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		24	36	0	0	0	1	0	24	36				
ACOT8	10005	broad.mit.edu	37	20	44472992	44472992	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:44472992C>T	ENST00000217455.4	-	4	646	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	186					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGCTTGATCTCAATGGGGACC	0.552																																						ENST00000217455.4																			0				kidney(2)|large_intestine(3)|lung(4)|skin(1)	10						c.(556-558)Gag>Aag		acyl-CoA thioesterase 8							89.0	80.0	83.0					20																	44472992		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44472992C>T	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.556G>A	20.37:g.44472992C>T	ENSP00000217455:p.Glu186Lys						p.E186K	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN			4	646	-		Myeloproliferative disorder(115;0.0122)	186					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.556G>A	CCDS13378.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688317	0.88639	.	.	ENSG00000101473	ENST00000217455	.	.	.	5.57	5.57	0.84162	.	0.092616	0.64402	D	0.000001	D	0.90099	0.6907	H	0.97103	3.94	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.998;0.982	D;D;D;P	0.77557	0.99;0.959;0.977;0.864	D	0.93044	0.6460	9	0.87932	D	0	.	19.5469	0.95302	0.0:1.0:0.0:0.0	.	66;186;133;186	E9PRD4;B4DLF4;A8K8X9;O14734	.;.;.;ACOT8_HUMAN	K	186	.	ENSP00000217455:E186K	E	-	1	0	ACOT8	43906399	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	5.638000	0.67861	2.619000	0.88677	0.561000	0.74099	GAG		0.552	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		14	48	0	0	0	1	0	14	48				
MAP2K7	5609	broad.mit.edu	37	19	7976017	7976017	+	Silent	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:7976017G>A	ENST00000397979.3	+	7	882	c.828G>A	c.(826-828)cgG>cgA	p.R276R	MAP2K7_ENST00000545011.1_Silent_p.R318R|MAP2K7_ENST00000397983.3_Silent_p.R292R|CTD-3193O13.13_ENST00000595655.1_RNA|MAP2K7_ENST00000397981.3_Silent_p.R276R	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CCAAGACGCGGAGCGCCGGCT	0.692																																						ENST00000545011.1																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(952-954)cgG>cgA		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						18.0	22.0	20.0					19																	7976017		1916	4131	6047	SO:0001819	synonymous_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7976017G>A	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.828G>A	19.37:g.7976017G>A						MAP2K7_ENST00000397983.3_Silent_p.R292R|MAP2K7_ENST00000397981.3_Silent_p.R276R|MAP2K7_ENST00000397979.3_Silent_p.R276R	p.R318R			O14733	MP2K7_HUMAN			7	1019	+			276			Protein kinase.		B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.954G>A	CCDS42491.1																																																																																				0.692	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			5	32	0	0	0	1	0	5	32				
ZNF490	57474	broad.mit.edu	37	19	12691749	12691749	+	Silent	SNP	G	G	A	rs559788529		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr19:12691749G>A	ENST00000311437.6	-	5	1262	c.1140C>T	c.(1138-1140)caC>caT	p.H380H	ZNF490_ENST00000465656.1_5'Flank|CTD-2192J16.20_ENST00000593682.1_Missense_Mutation_p.T14M	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H380H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						GAGTTCTTTCGTGCACTTCAC	0.413													g|||	1	0.000199681	0.0	0.0	5008	,	,		20874	0.0		0.0	False		,,,				2504	0.001					ENST00000593682.1																			1	Substitution - coding silent(1)	p.H380H(1)	endometrium(1)								c.(40-42)aCg>aTg									92.0	94.0	93.0					19																	12691749		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr19:12691749G>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.1140C>T	19.37:g.12691749G>A						ZNF490_ENST00000311437.6_Silent_p.H380H	p.T14M							1	40	-									Missense_Mutation	SNP	ENST00000311437.6	37	c.41C>T	CCDS12272.1																																																																																				0.413	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		23	63	0	0	0	1	0	23	63				
TLR7	51284	broad.mit.edu	37	X	12905259	12905259	+	Silent	SNP	G	G	C			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:12905259G>C	ENST00000380659.3	+	3	1771	c.1632G>C	c.(1630-1632)ctG>ctC	p.L544L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	544					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TAGCAGAGCTGAGATATTTGG	0.403																																						ENST00000380659.3																			0				NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44						c.(1630-1632)ctG>ctC		toll-like receptor 7	Imiquimod(DB00724)						185.0	196.0	192.0					X																	12905259		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905259G>C	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1632G>C	X.37:g.12905259G>C							p.L544L	NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN			3	1771	+			544					D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.1632G>C	CCDS14151.1																																																																																				0.403	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		82	323	0	0	0	1	0	82	323				
