#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	139	0	0	0	1	0	4	139				
PLCB4	5332	broad.mit.edu	37	20	9402051	9402051	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr20:9402051G>C	ENST00000378493.1	+	23	2241	c.2226G>C	c.(2224-2226)atG>atC	p.M742I	PLCB4_ENST00000378501.2_Missense_Mutation_p.M742I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M742I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M742I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M754I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.M754I			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	742	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAACTCGCATGGTTATGAATA	0.403																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(2224-2226)atG>atC		phospholipase C, beta 4							142.0	126.0	131.0					20																	9402051		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9402051G>C		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2226G>C	20.37:g.9402051G>C	ENSP00000367754:p.Met742Ile					PLCB4_ENST00000334005.3_Missense_Mutation_p.M742I|PLCB4_ENST00000278655.4_Missense_Mutation_p.M742I|PLCB4_ENST00000378473.3_Missense_Mutation_p.M754I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M754I|PLCB4_ENST00000378493.1_Missense_Mutation_p.M742I|PLCB4_ENST00000492632.1_3'UTR	p.M742I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			23	2241	+			742			C2.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2226G>C	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.058661	0.36277	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.8	5.8	0.92144	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	N	0.01505	-0.83	0.80722	D	1	B;B;B;B	0.33694	0.073;0.051;0.421;0.097	B;B;B;B	0.31191	0.028;0.004;0.125;0.018	T	0.46965	-0.9153	10	0.14252	T	0.57	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	754;589;742;742	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	I	742;754;742;742;742;590	ENSP00000334105:M742I;ENSP00000367734:M754I;ENSP00000278655:M742I;ENSP00000367754:M742I;ENSP00000367762:M742I;ENSP00000390616:M590I	ENSP00000278655:M742I	M	+	3	0	PLCB4	9350051	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.869000	0.99810	2.758000	0.94735	0.563000	0.77884	ATG		0.403	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			6	91	0	0	0	1	0	6	91				
RETSAT	54884	broad.mit.edu	37	2	85570403	85570403	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr2:85570403G>A	ENST00000295802.4	-	11	1907	c.1795C>T	c.(1795-1797)Ctt>Ttt	p.L599F	RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.L538F|RETSAT_ENST00000475624.2_5'Flank	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	599					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTAGAATCAAGATTCTTAAGG	0.532																																						ENST00000295802.4																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(1795-1797)Ctt>Ttt		retinol saturase (all-trans-retinol 13,14-reductase)	Vitamin A(DB00162)						100.0	104.0	102.0					2																	85570403		2203	4300	6503	SO:0001583	missense	54884				retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	g.chr2:85570403G>A	AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1795C>T	2.37:g.85570403G>A	ENSP00000295802:p.Leu599Phe					RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.L538F	p.L599F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN			11	1907	-			599					A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Missense_Mutation	SNP	ENST00000295802.4	37	c.1795C>T	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.597211	0.28445	.	.	ENSG00000042445	ENST00000295802;ENST00000457495	T;T	0.28069	1.63;1.7	4.49	3.6	0.41247	.	0.146904	0.46758	D	0.000264	T	0.30417	0.0764	L	0.55834	1.745	0.80722	D	1	P;P;P	0.48911	0.915;0.915;0.917	P;P;P	0.45971	0.499;0.499;0.449	T	0.06162	-1.0842	10	0.56958	D	0.05	-13.3923	6.3233	0.21229	0.0989:0.1894:0.7117:0.0	.	538;538;599	G5E9N3;B4DKE1;Q6NUM9	.;.;RETST_HUMAN	F	599;538	ENSP00000295802:L599F;ENSP00000405040:L538F	ENSP00000295802:L599F	L	-	1	0	RETSAT	85423914	0.013000	0.17824	0.046000	0.18839	0.092000	0.18411	0.923000	0.28757	1.226000	0.43582	-0.305000	0.09177	CTT		0.532	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750		4	88	0	0	0	1	0	4	88				
ADAM11	4185	broad.mit.edu	37	17	42852594	42852594	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr17:42852594G>C	ENST00000200557.6	+	15	1404	c.1235G>C	c.(1234-1236)cGc>cCc	p.R412P	ADAM11_ENST00000535346.1_Missense_Mutation_p.R212P	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	412	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				TACCTGCCCCGCAAGTTCTCG	0.642											OREG0024464	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000200557.6																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1234-1236)cGc>cCc		ADAM metallopeptidase domain 11							88.0	85.0	86.0					17																	42852594		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42852594G>C	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1235G>C	17.37:g.42852594G>C	ENSP00000200557:p.Arg412Pro		OREG0024464	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	911	ADAM11_ENST00000535346.1_Missense_Mutation_p.R212P	p.R412P	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN			15	1404	+		Prostate(33;0.0959)	412			Peptidase M12B.		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.1235G>C	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952290	0.73787	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.09630	2.96;2.96	4.77	3.73	0.42828	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.125415	0.53938	D	0.000054	T	0.31702	0.0805	M	0.88241	2.94	0.49299	D	0.999771	D;P	0.58268	0.982;0.937	D;P	0.64144	0.922;0.826	T	0.03945	-1.0990	10	0.52906	T	0.07	.	8.1221	0.30978	0.1898:0.0:0.8102:0.0	.	212;412	B4DKD2;O75078	.;ADA11_HUMAN	P	412;212;312	ENSP00000200557:R412P;ENSP00000443773:R212P	ENSP00000200557:R412P	R	+	2	0	ADAM11	40208120	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.588000	0.53964	2.479000	0.83701	0.549000	0.68633	CGC		0.642	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		21	56	0	0	0	1	0	21	56				
ARSH	347527	broad.mit.edu	37	X	2936617	2936617	+	Silent	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chrX:2936617C>T	ENST00000381130.2	+	5	807	c.807C>T	c.(805-807)caC>caT	p.H269H		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	269					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCTTCCTGCACGTACATACTC	0.398																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(805-807)caC>caT		arylsulfatase family, member H							124.0	114.0	117.0					X																	2936617		2203	4300	6503	SO:0001819	synonymous_variant	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2936617C>T	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.807C>T	X.37:g.2936617C>T							p.H269H	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			5	807	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	269						Silent	SNP	ENST00000381130.2	37	c.807C>T	CCDS35198.1																																																																																				0.398	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		21	20	0	0	0	1	0	21	20				
