#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
SLCO5A1	81796	broad.mit.edu	37	8	70667733	70667733	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:70667733A>T	ENST00000260126.4	-	4	1890	c.1184T>A	c.(1183-1185)cTg>cAg	p.L395Q	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L395Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L395Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	395						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTTCTCCTTCAGAACATCGTC	0.353																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1183-1185)cTg>cAg		solute carrier organic anion transporter family, member 5A1							129.0	111.0	117.0					8																	70667733		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70667733A>T	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.1184T>A	8.37:g.70667733A>T	ENSP00000260126:p.Leu395Gln					SLCO5A1_ENST00000524945.1_Missense_Mutation_p.L395Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.L395Q	p.L395Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		4	1890	-	Breast(64;0.0654)		395					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.1184T>A	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	A	8.998	0.979444	0.18812	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.37915	1.17;1.17;1.17	5.38	4.16	0.48862	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.952707	0.08539	U	0.930839	T	0.33147	0.0853	L	0.42632	1.34	0.30182	N	0.80034	P;B;B;B	0.39480	0.675;0.008;0.008;0.21	B;B;B;B	0.40410	0.328;0.009;0.007;0.096	T	0.05971	-1.0853	10	0.13470	T	0.59	.	11.8276	0.52275	0.8693:0.0:0.0:0.1307	.	395;395;395;395	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	Q	395	ENSP00000260126:L395Q;ENSP00000434422:L395Q;ENSP00000431611:L395Q	ENSP00000260126:L395Q	L	-	2	0	SLCO5A1	70830287	1.000000	0.71417	0.773000	0.31616	0.135000	0.20990	5.008000	0.63991	2.248000	0.74166	0.460000	0.39030	CTG		0.353	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		33	2	0	0	0	1	0	33	2				
PRNT	149830	broad.mit.edu	37	20	4713271	4713271	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr20:4713271G>A	ENST00000326539.2	-	2	989	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	PRNT_ENST00000418528.1_Missense_Mutation_p.L18F|PRNT_ENST00000423718.2_Missense_Mutation_p.L18F			Q86SH4	PRNT_HUMAN	prion protein (testis specific)	18						extracellular region (GO:0005576)				endometrium(2)|lung(5)	7						aggtggagaagatgggaaaga	0.478																																						ENST00000326539.2																			0				endometrium(2)|lung(5)	7						c.(52-54)Ctt>Ttt									149.0	134.0	139.0					20																	4713271		2203	4300	6503	SO:0001583	missense	0							g.chr20:4713271G>A	AL137296, AJ427539		20p13	2013-04-02			ENSG00000180259	ENSG00000180259			18046	other	unknown	"""M8 protein"""					12514748	Standard	NR_024267		Approved	M8	uc010zqq.2	Q86SH4	OTTHUMG00000031785	ENST00000326539.2:c.52C>T	20.37:g.4713271G>A	ENSP00000321242:p.Leu18Phe					PRNT_ENST00000418528.1_Missense_Mutation_p.L18F|PRNT_ENST00000423718.2_Missense_Mutation_p.L18F	p.L18F							2	989	-								B2RPD9|B7ZBI9	Missense_Mutation	SNP	ENST00000326539.2	37	c.52C>T		.	.	.	.	.	.	.	.	.	.	G	7.943	0.743172	0.15642	.	.	ENSG00000180259	ENST00000418528;ENST00000326539;ENST00000423718	T;T;T	0.57595	0.39;0.39;0.39	1.43	0.392	0.16288	.	.	.	.	.	T	0.47040	0.1424	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46219	-0.9207	6	0.87932	D	0	.	4.6825	0.12741	0.0:0.0:0.6295:0.3705	.	.	.	.	F	18	ENSP00000409280:L18F;ENSP00000321242:L18F;ENSP00000404306:L18F	ENSP00000321242:L18F	L	-	1	0	PRNT	4661271	0.023000	0.18921	0.002000	0.10522	0.085000	0.17905	0.387000	0.20718	0.144000	0.18951	0.514000	0.50259	CTT		0.478	PRNT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000253006.2	NM_177549		12	13	0	0	0	1	0	12	13				
PTBP2	58155	broad.mit.edu	37	1	97217030	97217030	+	Missense_Mutation	SNP	C	C	G	rs190645	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:97217030C>G	ENST00000426398.2	+	3	132	c.89C>G	c.(88-90)tCt>tGt	p.S30C	PTBP2_ENST00000394184.3_Missense_Mutation_p.S41C|PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000370198.1_Missense_Mutation_p.S30C|PTBP2_ENST00000609116.1_Missense_Mutation_p.S30C|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.S30C	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	30					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		AGTCCGAACTCTAATATGAGC	0.358																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(88-90)tCt>tGt		polypyrimidine tract binding protein 2							225.0	216.0	219.0					1																	97217030		2203	4300	6503	SO:0001583	missense	58155						nucleotide binding	g.chr1:97217030C>G	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.89C>G	1.37:g.97217030C>G	ENSP00000412788:p.Ser30Cys					PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000370198.1_Missense_Mutation_p.S30C|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000426398.2_Missense_Mutation_p.S30C|PTBP2_ENST00000394184.3_Missense_Mutation_p.S41C|PTBP2_ENST00000370197.1_Missense_Mutation_p.S30C	p.S30C	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	3	171	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	30					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.89C>G	CCDS754.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006497	0.74932	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000394176	T;T;T;T;T	0.49720	0.77;0.8;0.8;0.79;0.81	5.5	5.5	0.81552	.	0.249634	0.42053	D	0.000777	T	0.56455	0.1986	L	0.53249	1.67	0.80722	D	1	D;B;D;D;D;D;D	0.76494	0.966;0.054;0.972;0.966;0.98;0.98;0.999	P;B;P;P;P;D;P	0.63703	0.76;0.085;0.634;0.827;0.818;0.917;0.894	T	0.57171	-0.7857	10	0.56958	D	0.05	-5.0413	18.1605	0.89706	0.0:1.0:0.0:0.0	.	38;41;30;30;30;30;52	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3;Q59G43	.;.;.;PTBP2_HUMAN;.;.;.	C	30;30;30;30;41;20	ENSP00000236228:S30C;ENSP00000359217:S30C;ENSP00000359216:S30C;ENSP00000412788:S30C;ENSP00000377738:S41C	ENSP00000236228:S30C	S	+	2	0	PTBP2	96989618	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.322000	0.65852	2.591000	0.87537	0.557000	0.71058	TCT		0.358	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			4	151	0	0	0	1	0	4	151				