GPR158	57512	broad.mit.edu	37	10	25464907	25464907	+	Silent	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:25464907G>T	ENST00000376351.3	+	1	917	c.558G>T	c.(556-558)ccG>ccT	p.P186P	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	186					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTCCGCACCGGCCCCACAGG	0.672																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(556-558)ccG>ccT		G protein-coupled receptor 158							36.0	33.0	34.0					10																	25464907		2202	4299	6501	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464907G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.558G>T	10.37:g.25464907G>T						GPR158-AS1_ENST00000449643.1_RNA	p.P186P	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			1	917	+			186					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.558G>T	CCDS31166.1																																																																																				0.672	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		13	30	1	0	5.50884e-06	1	5.61957e-06	13	30				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	96	0	0	0	1	0	4	96				
PTPRD	5789	broad.mit.edu	37	9	8460435	8460435	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:8460435A>G	ENST00000381196.4	-	30	4394	c.3851T>C	c.(3850-3852)gTc>gCc	p.V1284A	PTPRD_ENST00000356435.5_Missense_Mutation_p.V1284A|PTPRD_ENST00000397606.3_Missense_Mutation_p.V863A|PTPRD_ENST00000397611.3_Missense_Mutation_p.V870A|PTPRD_ENST00000537002.1_Missense_Mutation_p.V870A|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1271A|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1262A|PTPRD_ENST00000355233.5_Missense_Mutation_p.V873A|PTPRD_ENST00000486161.1_Missense_Mutation_p.V873A|PTPRD_ENST00000397617.3_Missense_Mutation_p.V863A|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1284A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1284					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATAGCAATGACAATGCAGAT	0.418										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3850-3852)gTc>gCc		protein tyrosine phosphatase, receptor type, D							148.0	133.0	138.0					9																	8460435		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8460435A>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3851T>C	9.37:g.8460435A>G	ENSP00000370593:p.Val1284Ala	TSP Lung(15;0.13)				PTPRD_ENST00000540109.1_Missense_Mutation_p.V1284A|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1271A|PTPRD_ENST00000537002.1_Missense_Mutation_p.V870A|PTPRD_ENST00000397606.3_Missense_Mutation_p.V863A|PTPRD_ENST00000486161.1_Missense_Mutation_p.V873A|PTPRD_ENST00000397617.3_Missense_Mutation_p.V863A|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1262A|PTPRD_ENST00000397611.3_Missense_Mutation_p.V870A|PTPRD_ENST00000355233.5_Missense_Mutation_p.V873A|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1284A	p.V1284A	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	30	4394	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1284					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3851T>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226058	0.79576	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.58940	0.46;0.46;0.52;0.57;0.55;0.79;0.44;0.3;0.46;0.55;0.79	5.76	5.76	0.90799	.	0.120167	0.56097	D	0.000038	T	0.73729	0.3624	M	0.71581	2.175	0.80722	D	1	P;P;P;P;D;P;B;B;B	0.58268	0.924;0.924;0.924;0.924;0.982;0.954;0.012;0.437;0.28	P;P;P;P;D;D;B;B;B	0.65684	0.857;0.857;0.857;0.857;0.937;0.932;0.021;0.207;0.153	T	0.74423	-0.3670	9	.	.	.	.	15.7412	0.77899	1.0:0.0:0.0:0.0	.	863;868;873;873;870;870;1271;1284;1284	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	A	1284;1284;1271;1262;873;863;870;870;755;1284;873;863	ENSP00000370593:V1284A;ENSP00000348812:V1284A;ENSP00000353187:V1271A;ENSP00000351293:V1262A;ENSP00000347373:V873A;ENSP00000380741:V863A;ENSP00000380735:V870A;ENSP00000440515:V870A;ENSP00000438164:V1284A;ENSP00000417093:V873A;ENSP00000380731:V863A	.	V	-	2	0	PTPRD	8450435	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.932000	0.92897	2.185000	0.69588	0.460000	0.39030	GTC		0.418	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			11	167	0	0	0	1	0	11	167				