VPS13D	55187	broad.mit.edu	37	1	12446347	12446347	+	Missense_Mutation	SNP	A	A	G	rs144706588		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr1:12446347A>G	ENST00000358136.3	+	60	11718	c.11588A>G	c.(11587-11589)cAg>cGg	p.Q3863R	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3838R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACTATACACAGCTGGCAACC	0.438																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(11587-11589)cAg>cGg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							134.0	130.0	131.0					1																	12446347		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12446347A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11588A>G	1.37:g.12446347A>G	ENSP00000350854:p.Gln3863Arg					VPS13D_ENST00000356315.4_Missense_Mutation_p.Q3838R|VPS13D_ENST00000496628.1_3'UTR	p.Q3863R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	60	11718	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3862						Missense_Mutation	SNP	ENST00000358136.3	37	c.11588A>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.640|8.640	0.895848|0.895848	0.17686|0.17686	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.52057|.	0.68;0.68|.	6.05|6.05	4.93|4.93	0.64822|0.64822	.|.	0.279681|.	0.42420|.	D|.	0.000712|.	T|T	0.26011|0.26011	0.0634|0.0634	N|N	0.01576|0.01576	-0.805|-0.805	0.80722|0.80722	D|D	1|1	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.08055|.	0.003;0.002|.	T|T	0.13469|0.13469	-1.0508|-1.0508	10|5	0.21540|.	T|.	0.41|.	.|.	11.9455|11.9455	0.52926|0.52926	0.9329:0.0:0.0671:0.0|0.9329:0.0:0.0671:0.0	.|.	3838;3862|.	Q5THJ4-2;Q5THJ4|.	.;VP13D_HUMAN|.	R|G	3838;3863|2685	ENSP00000348666:Q3838R;ENSP00000350854:Q3863R|.	ENSP00000348666:Q3838R|.	Q|S	+|+	2|1	0|0	VPS13D|VPS13D	12368934|12368934	0.984000|0.984000	0.35163|0.35163	0.985000|0.985000	0.45067|0.45067	0.989000|0.989000	0.77384|0.77384	4.089000|4.089000	0.57685|0.57685	1.126000|1.126000	0.42016|0.42016	0.533000|0.533000	0.62120|0.62120	CAG|AGC		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		27	51	0	0	0	1	0	27	51				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			4	57	0	0	0	1	0	4	57				
DMRT2	10655	broad.mit.edu	37	9	1057164	1057164	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr9:1057164T>C	ENST00000358146.2	+	3	1577	c.1577T>C	c.(1576-1578)tTt>tCt	p.F526S	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.F526S|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.F526S			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	526					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AAAGACCTTTTTGTAGCCAAA	0.403																																						ENST00000382251.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(1576-1578)tTt>tCt		doublesex and mab-3 related transcription factor 2							83.0	84.0	84.0					9																	1057164		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1057164T>C	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.1577T>C	9.37:g.1057164T>C	ENSP00000350865:p.Phe526Ser					DMRT2_ENST00000302441.6_Missense_Mutation_p.F526S|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.F526S	p.F526S			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1906	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	526					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.1577T>C	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	T	15.32	2.797235	0.50208	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.30714	1.52;1.52;1.52	6.06	4.9	0.64082	.	0.102481	0.64402	D	0.000002	T	0.42966	0.1226	L	0.50333	1.59	0.53688	D	0.999977	D;D	0.67145	0.996;0.98	P;P	0.56216	0.794;0.773	T	0.36359	-0.9751	10	0.87932	D	0	-7.8489	13.0711	0.59061	0.0:0.0:0.1343:0.8657	.	526;370	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	S	526	ENSP00000371686:F526S;ENSP00000305785:F526S;ENSP00000350865:F526S	ENSP00000305785:F526S	F	+	2	0	DMRT2	1047164	0.999000	0.42202	0.990000	0.47175	0.995000	0.86356	3.061000	0.49963	1.078000	0.41014	0.528000	0.53228	TTT		0.403	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		52	57	0	0	0	1	0	52	57				
LARGE	9215	broad.mit.edu	37	22	34046652	34046652	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr22:34046652C>T	ENST00000354992.2	-	4	680	c.109G>A	c.(109-111)Gga>Aga	p.G37R	LARGE_ENST00000397394.2_Missense_Mutation_p.G37R|LARGE_ENST00000437602.2_Missense_Mutation_p.G37R|LARGE_ENST00000337431.2_Missense_Mutation_p.G37R|LARGE_ENST00000402320.1_Missense_Mutation_p.G37R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	37					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACGGGCTTTCCATCTGGGGAG	0.617																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(109-111)Gga>Aga		like-glycosyltransferase							24.0	25.0	24.0					22																	34046652		2179	4264	6443	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046652C>T	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.109G>A	22.37:g.34046652C>T	ENSP00000347088:p.Gly37Arg					LARGE_ENST00000402320.1_Missense_Mutation_p.G37R|LARGE_ENST00000397394.2_Missense_Mutation_p.G37R|LARGE_ENST00000437602.2_Missense_Mutation_p.G37R|LARGE_ENST00000337431.2_Missense_Mutation_p.G37R|LARGE_ENST00000462606.1_5'UTR	p.G37R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			4	680	-		Lung NSC(1;0.219)	37					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.109G>A	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854107	0.91355	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071;ENST00000432776;ENST00000423375	T;T;T;T;T;T;T;T	0.53640	1.1;1.09;1.1;1.09;0.61;1.36;1.36;1.39	5.84	5.84	0.93424	.	0.125901	0.53938	D	0.000048	T	0.56232	0.1971	N	0.19112	0.55	0.80722	D	1	D;D;P	0.59767	0.977;0.986;0.79	P;D;P	0.65874	0.871;0.939;0.459	T	0.59397	-0.7462	10	0.62326	D	0.03	0.8925	20.1533	0.98095	0.0:1.0:0.0:0.0	.	37;37;37	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	R	37	ENSP00000347088:G37R;ENSP00000336636:G37R;ENSP00000380549:G37R;ENSP00000385223:G37R;ENSP00000388544:G37R;ENSP00000396277:G37R;ENSP00000415546:G37R;ENSP00000389605:G37R	ENSP00000336636:G37R	G	-	1	0	LARGE	32376652	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.277000	0.65586	2.758000	0.94735	0.655000	0.94253	GGA		0.617	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		5	28	0	0	0	1	0	5	28				
PYGL	5836	broad.mit.edu	37	14	51376765	51376765	+	Silent	SNP	C	C	A	rs531973926	byFrequency	TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr14:51376765C>A	ENST00000216392.7	-	17	2357	c.2025G>T	c.(2023-2025)tcG>tcT	p.S675S	PYGL_ENST00000532462.1_Silent_p.S675S|PYGL_ENST00000544180.2_Silent_p.S641S|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	675					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	TGCCTGTCCCCGAGGCTTCGG	0.478																																						ENST00000216392.7																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2023-2025)tcG>tcT		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						154.0	142.0	146.0					14																	51376765		2203	4300	6503	SO:0001819	synonymous_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51376765C>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2025G>T	14.37:g.51376765C>A						PYGL_ENST00000532462.1_Silent_p.S675S|PYGL_ENST00000544180.2_Silent_p.S641S	p.S675S	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN			17	2357	-	all_epithelial(31;0.00825)|Breast(41;0.148)		675					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	c.2025G>T	CCDS32080.1																																																																																				0.478	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		9	127	1	0	2.52707e-12	1	2.63938e-12	9	127				
BMS1P20	96610	broad.mit.edu	37	22	22662971	22662971	+	RNA	SNP	A	A	G	rs370670957		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr22:22662971A>G	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TGTAAGTAAAATTCACTTTGG	0.323																																						ENST00000426066.1																			0																																																			0							g.chr22:22662971A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22662971A>G								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.323	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	16	0	0	0	1	0	3	16				