FOSB	2354	broad.mit.edu	37	19	45975905	45975905	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:45975905C>G	ENST00000353609.3	+	4	1244	c.652C>G	c.(652-654)Cac>Gac	p.H218D	FOSB_ENST00000586615.1_Missense_Mutation_p.H169D|FOSB_ENST00000592811.1_Missense_Mutation_p.H169D|FOSB_ENST00000592436.1_Missense_Mutation_p.H218D|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000585836.1_Missense_Mutation_p.H143D|FOSB_ENST00000443841.2_Missense_Mutation_p.H75D|FOSB_ENST00000591858.1_Missense_Mutation_p.H179D|FOSB_ENST00000417353.2_Missense_Mutation_p.H182D	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	218	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GCTGGTGGCCCACAAACCGGG	0.607																																						ENST00000353609.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13						c.(652-654)Cac>Gac		FBJ murine osteosarcoma viral oncogene homolog B							32.0	40.0	37.0					19																	45975905		2203	4299	6502	SO:0001583	missense	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45975905C>G		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.652C>G	19.37:g.45975905C>G	ENSP00000245919:p.His218Asp					ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.H179D|FOSB_ENST00000586615.1_Missense_Mutation_p.H169D|FOSB_ENST00000585836.1_Missense_Mutation_p.H143D|FOSB_ENST00000592436.1_Missense_Mutation_p.218_218insD|FOSB_ENST00000592811.1_Missense_Mutation_p.169_169insD|FOSB_ENST00000417353.2_Missense_Mutation_p.H182D|FOSB_ENST00000443841.2_Missense_Mutation_p.H75D	p.H218D	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	4	1244	+		Ovarian(192;0.051)|all_neural(266;0.112)	218					A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	c.652C>G	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596299	0.86953	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928;ENST00000443841	T;D;T	0.81996	-1.31;-1.56;-0.21	4.77	4.77	0.60923	Basic-leucine zipper (bZIP) transcription factor (1);	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	L	0.34521	1.04	0.80722	D	1	D;D;D;P;D;D	0.76494	0.997;0.998;0.999;0.89;0.999;0.998	D;D;D;D;D;D	0.78314	0.991;0.981;0.991;0.923;0.991;0.981	D	0.87900	0.2690	10	0.87932	D	0	-2.7402	15.3826	0.74673	0.0:1.0:0.0:0.0	.	75;179;143;75;182;218	E7EPR6;A8VJF0;A8VJF3;A8VJG5;E9PHJ3;P53539	.;.;.;.;.;FOSB_HUMAN	D	218;182;218;75	ENSP00000245919:H218D;ENSP00000407207:H182D;ENSP00000414177:H75D	ENSP00000245919:H218D	H	+	1	0	FOSB	50667745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.359000	0.79477	2.497000	0.84241	0.549000	0.68633	CAC		0.607	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		5	11	0	0	0	1	0	5	11				
GLP2R	9340	broad.mit.edu	37	17	9765343	9765343	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:9765343G>C	ENST00000262441.5	+	9	1505	c.992G>C	c.(991-993)tGg>tCg	p.W331S	GLP2R_ENST00000574745.1_Missense_Mutation_p.W151S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	331					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	CTTAGGTGCTGGACAACAAAT	0.468																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(991-993)tGg>tCg		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						160.0	152.0	155.0					17																	9765343		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9765343G>C	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.992G>C	17.37:g.9765343G>C	ENSP00000262441:p.Trp331Ser					GLP2R_ENST00000574745.1_Missense_Mutation_p.W151S	p.W331S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			9	1505	+			331					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.992G>C	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.537|9.537	1.112369|1.112369	0.20795|0.20795	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000458005|ENST00000396206;ENST00000304773;ENST00000262441	.|D	.|0.82711	.|-1.64	4.58|4.58	4.58|4.58	0.56647|0.56647	.|GPCR, family 2-like (1);	.|0.000000	.|0.35615	.|N	.|0.003089	D|D	0.93893|0.93893	0.8046|0.8046	H|H	0.96518|0.96518	3.835|3.835	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.95767|0.95767	0.8805|0.8805	5|10	.|0.87932	.|D	.|0	.|.	16.3873|16.3873	0.83521|0.83521	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|331	.|O95838	.|GLP2R_HUMAN	R|S	184|331;306;331	.|ENSP00000262441:W331S	.|ENSP00000262441:W331S	G|W	+|+	1|2	0|0	GLP2R|GLP2R	9706068|9706068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.287000|0.287000	0.27160|0.27160	8.663000|8.663000	0.91134|0.91134	2.405000|2.405000	0.81733|0.81733	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.468	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			6	104	0	0	0	1	0	6	104				
COL14A1	7373	broad.mit.edu	37	8	121383460	121383460	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:121383460C>A	ENST00000297848.3	+	48	5651	c.5381C>A	c.(5380-5382)cCt>cAt	p.P1794H	COL14A1_ENST00000247781.3_Missense_Mutation_p.P1699H	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)			CTGTGGGGCCCTGGAGTCTGA	0.478																																						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.(5380-5382)cCt>cAt		collagen, type XIV, alpha 1							99.0	100.0	100.0					8																	121383460		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121383460C>A		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.5381C>A	8.37:g.121383460C>A	ENSP00000297848:p.Pro1794His					COL14A1_ENST00000247781.3_Missense_Mutation_p.P1699H	p.P1794H	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		48	5651	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1794						Missense_Mutation	SNP	ENST00000297848.3	37	c.5381C>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779607	0.31502	.	.	ENSG00000187955	ENST00000297848;ENST00000247781	D;D	0.87029	-2.12;-2.2	5.33	4.45	0.53987	.	0.385872	0.28382	N	0.015546	D	0.82614	0.5075	L	0.38175	1.15	0.80722	D	1	B	0.28512	0.214	B	0.33196	0.159	T	0.81879	-0.0730	10	0.87932	D	0	.	11.9747	0.53085	0.0:0.9194:0.0:0.0806	.	1794	Q05707	COEA1_HUMAN	H	1794;1699	ENSP00000297848:P1794H;ENSP00000247781:P1699H	ENSP00000247781:P1699H	P	+	2	0	COL14A1	121452641	0.603000	0.26924	0.298000	0.25002	0.769000	0.43574	2.008000	0.40893	1.470000	0.48102	0.650000	0.86243	CCT		0.478	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		8	113	1	0	1.12685e-05	1	1.20034e-05	8	113				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			5	62	0	0	0	1	0	5	62				