MYH7	4625	broad.mit.edu	37	14	23884890	23884890	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr14:23884890G>A	ENST00000355349.3	-	35	5267	c.5105C>T	c.(5104-5106)gCg>gTg	p.A1702V	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1702					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCCTGCTCCGCCAGCTTCCG	0.637																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(5104-5106)gCg>gTg		myosin, heavy chain 7, cardiac muscle, beta							68.0	65.0	66.0					14																	23884890		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23884890G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.5105C>T	14.37:g.23884890G>A	ENSP00000347507:p.Ala1702Val					CTD-2201G16.1_ENST00000557368.1_RNA	p.A1702V	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	35	5267	-	all_cancers(95;2.54e-05)		1702					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.5105C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349786	0.82132	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.82984	-1.67	5.31	5.31	0.75309	Myosin tail (1);	.	.	.	.	D	0.87474	0.6186	M	0.88906	2.99	0.80722	D	1	P	0.45672	0.864	B	0.42112	0.376	D	0.90143	0.4215	9	0.72032	D	0.01	.	19.1626	0.93539	0.0:0.0:1.0:0.0	.	1702	P12883	MYH7_HUMAN	V	1702;1707	ENSP00000347507:A1702V	ENSP00000347507:A1702V	A	-	2	0	MYH7	22954730	1.000000	0.71417	0.967000	0.41034	0.944000	0.59088	7.100000	0.76989	2.768000	0.95171	0.561000	0.74099	GCG		0.637	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		20	69	0	0	0	1	0	20	69				
SPIRE1	56907	broad.mit.edu	37	18	12452302	12452302	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr18:12452302G>A	ENST00000409402.4	-	16	2231	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Missense_Mutation_p.S521L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.S444L|SPIRE1_ENST00000410092.3_Missense_Mutation_p.S641L	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGGTTTTTCTGACCTCATACT	0.502																																						ENST00000409402.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(1963-1965)tCa>tTa		spire-type actin nucleation factor 1							66.0	61.0	63.0					18																	12452302		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12452302G>A	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.1964C>T	18.37:g.12452302G>A	ENSP00000387266:p.Ser655Leu					SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Missense_Mutation_p.S641L|SPIRE1_ENST00000309836.5_Missense_Mutation_p.S444L|SPIRE1_ENST00000453447.2_Missense_Mutation_p.S521L	p.S655L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN			16	2231	-			655						Missense_Mutation	SNP	ENST00000409402.4	37	c.1964C>T	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875609	0.72180	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836	T;T;T;T	0.46451	0.87;1.46;1.45;0.87	5.71	5.71	0.89125	.	0.504033	0.23367	N	0.048948	T	0.42743	0.1216	L	0.46157	1.445	0.80722	D	1	B;B;B	0.19200	0.013;0.029;0.034	B;B;B	0.24394	0.016;0.045;0.053	T	0.16217	-1.0410	10	0.35671	T	0.21	0.8322	19.8506	0.96738	0.0:0.0:1.0:0.0	.	641;444;655	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	L	521;655;641;444	ENSP00000407050:S521L;ENSP00000387266:S655L;ENSP00000387226:S641L;ENSP00000309661:S444L	ENSP00000309661:S444L	S	-	2	0	SPIRE1	12442302	0.976000	0.34144	0.892000	0.35008	0.520000	0.34377	5.336000	0.65935	2.686000	0.91538	0.655000	0.94253	TCA		0.502	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818		9	43	0	0	0	1	0	9	43				
ANKRD20A4	728747	broad.mit.edu	37	9	69423835	69423835	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:69423835G>A	ENST00000357336.3	+	15	2412	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	711										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GGAAATGAAAGAGATGTATCA	0.398																																						ENST00000357336.3																			0				breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						c.(2131-2133)Gag>Aag		ankyrin repeat domain 20 family, member A4							15.0	18.0	17.0					9																	69423835		1071	2545	3616	SO:0001583	missense	728747							g.chr9:69423835G>A		CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.2131G>A	9.37:g.69423835G>A	ENSP00000349891:p.Glu711Lys						p.E711K	NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN			15	2412	+			711						Missense_Mutation	SNP	ENST00000357336.3	37	c.2131G>A	CCDS43828.1	.	.	.	.	.	.	.	.	.	.	G	8.052	0.766112	0.15983	.	.	ENSG00000172014	ENST00000357336	T	0.13420	2.59	2.26	-0.00612	0.14015	.	.	.	.	.	T	0.06917	0.0176	N	0.22421	0.69	0.22803	N	0.998717	B	0.24426	0.103	B	0.09377	0.004	T	0.43360	-0.9396	9	0.14656	T	0.56	.	5.5659	0.17170	0.2186:0.5575:0.2239:0.0	.	711	Q4UJ75	A20A4_HUMAN	K	711	ENSP00000349891:E711K	ENSP00000349891:E711K	E	+	1	0	ANKRD20A4	68713655	0.341000	0.24801	0.064000	0.19789	0.189000	0.23516	0.280000	0.18790	-0.155000	0.11098	0.184000	0.17185	GAG		0.398	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3	NM_001098805		76	56	0	0	0	1	0	76	56				