KRT19	3880	broad.mit.edu	37	17	39680513	39680513	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr17:39680513T>A	ENST00000361566.3	-	5	890	c.830A>T	c.(829-831)gAa>gTa	p.E277V	KRT15_ENST00000254043.3_5'Flank|KRT15_ENST00000393976.2_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	277	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCGGTTCAATTCTTCAGTCTG	0.572																																						ENST00000361566.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12						c.(829-831)gAa>gTa		keratin 19							57.0	60.0	59.0					17																	39680513		2203	4300	6503	SO:0001583	missense	3880							g.chr17:39680513T>A		CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.830A>T	17.37:g.39680513T>A	ENSP00000355124:p.Glu277Val						p.E277V	NM_002276.4	NP_002267.2					5	890	-		Breast(137;0.00038)						B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	ENST00000361566.3	37	c.830A>T	CCDS11399.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.233794	0.58886	.	.	ENSG00000171345	ENST00000361566	D	0.89939	-2.59	5.25	1.48	0.22813	Prefoldin (1);Filament (1);	0.449327	0.18729	N	0.132800	D	0.87908	0.6296	M	0.78456	2.415	0.41517	D	0.988371	B;B	0.33919	0.076;0.432	B;B	0.40940	0.046;0.344	D	0.85583	0.1241	10	0.87932	D	0	.	4.0528	0.09803	0.1257:0.071:0.1309:0.6723	.	440;277	B4DE59;P08727	.;K1C19_HUMAN	V	277	ENSP00000355124:E277V	ENSP00000355124:E277V	E	-	2	0	KRT19	36934039	0.000000	0.05858	0.998000	0.56505	0.001000	0.01503	0.405000	0.21015	0.817000	0.34445	-0.503000	0.04515	GAA		0.572	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257285.1	NM_002276		4	45	0	0	0	1	0	4	45				
GABBR2	9568	broad.mit.edu	37	9	101133846	101133846	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr9:101133846G>A	ENST00000259455.2	-	12	2129	c.1670C>T	c.(1669-1671)aCc>aTc	p.T557I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	557					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GAGAATCCAGGTCCTGACCTA	0.488																																						ENST00000259455.2																		NOTCH1_ENST00000277541/GABBR2(2)	0				breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(1669-1671)aCc>aTc		gamma-aminobutyric acid (GABA) B receptor, 2	Baclofen(DB00181)						86.0	82.0	83.0					9																	101133846		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101133846G>A	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1670C>T	9.37:g.101133846G>A	ENSP00000259455:p.Thr557Ile						p.T557I	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN			12	2129	-		Acute lymphoblastic leukemia(62;0.0527)	557					O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.1670C>T	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703357	0.68501	.	.	ENSG00000136928	ENST00000259455	D	0.87966	-2.32	5.42	5.42	0.78866	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88698	0.6507	N	0.20328	0.56	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.89503	0.3765	10	0.49607	T	0.09	-36.6005	16.7142	0.85393	0.0:0.0:1.0:0.0	.	557	O75899	GABR2_HUMAN	I	557	ENSP00000259455:T557I	ENSP00000259455:T557I	T	-	2	0	GABBR2	100173667	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.932000	0.92897	2.539000	0.85634	0.655000	0.94253	ACC		0.488	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			10	17	0	0	0	1	0	10	17				
SIRPB1	10326	broad.mit.edu	37	20	1559027	1559027	+	Silent	SNP	G	G	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr20:1559027G>A	ENST00000381605.4	-	2	454	c.390C>T	c.(388-390)gaC>gaT	p.D130D	SIRPB1_ENST00000381603.3_Silent_p.D130D|SIRPB1_ENST00000262929.5_Silent_p.D129D|RP4-576H24.4_ENST00000564763.1_Silent_p.D130D	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	130	Ig-like V-type.				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						TAAACTCCACGTCGTCAGGGC	0.527																																						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.(388-390)gaC>gaT		signal-regulatory protein beta 1							156.0	136.0	143.0					20																	1559027		2200	4243	6443	SO:0001819	synonymous_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1559027G>A	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.390C>T	20.37:g.1559027G>A						SIRPB1_ENST00000381603.3_Silent_p.D130D|RP4-576H24.4_ENST00000564763.1_Silent_p.D130D|SIRPB1_ENST00000262929.5_Silent_p.D129D	p.D130D	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN			2	454	-			130			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.390C>T	CCDS13019.1																																																																																				0.527	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		8	124	0	0	0	1	0	8	124				
ZNF790	388536	broad.mit.edu	37	19	37310530	37310530	+	Missense_Mutation	SNP	G	G	A	rs200810061		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr19:37310530G>A	ENST00000356725.4	-	5	836	c.716C>T	c.(715-717)tCg>tTg	p.S239L	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	239					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTAAGACTCGAACGTAAACT	0.348																																						ENST00000356725.4																			0				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32						c.(715-717)tCg>tTg		zinc finger protein 790		G	LEU/SER,LEU/SER,LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	57.0	59.0	58.0		716,716,716,716	1.9	0.0	19		58	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF790	NM_001242800.1,NM_001242801.1,NM_001242802.1,NM_206894.3	145,145,145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	239/637,239/637,239/637,239/637	37310530	1,13005	2203	4300	6503	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37310530G>A	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.716C>T	19.37:g.37310530G>A	ENSP00000349161:p.Ser239Leu					CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	p.S239L	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	836	-	Esophageal squamous(110;0.183)		239						Missense_Mutation	SNP	ENST00000356725.4	37	c.716C>T	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102064	0.37048	2.27E-4	0.0	ENSG00000197863	ENST00000356725	T	0.07444	3.19	3.04	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13543	0.0328	M	0.83852	2.665	0.09310	N	1	D	0.57899	0.981	B	0.44133	0.442	T	0.21586	-1.0241	9	0.72032	D	0.01	.	5.6772	0.17755	0.123:0.2043:0.6726:0.0	.	239	Q6PG37	ZN790_HUMAN	L	239	ENSP00000349161:S239L	ENSP00000349161:S239L	S	-	2	0	ZNF790	42002370	0.000000	0.05858	0.019000	0.16419	0.759000	0.43091	-0.602000	0.05680	1.694000	0.51137	0.491000	0.48974	TCG		0.348	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		29	43	0	0	0	1	0	29	43				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	49	0	0	0	1	0	4	49				
NALCN	259232	broad.mit.edu	37	13	101890183	101890183	+	Missense_Mutation	SNP	A	A	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr13:101890183A>T	ENST00000251127.6	-	12	1438	c.1357T>A	c.(1357-1359)Ttc>Atc	p.F453I	NALCN_ENST00000376196.3_Missense_Mutation_p.F453I|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	453					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTAGTTCGAATTTGTGGAGA	0.348																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(1357-1359)Ttc>Atc		sodium leak channel, non-selective							164.0	175.0	172.0					13																	101890183		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101890183A>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1357T>A	13.37:g.101890183A>T	ENSP00000251127:p.Phe453Ile					NALCN_ENST00000376196.3_Missense_Mutation_p.F453I|NALCN_ENST00000470333.1_5'UTR	p.F453I	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			12	1438	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		453					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.1357T>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189626	0.78789	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98362	-4.89;-4.89	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.999;0.999	D	0.99852	1.1073	10	0.87932	D	0	.	15.4116	0.74929	1.0:0.0:0.0:0.0	.	453;453;453	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	I	453	ENSP00000251127:F453I;ENSP00000365367:F453I	ENSP00000251127:F453I	F	-	1	0	NALCN	100688184	1.000000	0.71417	0.995000	0.50966	0.479000	0.33129	8.904000	0.92590	2.096000	0.63516	0.402000	0.26972	TTC		0.348	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		4	172	0	0	0	1	0	4	172				