MTHFD2L	441024	broad.mit.edu	37	4	75041108	75041108	+	Silent	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:75041108T>C	ENST00000395759.2	+	3	466	c.439T>C	c.(439-441)Tta>Cta	p.L147L	MTHFD2L_ENST00000433372.1_Silent_p.L12L|MTHFD2L_ENST00000325278.6_Silent_p.L89L|MTHFD2L_ENST00000331145.6_Silent_p.L89L	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	147					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATTAGTTCAGTTACCACTACC	0.353																																						ENST00000395759.2																			0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8						c.(439-441)Tta>Cta		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like							139.0	137.0	137.0					4																	75041108		2203	4300	6503	SO:0001819	synonymous_variant	441024				folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity	g.chr4:75041108T>C	BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.439T>C	4.37:g.75041108T>C						MTHFD2L_ENST00000331145.6_Silent_p.L89L|MTHFD2L_ENST00000433372.1_Silent_p.L12L|MTHFD2L_ENST00000325278.6_Silent_p.L89L	p.L147L	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	all cancers(17;0.0101)|Lung(101;0.196)		3	466	+			89					Q6P079|Q8N560	Silent	SNP	ENST00000395759.2	37	c.439T>C	CCDS47075.1																																																																																				0.353	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004346		5	113	0	0	0	1	0	5	113				
OIT3	170392	broad.mit.edu	37	10	74673065	74673065	+	Splice_Site	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:74673065G>C	ENST00000334011.5	+	6	1008		c.e6-1			NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3							nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTTCTCTGCAGTCCCTGTGTT	0.502																																					Colon(7;19 345 13446 17537)	ENST00000334011.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35						c.e6-1		oncoprotein induced transcript 3							207.0	208.0	208.0					10																	74673065		2203	4300	6503	SO:0001630	splice_region_variant	170392					nuclear envelope	calcium ion binding	g.chr10:74673065G>C		CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.791-1G>C	10.37:g.74673065G>C								NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN			6	1008	+	Prostate(51;0.0198)							A0AVP3|Q8N1M8	Splice_Site	SNP	ENST00000334011.5	37		CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301248	0.40694	.	.	ENSG00000138315	ENST00000334011;ENST00000415725	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OIT3	74343071	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	9.490000	0.97952	2.824000	0.97209	0.655000	0.94253	.		0.502	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	Intron	97	138	0	0	0	1	0	97	138				
DNAH8	1769	broad.mit.edu	37	6	38813481	38813481	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:38813481C>T	ENST00000359357.3	+	34	4580	c.4326C>T	c.(4324-4326)acC>acT	p.T1442T	DNAH8_ENST00000441566.1_Silent_p.T1442T|DNAH8_ENST00000449981.2_Silent_p.T1659T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1442					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCAAAGGAACCGAATCGGGAG	0.388																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4324-4326)acC>acT		dynein, axonemal, heavy chain 8							110.0	110.0	110.0					6																	38813481		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38813481C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4326C>T	6.37:g.38813481C>T						DNAH8_ENST00000449981.2_Silent_p.T1659T|DNAH8_ENST00000441566.1_Silent_p.T1442T	p.T1442T							34	4580	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.4326C>T																																																																																					0.388	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		6	113	0	0	0	1	0	6	113				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	5	54	0	0	0	1	0	5	54				
SPRED2	200734	broad.mit.edu	37	2	65541129	65541129	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:65541129C>T	ENST00000356388.4	-	6	952	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	SPRED2_ENST00000443619.2_Missense_Mutation_p.A252T|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	255	KBD. {ECO:0000255|PROSITE- ProRule:PRU00821}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TCGCCCTTGGCGAAGCGCACG	0.642																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(763-765)Gcc>Acc		sprouty-related, EVH1 domain containing 2							66.0	64.0	64.0					2																	65541129		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65541129C>T	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.763G>A	2.37:g.65541129C>T	ENSP00000348753:p.Ala255Thr					SPRED2_ENST00000443619.2_Missense_Mutation_p.A252T	p.A255T	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	952	-			255			KBD.		A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.763G>A	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	c	15.61	2.883658	0.51908	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.77750	-1.11;-1.11;-1.12;-0.14	5.55	4.67	0.58626	c-Kit-binding domain (1);	0.322539	0.37437	N	0.002100	T	0.68229	0.2978	L	0.45228	1.405	0.54753	D	0.999989	B;B	0.30741	0.04;0.293	B;B	0.17098	0.014;0.017	T	0.64947	-0.6287	10	0.29301	T	0.29	-21.5041	14.4921	0.67657	0.0:0.9292:0.0:0.0708	.	252;255	E9PEP0;Q7Z698	.;SPRE2_HUMAN	T	255;252;270;137	ENSP00000348753:A255T;ENSP00000393697:A252T;ENSP00000390595:A270T;ENSP00000407627:A137T	ENSP00000348753:A255T	A	-	1	0	SPRED2	65394633	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.959000	0.70339	1.346000	0.45694	0.586000	0.80456	GCC		0.642	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			9	147	0	0	0	1	0	9	147				
DAPL1	92196	broad.mit.edu	37	2	159660849	159660849	+	Silent	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:159660849A>G	ENST00000309950.3	+	2	170	c.114A>G	c.(112-114)agA>agG	p.R38R	DAPL1_ENST00000409042.1_Silent_p.R38R	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	38					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)					prostate(1)	1						CCTTGGAAAGACATACCAAAA	0.378																																						ENST00000309950.3																			0				prostate(1)	1						c.(112-114)agA>agG		death associated protein-like 1							61.0	59.0	60.0					2																	159660849		2203	4300	6503	SO:0001819	synonymous_variant	92196				apoptosis|cell differentiation			g.chr2:159660849A>G		CCDS33307.1	2q24	2007-06-26			ENSG00000163331	ENSG00000163331			21490	protein-coding gene	gene with protein product							Standard	NM_001017920		Approved		uc002uaf.3	A0PJW8	OTTHUMG00000153970	ENST00000309950.3:c.114A>G	2.37:g.159660849A>G						DAPL1_ENST00000409042.1_Silent_p.R38R	p.R38R	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN			2	170	+			38					A0PJW9|B9EIK6	Silent	SNP	ENST00000309950.3	37	c.114A>G	CCDS33307.1	.	.	.	.	.	.	.	.	.	.	A	5.397	0.258436	0.10239	.	.	ENSG00000163331	ENST00000343761	.	.	.	5.94	2.27	0.28462	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43845	-0.9366	4	.	.	.	.	7.2931	0.26376	0.7483:0.0:0.2517:0.0	.	.	.	.	A	14	.	.	T	+	1	0	DAPL1	159369095	1.000000	0.71417	0.898000	0.35279	0.420000	0.31355	0.844000	0.27654	0.155000	0.19261	0.528000	0.53228	ACA		0.378	DAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333265.1	NM_001017920		3	23	0	0	0	1	0	3	23				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			38	50	0	0	0	1	0	38	50				