TTN	7273	broad.mit.edu	37	2	179639753	179639753	+	Missense_Mutation	SNP	G	G	A	rs56851316		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr2:179639753G>A	ENST00000591111.1	-	29	6909	c.6685C>T	c.(6685-6687)Cac>Tac	p.H2229Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.H2229Y|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H2229Y|TTN_ENST00000342992.6_Missense_Mutation_p.H2229Y|TTN_ENST00000359218.5_Missense_Mutation_p.H2183Y|TTN_ENST00000460472.2_Missense_Mutation_p.H2183Y|TTN_ENST00000342175.6_Missense_Mutation_p.H2183Y			Q8WZ42	TITIN_HUMAN	titin	12555	Ig-like 11.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGAGGAAGTGAACCTTTCTG	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		20071	0.001		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6685-6687)Cac>Tac		titin							183.0	171.0	175.0					2																	179639753		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179639753G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6685C>T	2.37:g.179639753G>A	ENSP00000465570:p.His2229Tyr					TTN_ENST00000359218.5_Missense_Mutation_p.H2183Y|TTN_ENST00000591111.1_Missense_Mutation_p.H2229Y|TTN_ENST00000360870.5_Missense_Mutation_p.H2229Y|TTN_ENST00000460472.2_Missense_Mutation_p.H2183Y|TTN_ENST00000342175.6_Missense_Mutation_p.H2183Y|TTN_ENST00000342992.6_Missense_Mutation_p.H2229Y	p.H2229Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		29	6909	-			1966			Ig-like 11.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6685C>T		.	.	.	.	.	.	.	.	.	.	G	15.29	2.789496	0.50102	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79690	0.4489	M	0.71581	2.175	0.41696	D	0.98937	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.81799	-0.0767	9	0.87932	D	0	.	19.2123	0.93760	0.0:0.0:1.0:0.0	rs56851316	2183;2183;2183;2229;2229	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Y	2229;2183;2183;2183;2183;2229	ENSP00000343764:H2229Y;ENSP00000434586:H2183Y;ENSP00000340554:H2183Y;ENSP00000352154:H2183Y;ENSP00000354117:H2229Y	ENSP00000340554:H2183Y	H	-	1	0	TTN	179347998	1.000000	0.71417	0.996000	0.52242	0.831000	0.47069	9.869000	0.99810	2.542000	0.85734	0.557000	0.71058	CAC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	77	0	0	0	1	0	7	77				
DMD	1756	broad.mit.edu	37	X	33038269	33038269	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chrX:33038269G>T	ENST00000357033.4	-	2	286	c.80C>A	c.(79-81)gCa>gAa	p.A27E	DMD_ENST00000288447.4_Missense_Mutation_p.A19E|DMD_ENST00000378677.2_Missense_Mutation_p.A23E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	27	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGAAAATTGTGCATTTACCCA	0.259																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(79-81)gCa>gAa		dystrophin							71.0	61.0	64.0					X																	33038269		2193	4278	6471	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:33038269G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.80C>A	X.37:g.33038269G>T	ENSP00000354923:p.Ala27Glu					DMD_ENST00000288447.4_Missense_Mutation_p.A19E|DMD_ENST00000378677.2_Missense_Mutation_p.A23E	p.A27E	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			2	286	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	27			Actin-binding.|CH 1.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.80C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743883	0.49151	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000420596;ENST00000448370;ENST00000288447	D;D;T;T;D	0.94650	-3.48;-3.48;0.82;0.29;-3.48	5.23	4.37	0.52481	Calponin homology domain (5);	0.202479	0.23123	U	0.051665	D	0.92958	0.7759	N	0.13352	0.335	0.80722	D	1	B;B;D;D;D	0.61697	0.242;0.242;0.987;0.988;0.99	B;B;P;D;P	0.63597	0.24;0.24;0.83;0.916;0.894	D	0.92777	0.6237	10	0.72032	D	0.01	.	10.5883	0.45296	0.0969:0.0:0.9031:0.0	.	23;19;19;27;23	B1AK23;Q4G0X0;P11532-4;P11532;E9PDN5	.;.;.;DMD_HUMAN;.	E	19;23;27;27;27;27;19	ENSP00000367948:A23E;ENSP00000354923:A27E;ENSP00000399897:A27E;ENSP00000388559:A27E;ENSP00000288447:A19E	ENSP00000288447:A19E	A	-	2	0	DMD	32948190	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.721000	0.61951	0.981000	0.38548	0.538000	0.68166	GCA		0.259	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	22	1	0	2.0095e-06	1	2.06024e-06	6	22				
INPPL1	3636	broad.mit.edu	37	11	71949125	71949125	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr11:71949125G>A	ENST00000298229.2	+	27	3796	c.3592G>A	c.(3592-3594)Gag>Aag	p.E1198K	INPPL1_ENST00000541756.1_Missense_Mutation_p.E956K|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000538751.1_Missense_Mutation_p.E956K	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1198	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CGGGCTGGGCGAGGCAGGCAT	0.662											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000541756.1																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2866-2868)Gag>Aag		inositol polyphosphate phosphatase-like 1							18.0	19.0	19.0					11																	71949125		2195	4289	6484	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71949125G>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3592G>A	11.37:g.71949125G>A	ENSP00000298229:p.Glu1198Lys		OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1133	INPPL1_ENST00000538751.1_Missense_Mutation_p.E956K|INPPL1_ENST00000298229.2_Missense_Mutation_p.E1198K	p.E956K			O15357	SHIP2_HUMAN			27	3796	+			1198			Pro-rich.		