TMEM180	79847	broad.mit.edu	37	10	104232673	104232673	+	Silent	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr10:104232673C>T	ENST00000238936.4	+	7	1128	c.891C>T	c.(889-891)gaC>gaT	p.D297D	TMEM180_ENST00000366277.2_Silent_p.D26D	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	297						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTTGTCCGACCATATCTCCC	0.532																																						ENST00000238936.4																			0				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13						c.(889-891)gaC>gaT		transmembrane protein 180							241.0	189.0	206.0					10																	104232673		2203	4300	6503	SO:0001819	synonymous_variant	79847					integral to membrane		g.chr10:104232673C>T	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.891C>T	10.37:g.104232673C>T						TMEM180_ENST00000366277.2_Silent_p.D26D	p.D297D	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	7	1128	+		Colorectal(252;0.122)	297					Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Silent	SNP	ENST00000238936.4	37	c.891C>T	CCDS7535.1																																																																																				0.532	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		8	112	0	0	0	1	0	8	112				
NOTCH4	4855	broad.mit.edu	37	6	32188018	32188018	+	Silent	SNP	G	G	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr6:32188018G>A	ENST00000375023.3	-	7	1341	c.1203C>T	c.(1201-1203)tgC>tgT	p.C401C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	401	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATCCCCATGGCACGGCTGGC	0.622																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1201-1203)tgC>tgT		notch 4							71.0	71.0	71.0					6																	32188018		2203	4300	6503	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188018G>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1203C>T	6.37:g.32188018G>A							p.C401C	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			7	1341	-			401			EGF-like 10.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	ENST00000375023.3	37	c.1203C>T	CCDS34420.1																																																																																				0.622	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			3	37	0	0	0	1	0	3	37				
TP53	7157	broad.mit.edu	37	17	7577126	7577126	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr17:7577126T>A	ENST00000269305.4	-	8	1001	c.812A>T	c.(811-813)gAg>gTg	p.E271V	TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E271V|TP53_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E271V	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	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(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)	AACACGCACCTCAAAGCTGTT	0.532		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"""		35	Substitution - Missense(10)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(6)|Unknown(2)|Substitution - Nonsense(1)	p.0?(8)|p.E271V(6)|p.E271G(3)|p.?(2)|p.E271fs*74(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.E271*(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271_R273delEVR(1)	breast(5)|central_nervous_system(4)|urinary_tract(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(2)|liver(2)|salivary_gland(1)|skin(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	CM942136	TP53	M		c.(811-813)gAg>gTg	Other conserved DNA damage response genes	tumor protein p53							60.0	52.0	55.0					17																	7577126		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.chr17:7577126T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.812A>T	17.37:g.7577126T>A	ENSP00000269305:p.Glu271Val	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_ENST00000455263.2_Missense_Mutation_p.E271V|TP53_ENST00000359597.4_Missense_Mutation_p.E271V|TP53_ENST00000269305.4_Missense_Mutation_p.E271V|TP53_ENST00000445888.2_Missense_Mutation_p.E271V|TP53_ENST00000413465.2_Intron	p.E271V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	944	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.812A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727540	0.89390	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	0.999;0.992;0.999;1.0	D	0.96447	0.9331	10	0.87932	D	0	-38.0695	12.9367	0.58319	0.0:0.0:0.0:1.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	271;271;271;271;271;260;139	ENSP00000352610:E271V;ENSP00000269305:E271V;ENSP00000398846:E271V;ENSP00000391127:E271V;ENSP00000391478:E271V;ENSP00000425104:E139V	ENSP00000269305:E271V	E	-	2	0	TP53	7517851	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.802000	0.85969	2.154000	0.67381	0.379000	0.24179	GAG		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	3	0	0	0	1	0	12	3				
COL14A1	7373	broad.mit.edu	37	8	121237425	121237425	+	Silent	SNP	A	A	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr8:121237425A>T	ENST00000297848.3	+	15	2106	c.1836A>T	c.(1834-1836)tcA>tcT	p.S612S	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Silent_p.S517S|COL14A1_ENST00000309791.4_Silent_p.S612S|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAGGACAGTCAGAGCCTCTGA	0.418																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1834-1836)tcA>tcT		collagen, type XIV, alpha 1							76.0	75.0	76.0					8																	121237425		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121237425A>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1836A>T	8.37:g.121237425A>T						COL14A1_ENST00000309791.4_Silent_p.S612S|COL14A1_ENST00000247781.3_Silent_p.S517S|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR	p.S612S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		15	2106	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		612			Fibronectin type-III 4.			Silent	SNP	ENST00000297848.3	37	c.1836A>T	CCDS34938.1																																																																																				0.418	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		37	38	0	0	0	1	0	37	38				
ZNF182	7569	broad.mit.edu	37	X	47835730	47835730	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chrX:47835730T>C	ENST00000396965.1	-	7	2106	c.1756A>G	c.(1756-1758)Act>Gct	p.T586A	ZNF182_ENST00000376943.3_Missense_Mutation_p.T567A|ZNF182_ENST00000305127.6_Missense_Mutation_p.T586A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	586					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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGATGTACAGTGAATGTTGAC	0.428																																						ENST00000396965.1																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						c.(1756-1758)Act>Gct		zinc finger protein 182							123.0	103.0	109.0					X																	47835730		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47835730T>C	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.1756A>G	X.37:g.47835730T>C	ENSP00000380165:p.Thr586Ala					ZNF182_ENST00000305127.6_Missense_Mutation_p.T586A|ZNF182_ENST00000376943.3_Missense_Mutation_p.T567A	p.T586A	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN			7	2106	-			586					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.1756A>G	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	T	12.02	1.813516	0.32053	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06849	3.25;3.25;3.25	4.86	4.86	0.63082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12008	0.0292	N	0.20881	0.62	0.27723	N	0.945045	B;P;P	0.41947	0.444;0.766;0.625	B;P;B	0.53988	0.374;0.739;0.192	T	0.20075	-1.0286	9	0.21540	T	0.41	.	11.4917	0.50385	0.0:0.0:0.0:1.0	.	566;567;586	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	A	567;586;586	ENSP00000366142:T567A;ENSP00000380165:T586A;ENSP00000306351:T586A	ENSP00000306351:T586A	T	-	1	0	ZNF182	47720674	0.001000	0.12720	1.000000	0.80357	0.793000	0.44817	0.926000	0.28804	1.916000	0.55485	0.441000	0.28932	ACT		0.428	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		13	54	0	0	0	1	0	13	54				