LRFN5	145581	broad.mit.edu	37	14	42360958	42360958	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:42360958C>A	ENST00000298119.4	+	4	3080	c.1891C>A	c.(1891-1893)Cct>Act	p.P631T	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	631						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCTTTGCCTCCTTCCTGGAC	0.453										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1891-1893)Cct>Act		leucine rich repeat and fibronectin type III domain containing 5							124.0	102.0	109.0					14																	42360958		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360958C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1891C>A	14.37:g.42360958C>A	ENSP00000298119:p.Pro631Thr	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.P631T	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	3080	+			631					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1891C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895500	0.33442	.	.	ENSG00000165379	ENST00000298119	T	0.41758	0.99	5.9	5.9	0.94986	.	0.107283	0.40908	D	0.001000	T	0.24851	0.0603	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12477	-1.0546	10	0.11182	T	0.66	.	17.7706	0.88491	0.0:1.0:0.0:0.0	.	631	Q96NI6	LRFN5_HUMAN	T	631	ENSP00000298119:P631T	ENSP00000298119:P631T	P	+	1	0	LRFN5	41430708	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.246000	0.58740	2.808000	0.96608	0.650000	0.86243	CCT		0.453	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		4	55	1	0	0.014758	1	0.0149615	4	55				
IL10	3586	broad.mit.edu	37	1	206944736	206944736	+	Silent	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:206944736A>G	ENST00000423557.1	-	2	248	c.190T>C	c.(190-192)Ttg>Ctg	p.L64L	IL10_ENST00000471071.1_5'Flank	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	64					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|defense response to bacterium (GO:0042742)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|leukocyte chemotaxis (GO:0030595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of chronic inflammatory response to antigenic stimulus (GO:0002875)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interferon-alpha biosynthetic process (GO:0045355)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of myeloid dendritic cell activation (GO:0030886)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor biosynthetic process (GO:0032800)|regulation of gene expression (GO:0010468)|regulation of isotype switching (GO:0045191)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to carbon monoxide (GO:0034465)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to inactivity (GO:0014854)|response to insulin (GO:0032868)|response to molecule of bacterial origin (GO:0002237)|type 2 immune response (GO:0042092)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-10 receptor binding (GO:0005141)			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTTAACAACAAGTtgtccagc	0.488																																						ENST00000423557.1																			0				endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(190-192)Ttg>Ctg		interleukin 10							53.0	47.0	49.0					1																	206944736		2203	4299	6502	SO:0001819	synonymous_variant	3586				anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding	g.chr1:206944736A>G	M57627	CCDS1467.1	1q31-q32	2011-07-14			ENSG00000136634	ENSG00000136634		"""Interleukins and interleukin receptors"""	5962	protein-coding gene	gene with protein product	"""cytokine synthesis inhibitory factor"", ""T-cell growth inhibitory factor"""	124092				9162098	Standard	NM_000572		Approved	CSIF, TGIF, IL10A, IL-10	uc001hen.1	P22301	OTTHUMG00000036386	ENST00000423557.1:c.190T>C	1.37:g.206944736A>G							p.L64L	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		2	248	-	Breast(84;0.183)		64						Silent	SNP	ENST00000423557.1	37	c.190T>C	CCDS1467.1																																																																																				0.488	IL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088564.3	NM_000572		9	17	0	0	0	1	0	9	17				
UTRN	7402	broad.mit.edu	37	6	145160391	145160391	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:145160391A>C	ENST00000367545.3	+	71	10148	c.10148A>C	c.(10147-10149)gAt>gCt	p.D3383A	UTRN_ENST00000367526.4_Missense_Mutation_p.D938A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3383					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTGATCCAGATGCCTCCGGC	0.537																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(10147-10149)gAt>gCt		utrophin							104.0	93.0	97.0					6																	145160391		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145160391A>C	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.10148A>C	6.37:g.145160391A>C	ENSP00000356515:p.Asp3383Ala					UTRN_ENST00000367526.4_Missense_Mutation_p.D938A	p.D3383A	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	71	10148	+		Ovarian(120;0.218)	3383					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.10148A>C	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	2.810	-0.247090	0.05867	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.59083	0.29;3.59	5.87	4.72	0.59763	.	0.107177	0.41294	D	0.000915	T	0.15955	0.0384	N	0.08118	0	0.32489	N	0.540408	B	0.33841	0.428	B	0.33521	0.165	T	0.11227	-1.0596	10	0.08179	T	0.78	.	13.3899	0.60818	0.861:0.139:0.0:0.0	.	3383	P46939	UTRO_HUMAN	A	3383;938	ENSP00000356515:D3383A;ENSP00000356496:D938A	ENSP00000356496:D938A	D	+	2	0	UTRN	145202084	1.000000	0.71417	0.099000	0.21106	0.002000	0.02628	5.042000	0.64202	1.150000	0.42419	0.533000	0.62120	GAT		0.537	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			21	32	0	0	0	1	0	21	32				