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.2866G>A	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.212355	0.79240	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751	D;D;D	0.82526	-1.62;-1.62;-1.62	4.84	4.84	0.62591	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);	0.000000	0.64402	D	0.000003	D	0.84534	0.5493	L	0.54323	1.7	0.43787	D	0.996323	D	0.71674	0.998	P	0.52159	0.691	D	0.84109	0.0400	10	0.38643	T	0.18	.	15.4916	0.75611	0.0:0.0:1.0:0.0	.	1198	O15357	SHIP2_HUMAN	K	1198;956;956	ENSP00000298229:E1198K;ENSP00000446360:E956K;ENSP00000444619:E956K	ENSP00000298229:E1198K	E	+	1	0	INPPL1	71626773	1.000000	0.71417	0.987000	0.45799	0.845000	0.48019	5.224000	0.65288	2.503000	0.84419	0.591000	0.81541	GAG		0.662	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		7	12	0	0	0	1	0	7	12				
CLK3	1198	broad.mit.edu	37	15	74911679	74911679	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:74911679C>T	ENST00000395066.3	+	2	1047	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	CLK3_ENST00000348245.3_Missense_Mutation_p.R48W|CLK3_ENST00000352989.5_Missense_Mutation_p.R48W|CLK3_ENST00000345005.4_Missense_Mutation_p.R48W	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	196	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						ACGAAGATCTCGGTCCAGAAG	0.577																																					Ovarian(133;694 1754 28950 29027 31859)	ENST00000395066.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						c.(586-588)Cgg>Tgg		CDC-like kinase 3							104.0	92.0	96.0					15																	74911679		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74911679C>T	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.586C>T	15.37:g.74911679C>T	ENSP00000378505:p.Arg196Trp					CLK3_ENST00000348245.3_Missense_Mutation_p.R48W|CLK3_ENST00000345005.4_Missense_Mutation_p.R48W|CLK3_ENST00000352989.5_Missense_Mutation_p.R48W	p.R196W	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN			2	1047	+			196			Arg-rich.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.586C>T	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833713	0.71258	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.53206	0.66;0.63	4.74	2.78	0.32641	.	0.191389	0.36200	N	0.002737	T	0.53270	0.1786	L	0.27053	0.805	0.41259	D	0.986762	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.99;0.998;0.942	T	0.55724	-0.8096	10	0.87932	D	0	.	11.7267	0.51714	0.3195:0.6805:0.0:0.0	.	196;196;48	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	W	48;48;196;48;48	ENSP00000344112:R48W;ENSP00000323106:R48W	ENSP00000344112:R48W	R	+	1	2	CLK3	72698732	0.924000	0.31332	0.995000	0.50966	0.991000	0.79684	1.280000	0.33202	0.557000	0.29117	0.655000	0.94253	CGG		0.577	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			31	88	0	0	0	1	0	31	88				
F13A1	2162	broad.mit.edu	37	6	6175070	6175070	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:6175070G>A	ENST00000264870.3	-	12	1755	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	497					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CATCAGGGCAGTTTCTAGGGC	0.453																																						ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(1489-1491)aCt>aTt		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						92.0	86.0	88.0					6																	6175070		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6175070G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1490C>T	6.37:g.6175070G>A	ENSP00000264870:p.Thr497Ile						p.T497I	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			12	1755	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	497					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.1490C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158753	0.78226	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	D	0.95518	-3.73	5.8	5.8	0.92144	.	0.053401	0.85682	D	0.000000	D	0.94265	0.8158	M	0.74467	2.265	0.49483	D	0.999793	P;P	0.50943	0.839;0.94	B;B	0.42245	0.27;0.381	D	0.94628	0.7819	10	0.59425	D	0.04	.	19.0512	0.93046	0.0:0.0:1.0:0.0	.	434;497	F5H080;P00488	.;F13A_HUMAN	I	497;434	ENSP00000264870:T497I	ENSP00000264870:T497I	T	-	2	0	F13A1	6120069	1.000000	0.71417	0.912000	0.35992	0.971000	0.66376	6.928000	0.75846	2.735000	0.93741	0.655000	0.94253	ACT		0.453	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		12	46	0	0	0	1	0	12	46				