PHLPP2	23035	broad.mit.edu	37	16	71718413	71718413	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr16:71718413G>A	ENST00000568954.1	-	5	1079	c.701C>T	c.(700-702)gCc>gTc	p.A234V	PHLPP2_ENST00000356272.3_Missense_Mutation_p.A234V|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A269V|PHLPP2_ENST00000393524.2_Missense_Mutation_p.A234V|PHLPP2_ENST00000360429.3_Missense_Mutation_p.A234V			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	234	PH.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGGTACTCGGCCAAAGTCTC	0.517																																						ENST00000393524.2																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(700-702)gCc>gTc		PH domain and leucine rich repeat protein phosphatase 2							102.0	100.0	100.0					16																	71718413		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71718413G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.701C>T	16.37:g.71718413G>A	ENSP00000457991:p.Ala234Val					PHLPP2_ENST00000360429.3_Missense_Mutation_p.A234V|PHLPP2_ENST00000356272.3_Missense_Mutation_p.A234V|PHLPP2_ENST00000568954.1_Missense_Mutation_p.A234V|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A269V	p.A234V			Q6ZVD8	PHLP2_HUMAN			4	1434	-			234			PH.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.701C>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380488	0.82792	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.32515	1.45;1.45;1.45	4.97	4.97	0.65823	Pleckstrin homology-type (1);	0.107907	0.64402	D	0.000006	T	0.41511	0.1162	L	0.44542	1.39	0.45554	D	0.998504	D;D	0.67145	0.996;0.992	P;P	0.61070	0.883;0.703	T	0.06303	-1.0834	10	0.27785	T	0.31	-8.2737	13.3471	0.60580	0.0:0.1582:0.8418:0.0	.	234;234	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	V	41;234;234;234;234	ENSP00000353610:A234V;ENSP00000348611:A234V;ENSP00000377159:A234V	ENSP00000299971:A41V	A	-	2	0	PHLPP2	70275914	1.000000	0.71417	0.997000	0.53966	0.922000	0.55478	7.771000	0.85420	2.450000	0.82876	0.561000	0.74099	GCC		0.517	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		3	50	0	0	0	1	0	3	50				
CLPTM1L	81037	broad.mit.edu	37	5	1322992	1322992	+	Splice_Site	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr5:1322992C>T	ENST00000320895.5	-	13	1572	c.1315G>A	c.(1315-1317)Ggg>Agg	p.G439R	CLPTM1L_ENST00000507807.1_Splice_Site_p.G270R|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Splice_Site_p.G403R	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	439					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G439W(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ATGGACTCACCGTTGACGAAG	0.438																																						ENST00000320895.5																			1	Substitution - Missense(1)	p.G439W(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.e13+1		CLPTM1-like							159.0	155.0	156.0					5																	1322992		2203	4300	6503	SO:0001630	splice_region_variant	81037				apoptosis	integral to membrane		g.chr5:1322992C>T	AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1315+1G>A	5.37:g.1322992C>T						CLPTM1L_ENST00000320927.6_Splice_Site_p.G403_splice|CLPTM1L_ENST00000507807.1_Splice_Site_p.G270_splice|CLPTM1L_ENST00000506641.1_5'UTR	p.G439_splice	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)	13	1572	-	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		439					D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Splice_Site	SNP	ENST00000320895.5	37	c.1315_splice	CCDS3862.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482845	0.63962	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.44881	0.91;0.95;0.94	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69094	-0.5236	10	0.25751	T	0.34	-23.3261	16.4979	0.84250	0.0:1.0:0.0:0.0	.	439;270	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	R	439;270;403	ENSP00000313854:G439R;ENSP00000423321:G270R;ENSP00000315196:G403R	ENSP00000313854:G439R	G	-	1	0	CLPTM1L	1375992	1.000000	0.71417	0.956000	0.39512	0.249000	0.25844	6.828000	0.75308	2.235000	0.73313	0.491000	0.48974	GGG		0.438	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253649.2	NM_030782	Missense_Mutation	43	96	0	0	0	1	0	43	96				
SDHAP1	255812	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	byFrequency	TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AATTTGTCAACATTCGTGACA	0.418																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195698262C>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698262C>G								NR_003264.2						0	1610	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.418	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	51	0	0	0	1	0	3	51				
CFAP45	25790	broad.mit.edu	37	1	159846529	159846529	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr1:159846529C>T	ENST00000368099.4	-	10	1233	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	CCDC19_ENST00000426543.2_Missense_Mutation_p.R305Q|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GCGCTTGGCCCGCAAGGCATC	0.512																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(913-915)cGg>cAg		coiled-coil domain containing 19							71.0	58.0	62.0					1																	159846529		2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159846529C>T																												ENST00000368099.4:c.1169G>A	1.37:g.159846529C>T	ENSP00000357079:p.Arg390Gln					CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R390Q	p.R305Q			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		10	1369	-	all_hematologic(112;0.0597)		390						Missense_Mutation	SNP	ENST00000368099.4	37	c.914G>A	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	c	32	5.110462	0.94292	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.13901	2.55;2.55	5.16	5.16	0.70880	.	0.176206	0.47093	D	0.000257	T	0.34571	0.0902	M	0.85197	2.74	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	T	0.15378	-1.0439	9	.	.	.	-27.7702	16.5314	0.84361	0.0:1.0:0.0:0.0	.	390	Q9UL16	CCD19_HUMAN	Q	390;305	ENSP00000357079:R390Q;ENSP00000403044:R305Q	.	R	-	2	0	CCDC19	158113153	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.399000	0.73248	2.571000	0.86741	0.486000	0.48141	CGG		0.512	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			7	42	0	0	0	1	0	7	42				
OR5A1	219982	broad.mit.edu	37	11	59211176	59211176	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr11:59211176C>T	ENST00000302030.2	+	1	560	c.535C>T	c.(535-537)Cac>Tac	p.H179Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CATCATCAACCACTTCTTCTG	0.542																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(535-537)Cac>Tac		olfactory receptor, family 5, subfamily A, member 1							257.0	252.0	254.0					11																	59211176		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211176C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.535C>T	11.37:g.59211176C>T	ENSP00000303096:p.His179Tyr						p.H179Y	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	560	+			179					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.535C>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695560	0.48202	.	.	ENSG00000172320	ENST00000302030	T	0.00183	8.6	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.00695	0.0023	M	0.83774	2.66	0.33510	D	0.590987	D	0.89917	1.0	D	0.97110	1.0	T	0.62364	-0.6870	10	0.72032	D	0.01	-27.4439	19.0362	0.92980	0.0:1.0:0.0:0.0	.	179	Q8NGJ0	OR5A1_HUMAN	Y	179	ENSP00000303096:H179Y	ENSP00000303096:H179Y	H	+	1	0	OR5A1	58967752	0.912000	0.30974	1.000000	0.80357	0.405000	0.30901	2.914000	0.48797	2.835000	0.97688	0.650000	0.86243	CAC		0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		89	156	0	0	0	1	0	89	156				