SPTBN5	51332	broad.mit.edu	37	15	42169508	42169508	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:42169508A>G	ENST00000320955.6	-	18	3744	c.3517T>C	c.(3517-3519)Tgc>Cgc	p.C1173R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1173					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAGTCTGGGCAGTCCAAGGCT	0.632																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(3517-3519)Tgc>Cgc		spectrin, beta, non-erythrocytic 5							26.0	28.0	27.0					15																	42169508		2002	4166	6168	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42169508A>G	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3517T>C	15.37:g.42169508A>G	ENSP00000317790:p.Cys1173Arg						p.C1173R	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	18	3744	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1173						Missense_Mutation	SNP	ENST00000320955.6	37	c.3517T>C		.	.	.	.	.	.	.	.	.	.	.	0.151	-1.091289	0.01858	.	.	ENSG00000137877	ENST00000320955	T	0.48836	0.8	4.96	-0.447	0.12234	.	1.064060	0.07351	N	0.882451	T	0.26011	0.0634	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21621	-1.0240	10	0.31617	T	0.26	.	8.2611	0.31786	0.4241:0.493:0.0829:0.0	.	1173	Q9NRC6	SPTN5_HUMAN	R	1173	ENSP00000317790:C1173R	ENSP00000317790:C1173R	C	-	1	0	SPTBN5	39956800	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.504000	0.22626	0.273000	0.22049	0.459000	0.35465	TGC		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		7	9	0	0	0	1	0	7	9				
SNTG1	54212	broad.mit.edu	37	8	51465711	51465711	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:51465711C>G	ENST00000522124.1	+	12	1443	c.782C>G	c.(781-783)aCt>aGt	p.T261S	SNTG1_ENST00000276467.5_Missense_Mutation_p.T261S|SNTG1_ENST00000517473.1_Missense_Mutation_p.T261S|SNTG1_ENST00000518864.1_Missense_Mutation_p.T261S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	261					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCAATAGCAACTAACATTTCA	0.413																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.(781-783)aCt>aGt		syntrophin, gamma 1							121.0	104.0	110.0					8																	51465711		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51465711C>G	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.782C>G	8.37:g.51465711C>G	ENSP00000429842:p.Thr261Ser					SNTG1_ENST00000276467.5_Missense_Mutation_p.T261S|SNTG1_ENST00000517473.1_Missense_Mutation_p.T261S|SNTG1_ENST00000518864.1_Missense_Mutation_p.T261S	p.T261S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			12	1443	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	261					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.782C>G	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	9.246	1.039572	0.19669	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.2	5.2	0.72013	Pleckstrin homology domain (1);	0.297892	0.41605	N	0.000850	T	0.29028	0.0721	N	0.13098	0.295	0.21915	N	0.999475	B;B	0.06786	0.001;0.0	B;B	0.17979	0.02;0.0	T	0.08576	-1.0715	10	0.07813	T	0.8	.	14.2276	0.65871	0.0:0.8388:0.1612:0.0	.	261;261	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	S	261	ENSP00000429276:T261S;ENSP00000429842:T261S;ENSP00000431123:T261S;ENSP00000276467:T261S	ENSP00000276467:T261S	T	+	2	0	SNTG1	51628264	0.998000	0.40836	0.993000	0.49108	0.908000	0.53690	3.706000	0.54830	2.437000	0.82529	0.558000	0.71614	ACT		0.413	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			9	37	0	0	0	1	0	9	37				
CREB3L3	84699	broad.mit.edu	37	19	4164517	4164517	+	Silent	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:4164517G>T	ENST00000078445.2	+	5	741	c.594G>T	c.(592-594)ggG>ggT	p.G198G	CREB3L3_ENST00000602147.1_Silent_p.G198G|CREB3L3_ENST00000595923.1_Silent_p.G197G|CREB3L3_ENST00000252587.3_Silent_p.G138G|CREB3L3_ENST00000602257.1_Silent_p.G196G	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	198					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCACCTGGGGGCCTCCTACC	0.567																																						ENST00000078445.2																			0				breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24						c.(592-594)ggG>ggT		cAMP responsive element binding protein 3-like 3							96.0	95.0	95.0					19																	4164517		2203	4300	6503	SO:0001819	synonymous_variant	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4164517G>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.594G>T	19.37:g.4164517G>T						CREB3L3_ENST00000602257.1_Silent_p.G196G|CREB3L3_ENST00000252587.3_Silent_p.G138G|CREB3L3_ENST00000595923.1_Silent_p.G197G|CREB3L3_ENST00000602147.1_Silent_p.G198G	p.G198G	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	5	741	+			198					B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Silent	SNP	ENST00000078445.2	37	c.594G>T	CCDS12121.1																																																																																				0.567	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		7	99	1	0	0.00448238	1	0.00460776	7	99				
INADL	10207	broad.mit.edu	37	1	62586969	62586969	+	Splice_Site	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:62586969T>C	ENST00000371158.2	+	38	5119		c.e38+2		INADL_ENST00000472512.1_Splice_Site	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)						cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAAATTCAGGTATTACACGGA	0.383																																						ENST00000371158.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.e38+2		InaD-like (Drosophila)							62.0	65.0	64.0					1																	62586969		1940	4136	6076	SO:0001630	splice_region_variant	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62586969T>C	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.5005+2T>C	1.37:g.62586969T>C						INADL_ENST00000472512.1_Splice_Site		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN			38	5119	+								O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Splice_Site	SNP	ENST00000371158.2	37		CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	9.645	1.140103	0.21205	.	.	ENSG00000132849	ENST00000371158	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4525	0.61180	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	INADL	62359557	1.000000	0.71417	0.994000	0.49952	0.032000	0.12392	4.599000	0.61076	2.115000	0.64714	0.533000	0.62120	.		0.383	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	Intron	5	61	0	0	0	1	0	5	61				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	67	0	0	0	1	0	3	67				