SLC35F1	222553	broad.mit.edu	37	6	118635300	118635300	+	Missense_Mutation	SNP	G	G	A	rs138680595		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:118635300G>A	ENST00000360388.4	+	8	1313	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	371					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AAGCAGTTCCGCAATCCTTCA	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20524	0.0		0.0	False		,,,				2504	0.0					ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1111-1113)cGc>cAc		solute carrier family 35, member F1		G	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	158.0	140.0	146.0		1112	4.7	1.0	6	dbSNP_134	146	0,8600		0,0,4300	yes	missense	SLC35F1	NM_001029858.3	29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	371/409	118635300	5,13001	2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118635300G>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.1112G>A	6.37:g.118635300G>A	ENSP00000353557:p.Arg371His						p.R371H	NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	8	1313	+			371					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.1112G>A	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855548	0.71834	0.001135	0.0	ENSG00000196376	ENST00000360388	.	.	.	5.56	4.7	0.59300	.	0.058713	0.64402	N	0.000003	T	0.23846	0.0577	L	0.36672	1.1	0.53688	D	0.999971	P	0.41232	0.743	B	0.29440	0.102	T	0.09818	-1.0657	9	0.45353	T	0.12	.	14.2205	0.65823	0.0717:0.0:0.9283:0.0	.	371	Q5T1Q4	S35F1_HUMAN	H	371	.	ENSP00000353557:R371H	R	+	2	0	SLC35F1	118741993	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	6.673000	0.74482	1.361000	0.45981	0.655000	0.94253	CGC		0.557	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		23	147	0	0	0	1	0	23	147				
C20orf197	284756	broad.mit.edu	37	20	58645874	58645874	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr20:58645874G>A	ENST00000313426.1	+	4	598	c.292G>A	c.(292-294)Gct>Act	p.A98T		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	98										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			ggtattaaaggctctgcaaag	0.473																																						ENST00000313426.1																			0				large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(292-294)Gct>Act		chromosome 20 open reading frame 197							69.0	66.0	67.0					20																	58645874		2203	4300	6503	SO:0001583	missense	284756							g.chr20:58645874G>A	AK091179	CCDS13487.1	20q13.33	2006-07-07			ENSG00000176659	ENSG00000176659			26601	protein-coding gene	gene with protein product						12975309	Standard	NM_173644		Approved	FLJ33860	uc002ybj.1	Q8N268	OTTHUMG00000032880	ENST00000313426.1:c.292G>A	20.37:g.58645874G>A	ENSP00000316457:p.Ala98Thr						p.A98T	NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.33e-09)		4	598	+			98					Q08EQ0	Missense_Mutation	SNP	ENST00000313426.1	37	c.292G>A	CCDS13487.1	.	.	.	.	.	.	.	.	.	.	G	9.545	1.114424	0.20795	.	.	ENSG00000176659	ENST00000313426	.	.	.	2.12	-0.00989	0.13998	.	.	.	.	.	T	0.16599	0.0399	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.17722	0.019	T	0.22208	-1.0223	8	0.87932	D	0	.	3.2079	0.06672	0.1767:0.2827:0.5406:0.0	.	98	Q8N268	CT197_HUMAN	T	98	.	ENSP00000316457:A98T	A	+	1	0	C20orf197	58079269	0.001000	0.12720	0.001000	0.08648	0.015000	0.08874	0.108000	0.15396	0.025000	0.15241	-0.339000	0.08088	GCT		0.473	C20orf197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079944.1	NM_173644		9	19	0	0	0	1	0	9	19				
CRHR1	1394	broad.mit.edu	37	17	43912090	43912090	+	Missense_Mutation	SNP	G	G	A	rs375447132		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr17:43912090G>A	ENST00000398285.3	+	14	1295	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	CRHR1_ENST00000314537.5_Missense_Mutation_p.R403H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V257M|CRHR1_ENST00000293493.7_Missense_Mutation_p.R228H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R363H|CRHR1_ENST00000577353.1_Missense_Mutation_p.R389H	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	432					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TCCCCAACCCGTGTCAGCTTT	0.642																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(1207-1209)cGt>cAt		corticotropin releasing hormone receptor 1		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4382		0,0,2191	68.0	80.0	76.0		1295,1088,1166,1208	5.2	1.0	17		76	1,8583		0,1,4291	no	missense,missense,missense,missense	CRHR1	NM_001145146.1,NM_001145147.1,NM_001145148.1,NM_004382.4	29,29,29,29	0,1,6482	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	432/445,363/376,389/402,403/416	43912090	1,12965	2191	4292	6483	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43912090G>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.1295G>A	17.37:g.43912090G>A	ENSP00000381333:p.Arg432His					CRHR1_ENST00000577353.1_Missense_Mutation_p.R389H|CRHR1_ENST00000398285.3_Missense_Mutation_p.R432H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R363H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V257M|CRHR1_ENST00000293493.7_Missense_Mutation_p.R228H	p.R403H	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	13	1433	+	Colorectal(2;0.0416)		432					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.1208G>A	CCDS45712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.453545|5.453545	0.96223|0.96223	0.0|0.0	1.16E-4|1.16E-4	ENSG00000120088|ENSG00000120088	ENST00000293493;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855|ENST00000339069	T;T;T;T|T	0.47528|0.50277	1.45;0.98;0.84;1.0|0.75	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.43500|0.43500	0.1250|0.1250	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	D;D;D;D;D|P	0.89917|0.43024	1.0;1.0;1.0;1.0;1.0|0.798	D;D;D;D;D|B	0.76071|0.31337	0.987;0.985;0.953;0.979;0.987|0.128	T|T	0.55392|0.55392	-0.8148|-0.8148	10|9	0.48119|0.87932	T|D	0.1|0	.