SCN5A	6331	broad.mit.edu	37	3	38591846	38591846	+	Missense_Mutation	SNP	G	G	T	rs199473338		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr3:38591846G>T	ENST00000333535.4	-	28	6166	c.6017C>A	c.(6016-6018)cCt>cAt	p.P2006H	SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000413689.1_Missense_Mutation_p.P2006H|SCN5A_ENST00000455624.2_Missense_Mutation_p.P1973H|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1988H|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000423572.2_Missense_Mutation_p.P2005H|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1988H|SCN5A_ENST00000443581.1_Missense_Mutation_p.P2005H|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1952H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	2006			P -> A (in LQT3; causes an increase of persistent sodium current and produces a depolarizing shift in voltage dependence of inactivation).		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCGGAGAAGGGGGGAAGTC	0.577																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(6016-6018)cCt>cAt		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						78.0	80.0	80.0					3																	38591846		2006	4181	6187	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591846G>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.6017C>A	3.37:g.38591846G>T	ENSP00000328968:p.Pro2006His					SCN5A_ENST00000455624.2_Missense_Mutation_p.P1973H|SCN5A_ENST00000451551.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000443581.1_Missense_Mutation_p.P2005H|SCN5A_ENST00000450102.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000449557.2_Missense_Mutation_p.P1952H|SCN5A_ENST00000423572.2_Missense_Mutation_p.P2005H|SCN5A_ENST00000333535.4_Missense_Mutation_p.P2006H|SCN5A_ENST00000414099.2_Missense_Mutation_p.P1988H|SCN5A_ENST00000425664.1_Missense_Mutation_p.P1988H	p.P2006H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	6210	-	Medulloblastoma(35;0.163)		2006		P -> A (in LQT3; causes an increase of persistent sodium current and produces a depolarizing shift in voltage dependence of inactivation).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.6017C>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	9.258	1.042541	0.19748	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95821	-3.72;-3.75;-3.75;-3.77;-3.75;-3.72;-3.75;-3.82;-3.77;-3.77	5.47	4.59	0.56863	.	0.775101	0.12097	N	0.499802	D	0.90848	0.7125	N	0.08118	0	0.09310	N	1	B;B;P;P;P;P	0.44006	0.371;0.371;0.614;0.731;0.824;0.564	B;B;B;B;P;B	0.48166	0.112;0.112;0.149;0.161;0.569;0.305	D	0.83966	0.0324	10	0.62326	D	0.03	.	6.9254	0.24412	0.2998:0.0:0.7002:0.0	.	1952;1973;1988;2006;2005;2006	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1988;2005;2006;1952;2005;1988;2006;1973;1952;1952	ENSP00000398962:P1988H;ENSP00000398266:P2005H;ENSP00000410257:P2006H;ENSP00000388797:P1952H;ENSP00000397915:P2005H;ENSP00000416634:P1988H;ENSP00000328968:P2006H;ENSP00000399524:P1973H;ENSP00000403355:P1952H;ENSP00000413996:P1952H	ENSP00000328968:P2006H	P	-	2	0	SCN5A	38566850	0.137000	0.22531	0.117000	0.21633	0.611000	0.37282	3.311000	0.51919	1.288000	0.44600	0.655000	0.94253	CCT		0.577	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		5	43	1	0	0.184627	1	0.184627	5	43				
BMI1	648	broad.mit.edu	37	10	22615874	22615874	+	Nonsense_Mutation	SNP	T	T	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr10:22615874T>A	ENST00000376663.3	+	3	673	c.168T>A	c.(166-168)tgT>tgA	p.C56*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.C199*	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	56					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTCCTATTTGTGATGTCCAAG	0.338																																						ENST00000376663.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						c.(166-168)tgT>tgA		BMI1 polycomb ring finger oncogene							165.0	174.0	171.0					10																	22615874		2203	4300	6503	SO:0001587	stop_gained	648							g.chr10:22615874T>A	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.168T>A	10.37:g.22615874T>A	ENSP00000365851:p.Cys56*					COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.C199*	p.C56*	NM_005180.8	NP_005171.4					3	673	+								Q16030|Q5T8Z3|Q96F37	Nonsense_Mutation	SNP	ENST00000376663.3	37	c.168T>A	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	T	33	5.249067	0.95305	.	.	ENSG00000168283	ENST00000417470;ENST00000376691;ENST00000376663;ENST00000442508;ENST00000456675;ENST00000416820;ENST00000443519	.	.	.	5.67	4.55	0.56014	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9957	8.0421	0.30527	0.0:0.16:0.0:0.84	.	.	.	.	X	56;40;56;56;56;56;33	.	ENSP00000365851:C56X	C	+	3	2	BMI1	22655880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.746000	0.38288	2.171000	0.68590	0.528000	0.53228	TGT		0.338	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		73	127	0	0	0	1	0	73	127				
FIGF	2277	broad.mit.edu	37	X	15373392	15373392	+	Missense_Mutation	SNP	G	G	A	rs143510014		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chrX:15373392G>A	ENST00000297904.3	-	4	950	c.521C>T	c.(520-522)tCa>tTa	p.S174L		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	174					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTCAGGTACTGATGTCAAAGG	0.368																																						ENST00000297904.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						c.(520-522)tCa>tTa		c-fos induced growth factor (vascular endothelial growth factor D)							87.0	85.0	85.0					X																	15373392		2203	4300	6503	SO:0001583	missense	2277				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding	g.chrX:15373392G>A	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.521C>T	X.37:g.15373392G>A	ENSP00000297904:p.Ser174Leu						p.S174L	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN			4	950	-	Hepatocellular(33;0.183)		174					B2R7Z3	Missense_Mutation	SNP	ENST00000297904.3	37	c.521C>T	CCDS14166.1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769382	0.31320	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.25	5.25	0.73442	Platelet-derived growth factor (PDGF) (3);	0.602954	0.16887	N	0.195453	T	0.42787	0.1218	L	0.50333	1.59	0.39859	D	0.973341	P	0.41929	0.765	B	0.34779	0.189	T	0.50972	-0.8764	9	0.62326	D	0.03	-32.5797	8.3397	0.32237	0.0:0.1767:0.6618:0.1615	.	174	O43915	VEGFD_HUMAN	L	174	.	ENSP00000297904:S174L	S	-	2	0	FIGF	15283313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.572000	0.45999	2.162000	0.67917	0.600000	0.82982	TCA		0.368	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055859.1	NM_004469		5	46	0	0	0	1	0	5	46				
HSPA1L	3305	broad.mit.edu	37	6	31778218	31778218	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr6:31778218C>T	ENST00000375654.4	-	2	1721	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R511H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	511					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTGCTCAGGCGGCCCTTGTC	0.483																																						ENST00000375654.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1531-1533)cGc>cAc		heat shock 70kDa protein 1-like							167.0	157.0	160.0					6																	31778218		2203	4300	6503	SO:0001583	missense	0				response to unfolded protein		ATP binding	g.chr6:31778218C>T	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1532G>A	6.37:g.31778218C>T	ENSP00000364805:p.Arg511His					HSPA1L_ENST00000417199.3_Missense_Mutation_p.R511H	p.R511H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN			2	1721	-			511					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1532G>A	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431619	0.83776	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.04551	3.6;3.6	5.55	5.55	0.83447	.	0.000000	0.34750	N	0.003712	T	0.32194	0.0821	H	0.98525	4.255	0.58432	D	0.999999	D	0.76494	0.999	D	0.85130	0.997	T	0.54708	-0.8253	10	0.87932	D	0	-9.3782	17.0357	0.86474	0.0:1.0:0.0:0.0	.	511	P34931	HS71L_HUMAN	H	511;511;456	ENSP00000364805:R511H;ENSP00000387691:R511H	ENSP00000364804:R456H	R	-	2	0	HSPA1L	31886197	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.651000	0.83577	2.890000	0.99128	0.585000	0.79938	CGC		0.483	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			5	171	0	0	0	1	0	5	171				
GCN1L1	10985	broad.mit.edu	37	12	120568995	120568995	+	Silent	SNP	C	C	T	rs372015112		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr12:120568995C>T	ENST00000300648.6	-	55	7569	c.7557G>A	c.(7555-7557)gcG>gcA	p.A2519A		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2519					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTACCCTGTCCGCCGTGGCAC	0.582																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7555-7557)gcG>gcA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)		C		0,4208		0,0,2104	74.0	79.0	77.0		7557	-0.9	1.0	12		77	1,8415		0,1,4207	no	coding-synonymous	GCN1L1	NM_006836.1		0,1,6311	TT,TC,CC		0.0119,0.0,0.0079		2519/2672	120568995	1,12623	2104	4208	6312	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120568995C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7557G>A	12.37:g.120568995C>T							p.A2519A	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			55	7569	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2519					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.7557G>A	CCDS41847.1																																																																																				0.582	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			7	57	0	0	0	1	0	7	57				