CYP26B1	56603	broad.mit.edu	37	2	72371209	72371209	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:72371209A>G	ENST00000001146.2	-	2	541	c.338T>C	c.(337-339)gTg>gCg	p.V113A	CYP26B1_ENST00000412253.1_5'Flank|CYP26B1_ENST00000546307.1_Intron	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	113					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTCGGTGCTCACGAGGTGGTG	0.607																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.(337-339)gTg>gCg		cytochrome P450, family 26, subfamily B, polypeptide 1							89.0	80.0	83.0					2																	72371209		2203	4300	6503	SO:0001583	missense	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72371209A>G		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.338T>C	2.37:g.72371209A>G	ENSP00000001146:p.Val113Ala					CYP26B1_ENST00000546307.1_Intron	p.V113A	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			2	541	-			113					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Missense_Mutation	SNP	ENST00000001146.2	37	c.338T>C	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221291	0.79464	.	.	ENSG00000003137	ENST00000001146;ENST00000461519	T;T	0.69040	-0.37;-0.37	4.57	4.57	0.56435	.	0.066219	0.64402	N	0.000016	T	0.70081	0.3183	M	0.78049	2.395	0.80722	D	1	B;B	0.24132	0.098;0.053	B;B	0.33750	0.151;0.169	T	0.72802	-0.4183	10	0.72032	D	0.01	-8.9998	12.2672	0.54684	1.0:0.0:0.0:0.0	.	96;113	B7Z2P4;Q9NR63	.;CP26B_HUMAN	A	113;96	ENSP00000001146:V113A;ENSP00000430871:V96A	ENSP00000001146:V113A	V	-	2	0	CYP26B1	72224717	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.666000	0.91149	2.079000	0.62486	0.454000	0.30748	GTG		0.607	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885		7	132	0	0	0	1	0	7	132				
MAP3K1	4214	broad.mit.edu	37	5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:56181765C>T	ENST00000399503.3	+	17	3989	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343																																						ENST00000399503.3																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(3988-3990)tCg>tTg		mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase							76.0	70.0	72.0					5																	56181765		1823	4067	5890	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56181765C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3989C>T	5.37:g.56181765C>T	ENSP00000382423:p.Ser1330Leu						p.S1330L	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	17	3989	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1330			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.3989C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760742	0.89932	.	.	ENSG00000095015	ENST00000399503	T	0.30981	1.51	5.51	5.51	0.81932	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.61372	-0.7076	10	0.87932	D	0	.	19.414	0.94688	0.0:1.0:0.0:0.0	.	1330	Q13233	M3K1_HUMAN	L	1330	ENSP00000382423:S1330L	ENSP00000382423:S1330L	S	+	2	0	MAP3K1	56217522	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.743000	0.62110	2.591000	0.87537	0.655000	0.94253	TCG		0.343	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		27	45	0	0	0	1	0	27	45				
PRDM15	63977	broad.mit.edu	37	21	43240043	43240043	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr21:43240043C>T	ENST00000269844.3	-	25	3363	c.3253G>A	c.(3253-3255)Gcc>Acc	p.A1085T	PRDM15_ENST00000398548.1_Missense_Mutation_p.A756T|PRDM15_ENST00000538201.1_Missense_Mutation_p.A739T|PRDM15_ENST00000447207.2_Missense_Mutation_p.A719T|PRDM15_ENST00000422911.1_Missense_Mutation_p.A776T	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1085					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGCTCGCAGGCGTGGCTCTTC	0.602																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2326-2328)Gcc>Acc		PR domain containing 15							83.0	50.0	61.0					21																	43240043		2202	4300	6502	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43240043C>T	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3253G>A	21.37:g.43240043C>T	ENSP00000269844:p.Ala1085Thr					PRDM15_ENST00000398548.1_Missense_Mutation_p.A756T|PRDM15_ENST00000447207.2_Missense_Mutation_p.A719T|PRDM15_ENST00000269844.3_Missense_Mutation_p.A1085T|PRDM15_ENST00000538201.1_Missense_Mutation_p.A739T	p.A776T			P57071	PRD15_HUMAN			19	2427	-			1085					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2326G>A	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	19.78	3.890292	0.72524	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.86	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37625	0.1010	N	0.10685	0.025	0.39627	D	0.970122	D;P;D	0.63046	0.992;0.91;0.983	P;B;P	0.51974	0.557;0.202;0.686	T	0.34279	-0.9835	9	0.33940	T	0.23	-32.721	13.7157	0.62695	0.1555:0.8445:0.0:0.0	.	1085;776;756	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	T	776;756;739;719;1085	ENSP00000408592:A776T;ENSP00000381556:A756T;ENSP00000444044:A739T;ENSP00000390245:A719T;ENSP00000269844:A1085T	ENSP00000269844:A1085T	A	-	1	0	PRDM15	42113112	1.000000	0.71417	0.988000	0.46212	0.928000	0.56348	2.204000	0.42761	1.129000	0.42072	0.651000	0.88453	GCC		0.602	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		6	6	0	0	0	1	0	6	6				
ITIH1	3697	broad.mit.edu	37	3	52819072	52819072	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:52819072C>G	ENST00000273283.2	+	12	1444	c.1420C>G	c.(1420-1422)Cag>Gag	p.Q474E	ITIH1_ENST00000542827.1_Missense_Mutation_p.Q474E|ITIH1_ENST00000540715.1_Missense_Mutation_p.Q332E|ITIH1_ENST00000405128.3_5'Flank|ITIH1_ENST00000537050.1_Missense_Mutation_p.Q186E	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	474	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTTCTACAGCCAGGTAGCCAA	0.557																																						ENST00000273283.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1420-1422)Cag>Gag		inter-alpha-trypsin inhibitor heavy chain 1							82.0	79.0	80.0					3																	52819072		2203	4300	6503	SO:0001583	missense	3697				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	g.chr3:52819072C>G		CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.1420C>G	3.37:g.52819072C>G	ENSP00000273283:p.Gln474Glu					ITIH1_ENST00000540715.1_Missense_Mutation_p.Q332E|ITIH1_ENST00000537050.1_Missense_Mutation_p.Q186E|ITIH1_ENST00000542827.1_Missense_Mutation_p.Q474E	p.Q474E	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)	12	1444	+			474			Hyaluronan-binding.		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	c.1420C>G	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	C	5.649	0.304330	0.10678	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133	T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;2.05;4.6	4.88	3.97	0.46021	von Willebrand factor, type A (1);	0.051467	0.85682	D	0.000000	T	0.47078	0.1426	N	0.01809	-0.71	0.41388	D	0.987597	B;B;B	0.18968	0.032;0.004;0.015	B;B;B	0.15052	0.012;0.001;0.011	T	0.52983	-0.8502	10	0.02654	T	1	-24.7304	11.9023	0.52690	0.0:0.6342:0.3658:0.0	.	332;75;474	F5H165;Q9P1C5;P19827	.;.;ITIH1_HUMAN	E	474;474;332;186;27	ENSP00000442584:Q474E;ENSP00000273283:Q474E;ENSP00000443973:Q332E;ENSP00000443847:Q186E;ENSP00000395836:Q27E	ENSP00000273283:Q474E	Q	+	1	0	ITIH1	52794112	1.000000	0.71417	0.972000	0.41901	0.933000	0.57130	3.638000	0.54332	2.557000	0.86248	0.543000	0.68304	CAG		0.557	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215		27	83	0	0	0	1	0	27	83				