|.	16.3315|16.3315	0.83023|0.83023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	389;432;302;363;403|257	P34998-4;P34998;B3TIK8;P34998-3;P34998-2|B4DMR5	.;CRFR1_HUMAN;.;.;.|.	H|M	228;432;403;389;363|257	ENSP00000293493:R228H;ENSP00000381333:R432H;ENSP00000326060:R403H;ENSP00000344068:R363H|ENSP00000340522:V257M	ENSP00000293493:R228H|ENSP00000340522:V257M	R|V	+|+	2|1	0|0	CRHR1|CRHR1	41267871|41267871	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.984000|0.984000	0.73092|0.73092	9.842000|9.842000	0.99487|0.99487	2.451000|2.451000	0.82905|0.82905	0.555000|0.555000	0.69702|0.69702	CGT|GTG		0.642	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			13	62	0	0	0	1	0	13	62				
PLA2G4F	255189	broad.mit.edu	37	15	42434788	42434788	+	Missense_Mutation	SNP	C	C	T	rs373084106		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr15:42434788C>T	ENST00000382396.4	-	19	2353	c.2267G>A	c.(2266-2268)cGc>cAc	p.R756H	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.R758H			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	756	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AATGGGGGAGCGGGGGTCCTC	0.632																																						ENST00000397272.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(2272-2274)cGc>cAc		phospholipase A2, group IVF		C	HIS/ARG	0,4406		0,0,2203	71.0	66.0	68.0		2267	3.0	0.4	15		68	1,8597	1.2+/-3.3	0,1,4298	no	missense	PLA2G4F	NM_213600.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	756/850	42434788	1,13003	2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42434788C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.2267G>A	15.37:g.42434788C>T	ENSP00000371833:p.Arg756His					PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R756H	p.R758H	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	19	2364	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	756			PLA2c.		Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.2273G>A	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	C	9.487	1.099660	0.20552	0.0	1.16E-4	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000443825	T;T	0.04275	3.66;3.66	4.88	2.99	0.34606	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.921572	0.09182	N	0.837312	T	0.04182	0.0116	L	0.27053	0.805	0.09310	N	1	P;B;P	0.51653	0.947;0.038;0.947	B;B;B	0.39660	0.306;0.018;0.306	T	0.44636	-0.9315	10	0.46703	T	0.11	-4.8176	8.0419	0.30526	0.0:0.6939:0.0:0.3061	.	543;758;756	A2RRC4;C9J281;Q68DD2	.;.;PA24F_HUMAN	H	752;758;756;756	ENSP00000380442:R758H;ENSP00000371833:R756H	ENSP00000290497:R752H	R	-	2	0	PLA2G4F	40222080	0.002000	0.14202	0.394000	0.26270	0.264000	0.26372	0.316000	0.19469	0.783000	0.33636	0.655000	0.94253	CGC		0.632	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		18	45	0	0	0	1	0	18	45				
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																						ENST00000502400.1																			0																																																			101927237							g.chr4:68311853_68311855delGAG																													4.37:g.68311862_68311864delGAG														0	34	-									RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361926.2			3	3						3	3	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|NRM_ENST00000470733.1_5'Flank	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.650	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		10	95						10	95	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080|rs190692498		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AAAGCAATGTGGATAAAGGGAC	0.431																																						ENST00000411500.1																			0																																																			3128							g.chr6:32523362_32523363insGATA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523363_32523366dupGATA								NR_001298.1						0	458	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		4	9						4	9	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-	rs376935907		TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr7:65150816delA	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCC	0.463																																						ENST00000430126.2																			0																																																			644619							g.chr7:65150816delA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150816delA														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.463	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		4	5						4	5	---	---	---	---