SPECC1L	23384	broad.mit.edu	37	22	24761555	24761555	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr22:24761555C>T	ENST00000314328.9	+	13	3224	c.2939C>T	c.(2938-2940)tCt>tTt	p.S980F	SPECC1L_ENST00000437398.1_Missense_Mutation_p.S980F|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Missense_Mutation_p.S980F	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	980					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TCCCTGTCCTCTTCTCCAACG	0.512																																						ENST00000314328.9																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(2938-2940)tCt>tTt		sperm antigen with calponin homology and coiled-coil domains 1-like							139.0	104.0	116.0					22																	24761555		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24761555C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.2939C>T	22.37:g.24761555C>T	ENSP00000325785:p.Ser980Phe					SPECC1L_ENST00000541492.1_Missense_Mutation_p.S980F|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S980F|KB-1896H10.1_ENST00000358654.2_3'UTR	p.S980F	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN			13	3224	+			980					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.2939C>T	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393024	0.83011	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	T;T;T	0.62788	0.0;0.0;2.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	N	0.08118	0	0.58432	D	0.999999	D;D	0.57899	0.981;0.968	P;P	0.57720	0.826;0.674	T	0.69614	-0.5098	10	0.87932	D	0	-14.9894	18.4846	0.90824	0.0:1.0:0.0:0.0	.	980;980	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	F	980	ENSP00000393363:S980F;ENSP00000325785:S980F;ENSP00000439633:S980F	ENSP00000325785:S980F	S	+	2	0	SPECC1L	23091555	1.000000	0.71417	0.958000	0.39756	0.914000	0.54420	6.534000	0.73833	2.608000	0.88229	0.591000	0.81541	TCT		0.512	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	NM_015330		10	85	0	0	0	1	0	10	85				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	43	0	0	0	1	0	3	43				
YAE1D1	57002	broad.mit.edu	37	7	39606042	39606042	+	Silent	SNP	T	T	C			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr7:39606042T>C	ENST00000223273.2	+	1	68	c.25T>C	c.(25-27)Ttg>Ctg	p.L9L	YAE1D1_ENST00000448268.1_Silent_p.L9L|YAE1D1_ENST00000432096.2_Silent_p.L9L|AC011290.4_ENST00000439751.2_RNA	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	9																	AGCAGCCTCCTTGATCCAGGG	0.607																																						ENST00000432096.2																			0											c.(25-27)Ttg>Ctg		Yae1 domain containing 1							88.0	77.0	81.0					7																	39606042		2203	4300	6503	SO:0001819	synonymous_variant	57002							g.chr7:39606042T>C	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.25T>C	7.37:g.39606042T>C						YAE1D1_ENST00000448268.1_Silent_p.L9L|YAE1D1_ENST00000223273.2_Silent_p.L9L	p.L9L			Q9NRH1	CG036_HUMAN			1	38	+			9					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Silent	SNP	ENST00000223273.2	37	c.25T>C	CCDS5459.1																																																																																				0.607	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		8	33	0	0	0	1	0	8	33				
DNM1	1759	broad.mit.edu	37	9	130982360	130982360	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr9:130982360G>A	ENST00000372923.3	+	5	775	c.683G>A	c.(682-684)cGc>cAc	p.R228H	DNM1_ENST00000393594.3_Missense_Mutation_p.R228H|DNM1_ENST00000341179.7_Missense_Mutation_p.R228H|DNM1_ENST00000475805.1_Missense_Mutation_p.R228H|DNM1_ENST00000486160.1_Missense_Mutation_p.R228H	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	228	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCCCCCTGCGCAGAGGTAAG	0.627																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(682-684)cGc>cAc		dynamin 1							94.0	78.0	83.0					9																	130982360		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130982360G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.683G>A	9.37:g.130982360G>A	ENSP00000362014:p.Arg228His					DNM1_ENST00000393594.3_Missense_Mutation_p.R228H|DNM1_ENST00000486160.1_Missense_Mutation_p.R228H|DNM1_ENST00000372923.3_Missense_Mutation_p.R228H|DNM1_ENST00000475805.1_Missense_Mutation_p.R228H	p.R228H	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			5	775	+			228					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.683G>A	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392178	0.95988	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97	5.42	5.42	0.78866	Dynamin, GTPase domain (1);Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.985;0.99	D	0.93277	0.6657	10	0.87932	D	0	-24.5363	19.2078	0.93739	0.0:0.0:1.0:0.0	.	228;228;228	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	H	228;228;228;223;228;228	ENSP00000419225:R228H;ENSP00000345680:R228H;ENSP00000362014:R228H;ENSP00000377219:R228H;ENSP00000420045:R228H	ENSP00000345680:R228H	R	+	2	0	DNM1	130022181	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.869000	0.99810	2.532000	0.85374	0.462000	0.41574	CGC		0.627	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		9	17	0	0	0	1	0	9	17				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	54	0	0	0	1	0	3	54				
TGFB1I1	7041	broad.mit.edu	37	16	31485243	31485243	+	Silent	SNP	C	C	T			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr16:31485243C>T	ENST00000394863.3	+	4	400	c.270C>T	c.(268-270)ctC>ctT	p.L90L	TGFB1I1_ENST00000394858.2_Silent_p.L73L|TGFB1I1_ENST00000567607.1_Silent_p.L73L|TGFB1I1_ENST00000361773.3_Silent_p.L73L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	90	Interaction with PTK2/FAK1. {ECO:0000250}.|Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						GTACCGGGCTCTGTGAGCTAG	0.597																																						ENST00000394863.3																			0				lung(8)|upper_aerodigestive_tract(1)	9						c.(268-270)ctC>ctT		transforming growth factor beta 1 induced transcript 1							66.0	71.0	69.0					16																	31485243		2197	4300	6497	SO:0001819	synonymous_variant	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485243C>T	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.270C>T	16.37:g.31485243C>T						TGFB1I1_ENST00000394858.2_Silent_p.L73L|TGFB1I1_ENST00000361773.3_Silent_p.L73L|TGFB1I1_ENST00000567607.1_Silent_p.L73L	p.L90L	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN			4	400	+			90			Interaction with PTK2 (By similarity).|Interaction with PTK2B.|Transcription activation (By similarity).		B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	ENST00000394863.3	37	c.270C>T	CCDS42156.1																																																																																				0.597	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			7	87	0	0	0	1	0	7	87				
KIAA1024	23251	broad.mit.edu	37	15	79749547	79749547	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr15:79749547G>A	ENST00000305428.3	+	2	1133	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	353						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAGCCAGGCGCTGTCTAGGG	0.512																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1057-1059)cGc>cAc		KIAA1024							62.0	67.0	65.0					15																	79749547		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79749547G>A	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1058G>A	15.37:g.79749547G>A	ENSP00000307461:p.Arg353His						p.R353H	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1133	+			353					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1058G>A	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364120	0.24684	.	.	ENSG00000169330	ENST00000305428	T	0.38722	1.12	5.29	2.4	0.29515	.	0.250097	0.30723	N	0.009015	T	0.34861	0.0912	L	0.56769	1.78	0.18873	N	0.999989	B	0.14012	0.009	B	0.08055	0.003	T	0.21381	-1.0247	9	.	.	.	.	8.9039	0.35512	0.3216:0.0:0.6784:0.0	.	353	Q9UPX6	K1024_HUMAN	H	353	ENSP00000307461:R353H	.	R	+	2	0	KIAA1024	77536602	1.000000	0.71417	0.044000	0.18714	0.847000	0.48162	1.729000	0.38115	0.611000	0.30052	0.591000	0.81541	CGC		0.512	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		6	73	0	0	0	1	0	6	73				