PDZD2	23037	broad.mit.edu	37	5	31983348	31983348	+	Silent	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:31983348T>C	ENST00000438447.1	+	3	952	c.564T>C	c.(562-564)aaT>aaC	p.N188N	PDZD2_ENST00000282493.3_Silent_p.N188N			O15018	PDZD2_HUMAN	PDZ domain containing 2	188					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCACTTATAATGGCAACAGTA	0.507																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(562-564)aaT>aaC		PDZ domain containing 2							98.0	100.0	99.0					5																	31983348		2203	4300	6503	SO:0001819	synonymous_variant	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983348T>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.564T>C	5.37:g.31983348T>C						PDZD2_ENST00000282493.3_Silent_p.N188N	p.N188N			O15018	PDZD2_HUMAN			3	952	+			188					Q9BXD4	Silent	SNP	ENST00000438447.1	37	c.564T>C	CCDS34137.1																																																																																				0.507	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	70	0	0	0	1	0	4	70				
OR6A2	8590	broad.mit.edu	37	11	6816496	6816496	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:6816496C>T	ENST00000332601.3	-	1	632	c.444G>A	c.(442-444)caG>caA	p.Q148Q		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	148					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCAGCCATCTGCACACACA	0.512																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(442-444)caG>caA		olfactory receptor, family 6, subfamily A, member 2							68.0	67.0	67.0					11																	6816496		2201	4296	6497	SO:0001819	synonymous_variant	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816496C>T	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.444G>A	11.37:g.6816496C>T							p.Q148Q	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	632	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	148					Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	c.444G>A	CCDS7772.1																																																																																				0.512	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		7	77	0	0	0	1	0	7	77				
ATP10D	57205	broad.mit.edu	37	4	47514615	47514615	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:47514615A>G	ENST00000273859.3	+	2	327	c.58A>G	c.(58-60)Acc>Gcc	p.T20A	ATP10D_ENST00000504445.1_Missense_Mutation_p.T20A	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	20					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAGAGGTGCAACCAGGGATGA	0.537																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(58-60)Acc>Gcc		ATPase, class V, type 10D							106.0	100.0	102.0					4																	47514615		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47514615A>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.58A>G	4.37:g.47514615A>G	ENSP00000273859:p.Thr20Ala					ATP10D_ENST00000504445.1_Missense_Mutation_p.T20A	p.T20A	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			2	327	+			20					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.58A>G	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	3.536	-0.094771	0.07053	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.37058	1.22;4.12	5.24	-10.5	0.00291	.	1.007290	0.07961	N	0.982391	T	0.11110	0.0271	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27536	-1.0071	10	0.07175	T	0.84	0.3447	10.5487	0.45074	0.2206:0.3517:0.4277:0.0	.	20;20	Q9P241;Q6PEW3	AT10D_HUMAN;.	A	20	ENSP00000273859:T20A;ENSP00000420909:T20A	ENSP00000273859:T20A	T	+	1	0	ATP10D	47209372	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.753000	0.26376	-2.597000	0.00453	-1.428000	0.01097	ACC		0.537	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		4	31	0	0	0	1	0	4	31				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	7	1	0	0.115264	1	0.115264	3	7				
SYT10	341359	broad.mit.edu	37	12	33532801	33532801	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:33532801C>T	ENST00000228567.3	-	6	1762	c.1466G>A	c.(1465-1467)cGa>cAa	p.R489Q	SYT10_ENST00000535526.1_Missense_Mutation_p.R308Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	489					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.R489Q(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TATTGGTTTTCGATGATAGGC	0.453																																						ENST00000228567.3																			1	Substitution - Missense(1)	p.R489Q(1)	NS(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1465-1467)cGa>cAa		synaptotagmin X							232.0	197.0	209.0					12																	33532801		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33532801C>T	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1466G>A	12.37:g.33532801C>T	ENSP00000228567:p.Arg489Gln					SYT10_ENST00000535526.1_Missense_Mutation_p.R308Q	p.R489Q	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			6	1762	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		489					Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1466G>A	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275486	0.80580	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.71698	-0.59;-0.59	4.21	4.21	0.49690	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.34725	U	0.003732	T	0.76941	0.4058	M	0.84773	2.715	0.80722	D	1	D	0.58268	0.982	P	0.45428	0.48	D	0.83392	0.0018	10	0.66056	D	0.02	.	16.8349	0.85954	0.0:1.0:0.0:0.0	.	489	Q6XYQ8	SYT10_HUMAN	Q	489;308	ENSP00000228567:R489Q;ENSP00000438691:R308Q	ENSP00000228567:R489Q	R	-	2	0	SYT10	33424068	1.000000	0.71417	0.989000	0.46669	0.991000	0.79684	7.177000	0.77650	2.631000	0.89168	0.585000	0.79938	CGA		0.453	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		64	76	0	0	0	1	0	64	76				