OR1J2	26740	broad.mit.edu	37	9	125273990	125273991	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr9:125273990_125273991delCT	ENST00000335302.5	+	1	910_911	c.910_911delCT	c.(910-912)ctcfs	p.L304fs		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCTTGGGAAACTCTTCAGTAGA	0.391																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(910-912)cfs		olfactory receptor, family 1, subfamily J, member 2																																				SO:0001589	frameshift_variant	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273990_125273991delCT		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.910_911delCT	9.37:g.125273992_125273993delCT	ENSP00000335575:p.Leu304fs						p.L304fs	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	910_911	+			304					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Frame_Shift_Del	DEL	ENST00000335302.5	37	c.910_911delCT	CCDS35121.1																																																																																				0.391	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			26	90						26	90	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69921514	69921515	+	Intron	DEL	AG	AG	-			TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr10:69921514_69921515delAG	ENST00000358913.5	+	8	1971				MYPN_ENST00000540630.1_Intron|MYPN_ENST00000373675.3_Frame_Shift_Del_p.D498fs|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin						sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGCCAGGTAAAGATGATTTCAA	0.287																																						ENST00000373675.3																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(1486-1491)aaatfs		myopalladin																																				SO:0001627	intron_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69921514_69921515delAG	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.1483+5AG>-	10.37:g.69921514_69921515delAG						MYPN_ENST00000354393.2_Intron|MYPN_ENST00000358913.5_Intron|MYPN_ENST00000540630.1_Intron	p.KD496fs			Q86TC9	MYPN_HUMAN			8	1717_1718	+			0			Ig-like 2.|Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Frame_Shift_Del	DEL	ENST00000358913.5	37	c.1488_1489delAG	CCDS7275.1																																																																																				0.287	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		7	57						7	57	---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48458895	48458896	+	Frame_Shift_Ins	INS	-	-	T	rs192825742	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr12:48458895_48458896insT	ENST00000004980.5	-	12	1705_1706	c.1227_1228insA	c.(1225-1230)aaaggtfs	p.G410fs	SENP1_ENST00000448372.1_Frame_Shift_Ins_p.G410fs|SENP1_ENST00000551330.1_Frame_Shift_Ins_p.G410fs|SENP1_ENST00000549518.1_Frame_Shift_Ins_p.G410fs|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549595.1_Frame_Shift_Ins_p.G410fs			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	410					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)	p.G410fs*3(1)|p.G410fs*4(1)		large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AATTTATGACCTTTTTTTTGTG	0.337																																						ENST00000004980.5																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.G410fs*3(1)|p.G410fs*4(1)	large_intestine(1)|pancreas(1)	large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7						c.(1225-1230)aagtcafs		SUMO1/sentrin specific peptidase 1																																				SO:0001589	frameshift_variant	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48458895_48458896insT	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.1228dupA	12.37:g.48458903_48458903dupT	ENSP00000004980:p.Gly410fs					SENP1_ENST00000448372.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000551330.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000549595.1_Frame_Shift_Ins_p.S410fs|SENP1_ENST00000549518.1_Frame_Shift_Ins_p.S410fs	p.S410fs			Q9P0U3	SENP1_HUMAN			12	1705_1706	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	410					A8K7P5|Q86XC8	Frame_Shift_Ins	INS	ENST00000004980.5	37	c.1227_1228insA	CCDS44868.2																																																																																				0.337	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		13	29						13	29	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120	byFrequency	TCGA-CQ-7063-01A-11D-2394-08	TCGA-CQ-7063-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd5390d-c251-48ec-9235-11b49956a23c	6935113b-655c-4904-88cd-38a5965d83ef	g.chr16:29113498delT	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							AGGAGGTGGAttttttttttc	0.542													|||unknown(NO_COVERAGE)	2145	0.428315	0.5507	0.4856	5008	,	,		13214	0.248		0.4334	False		,,,				2504	0.4029					ENST00000564580.1																			0																																																			653390							g.chr16:29113498delT																													16.37:g.29113498delT														0	1360	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.542	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			3	6						3	6	---	---	---	---