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs568163793|rs553429466|rs74134624	byFrequency	TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENST00000295367.4	+	2	205_228	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)gagccaggctgtaccaaggtccctdel	p.EPGCTKVP95del	SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del|SPRR3_ENST00000331860.3_In_Frame_Del_p.EPGCTKVP95del	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(163-186)del		small proline-rich protein 3			,	2036,1952		740,556,698					,	-1.4	0.0		dbSNP_130	70	3135,4775		852,1431,1672	no	coding,coding	SPRR3	NM_005416.2,NM_001097589.1	,	1592,1987,2370	A1A1,A1R,RR		39.6334,48.9468,43.4611	,	,		5171,6727				SO:0001651	inframe_deletion	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	1.37:g.152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENSP00000295367:p.Glu95_Pro102del					SPRR3_ENST00000295367.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del	p.EPGCTKVP95del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	313_336	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		95			14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	In_Frame_Del	DEL	ENST00000295367.4	37	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	CCDS1033.1																																																																																				0.562	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		12	37						12	37	---	---	---	---
NAV1	89796	broad.mit.edu	37	1	201617945	201617946	+	In_Frame_Ins	INS	-	-	CGG	rs561927033	byFrequency	TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr1:201617945_201617946insCGG	ENST00000367296.4	+	1	569_570	c.149_150insCGG	c.(148-153)cccggc>ccCGGcggc	p.55_56insG	NAV1_ENST00000367297.4_In_Frame_Ins_p.55_56insG|NAV1_ENST00000367300.3_In_Frame_Ins_p.55_56insG|NAV1_ENST00000367302.1_In_Frame_Ins_p.68_69insG|NAV1_ENST00000295624.6_In_Frame_Ins_p.55_56insG	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	55					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						gccaaggcgcccggcggcggcg	0.782														16	0.00319489	0.0	0.0043	5008	,	,		8360	0.0		0.0129	False		,,,				2504	0.0					ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(148-150)cgg>cCGGgg		neuron navigator 1																																				SO:0001652	inframe_insertion	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201617945_201617946insCGG	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.162_164dupCGG	1.37:g.201617952_201617954dupCGG	ENSP00000356265:p.Gly55_Gly55dup					NAV1_ENST00000367302.1_In_Frame_Ins_p.63_63R>PG|NAV1_ENST00000367300.3_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000295624.6_In_Frame_Ins_p.50_50R>PG|NAV1_ENST00000367297.4_In_Frame_Ins_p.50_50R>PG	p.50_50R>PG	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			1	569_570	+			50					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	In_Frame_Ins	INS	ENST00000367296.4	37	c.149_150insCGG	CCDS1414.2																																																																																				0.782	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		3	5						3	5	---	---	---	---
RP11-767C1.1	0	broad.mit.edu	37	3	12923955	12923955	+	lincRNA	DEL	C	C	-			TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr3:12923955delC	ENST00000448129.1	-	0	353																											TGGACAGAGGCCCCCGGCTGC	0.597																																						ENST00000448129.1																			0																																																			0							g.chr3:12923955delC																													3.37:g.12923955delC														0	353	-									RNA	DEL	ENST00000448129.1	37																																																																																						0.597	RP11-767C1.1-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000340089.1			2	4						2	4	---	---	---	---
ALG1L2	644974	broad.mit.edu	37	3	129816992	129816992	+	RNA	DEL	G	G	-	rs530821279		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr3:129816992delG	ENST00000507643.1	+	0	647				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										TTGTTGGGTCGGGGAGCTGGG	0.557																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129816992delG	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129816992delG										C9J202	AG1L2_HUMAN			0	647	+									RNA	DEL	ENST00000507643.1	37																																																																																						0.557	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		2	4						2	4	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000398940.1_Splice_Site_p.A37del|MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			12	75						12	75	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754|rs542581403|rs199786165	byFrequency	TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cctcctaca>cca	p.PT470del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573																																						ENST00000256186.2																			2	Deletion - In frame(2)	p.T471delT(2)	upper_aerodigestive_tract(1)|skin(1)	breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1405-1413)cca>c		MICAL C-terminal like				494,2594		71,352,1121						-0.7	0.0		dbSNP_107	5	1955,4965		272,1411,1777	no	coding	MICALCL	NM_032867.2		343,1763,2898	A1A1,A1R,RR		28.2514,15.9974,24.4704				2449,7559				SO:0001651	inframe_deletion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316384_12316389delCTCCTA	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1411delCTCCTA	11.37:g.12316384_12316389delCTCCTA	ENSP00000256186:p.Pro470_Thr471del						p.PPT469del	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1697_1702	+			469			Poly-Pro.		Q7RTP7|Q96JU6	In_Frame_Del	DEL	ENST00000256186.2	37	c.1406_1411delCTCCTA	CCDS41620.1																																																																																				0.573	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		5	3						5	3	---	---	---	---
NTF3	4908	broad.mit.edu	37	12	5603608	5603609	+	Frame_Shift_Ins	INS	-	-	C	rs370431415		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr12:5603608_5603609insC	ENST00000331010.6	+	1	311_312	c.228_229insC	c.(229-231)cccfs	p.P77fs	NTF3_ENST00000423158.3_Frame_Shift_Ins_p.P90fs|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	77					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|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 glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AGCGGGGAGGGCCCGCCAAGTC	0.579																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(265-270)ggccgcfs		neurotrophin 3																																				SO:0001589	frameshift_variant	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5603608_5603609insC		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.231dupC	12.37:g.5603611_5603611dupC	ENSP00000328738:p.Pro77fs					NTF3_ENST00000331010.6_Frame_Shift_Ins_p.R77fs|NTF3_ENST00000535299.1_Intron	p.R90fs	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	479_480	+			77					B7Z1T5|Q6FH50	Frame_Shift_Ins	INS	ENST00000331010.6	37	c.267_268insC	CCDS8538.1																																																																																				0.579	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			9	60						9	60	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000544134.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000542912.1_5'Flank|EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	4	9						4	9	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		3	4						3	4	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-VP-A876-01A-11D-A34U-08	TCGA-VP-A876-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4de8976-c5ea-45ef-b7c7-38d5fd10cd0b	d15683ba-3e40-4447-bca8-760f87c6c438	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		10	136						10	136	---	---	---	---