ARHGEF12	23365	broad.mit.edu	37	11	120343820	120343820	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:120343820A>G	ENST00000397843.2	+	31	3183	c.3017A>G	c.(3016-3018)aAt>aGt	p.N1006S	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903S|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1006					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAGTACCCAAATGTTGAAGAG	0.408			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3016-3018)aAt>aGt		Rho guanine nucleotide exchange factor (GEF) 12							172.0	164.0	166.0					11																	120343820		1885	4117	6002	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120343820A>G	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3017A>G	11.37:g.120343820A>G	ENSP00000380942:p.Asn1006Ser					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.N987S|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.N903S	p.N1006S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	31	3183	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1006					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3017A>G	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	A	6.664	0.491085	0.12702	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.42131	0.98;0.98;0.98	5.68	5.68	0.88126	Pleckstrin homology-type (1);	0.000000	0.52532	D	0.000067	T	0.23054	0.0557	N	0.12887	0.27	0.30263	N	0.792973	B;B;B	0.18610	0.0;0.029;0.017	B;B;B	0.12156	0.001;0.007;0.003	T	0.16158	-1.0412	10	0.18710	T	0.47	-22.8944	9.5185	0.39120	0.7351:0.0:0.0:0.2649	.	903;987;1006	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	S	1006;987;903	ENSP00000380942:N1006S;ENSP00000349056:N987S;ENSP00000432984:N903S	ENSP00000349056:N987S	N	+	2	0	ARHGEF12	119849030	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.882000	0.56160	2.179000	0.69175	0.477000	0.44152	AAT		0.408	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		17	245	0	0	0	1	0	17	245				
TPPP2	122664	broad.mit.edu	37	14	21498757	21498757	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:21498757A>C	ENST00000321760.6	+	2	165	c.17A>C	c.(16-18)gAa>gCa	p.E6A	TPPP2_ENST00000460647.2_Missense_Mutation_p.E6A|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA|RP11-998D10.1_ENST00000531638.1_5'Flank|TPPP2_ENST00000530140.2_Missense_Mutation_p.E6A	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	6						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCAGAGGCAGAAAAAACATTC	0.522																																						ENST00000321760.6																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(16-18)gAa>gCa		tubulin polymerization-promoting protein family member 2							78.0	55.0	63.0					14																	21498757		2203	4300	6503	SO:0001583	missense	122664					cytoplasm		g.chr14:21498757A>C	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.17A>C	14.37:g.21498757A>C	ENSP00000317595:p.Glu6Ala					TPPP2_ENST00000460647.2_Missense_Mutation_p.E6A|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.E6A	p.E6A	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	165	+	all_cancers(95;0.000759)		6					Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.17A>C	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566887	0.45694	.	.	ENSG00000179636	ENST00000321760;ENST00000460647;ENST00000530140;ENST00000472458;ENST00000481535	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.05	2.36	0.29203	.	0.169508	0.50627	D	0.000103	T	0.43700	0.1259	L	0.50847	1.595	0.43191	D	0.99502	P	0.34955	0.477	B	0.41946	0.371	T	0.19614	-1.0300	10	0.40728	T	0.16	-20.8615	7.7234	0.28746	0.7916:0.0:0.2084:0.0	.	6	P59282	TPPP2_HUMAN	A	6;6;6;6;1	ENSP00000317595:E6A;ENSP00000427504:E6A;ENSP00000435356:E6A;ENSP00000423171:E6A;ENSP00000421438:E1A	ENSP00000317595:E6A	E	+	2	0	TPPP2	20568597	0.206000	0.23470	0.822000	0.32727	0.120000	0.20174	2.411000	0.44600	0.240000	0.21263	0.533000	0.62120	GAA		0.522	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		10	13	0	0	0	1	0	10	13				
MS4A4A	51338	broad.mit.edu	37	11	60070036	60070036	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:60070036G>A	ENST00000337908.4	+	5	482	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	MS4A4A_ENST00000355131.3_Missense_Mutation_p.R112Q|MS4A4A_ENST00000532114.1_Intron|MS4A4A_ENST00000395016.3_Missense_Mutation_p.R112Q	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	131						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTCTAGGTCCGAGGTAGTCTA	0.398																																						ENST00000355131.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						c.(334-336)cGa>cAa		membrane-spanning 4-domains, subfamily A, member 4A							142.0	125.0	131.0					11																	60070036		2203	4300	6503	SO:0001583	missense	51338					integral to membrane	receptor activity	g.chr11:60070036G>A	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.392G>A	11.37:g.60070036G>A	ENSP00000338648:p.Arg131Gln					MS4A4A_ENST00000337908.4_Missense_Mutation_p.R131Q|MS4A4A_ENST00000532114.1_Intron|MS4A4A_ENST00000395016.3_Missense_Mutation_p.R112Q	p.R112Q	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN			6	558	+			131					Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	ENST00000337908.4	37	c.335G>A	CCDS7982.1	.	.	.	.	.	.	.	.	.	.	G	8.106	0.777725	0.16120	.	.	ENSG00000110079	ENST00000337908;ENST00000355131;ENST00000395016	T;T;T	0.02177	4.41;4.41;4.41	3.12	-2.67	0.06059	.	2.254640	0.03375	N	0.199603	T	0.01523	0.0049	N	0.11255	0.115	0.09310	N	1	B	0.16802	0.019	B	0.16722	0.016	T	0.47736	-0.9094	10	0.11182	T	0.66	0.0034	8.4761	0.33014	0.2932:0.0:0.7068:0.0	.	131	Q96JQ5	M4A4A_HUMAN	Q	131;112;112	ENSP00000338648:R131Q;ENSP00000347252:R112Q;ENSP00000378462:R112Q	ENSP00000338648:R131Q	R	+	2	0	MS4A4A	59826612	0.000000	0.05858	0.000000	0.03702	0.329000	0.28539	-0.775000	0.04679	-0.598000	0.05806	0.467000	0.42956	CGA		0.398	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337774.2			61	72	0	0	0	1	0	61	72				
MIR371B	100616185	broad.mit.edu	37	19	54291978	54291978	+	lincRNA	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:54291978C>T	ENST00000595160.1	-	0	0				AC008753.4_ENST00000597420.1_lincRNA|MIR372_ENST00000362225.1_RNA|MIR373_ENST00000362273.1_RNA|MIR371A_ENST00000362161.1_RNA	NR_029864.1|NR_029865.1|NR_039909.1				microRNA 371b																		AAAATGGGGGCGCTTTCCTTT	0.522																																						ENST00000362273.1																			0																				84.0	88.0	87.0					19																	54291978		1556	3552	5108			0							g.chr19:54291978C>T			19	2011-09-12				ENSG00000269877		"""ncRNAs / Micro RNAs"""	41863	non-coding RNA	RNA, micro							Standard	NR_039909		Approved	hsa-mir-371b	uc021vba.1				19.37:g.54291978C>T								NR_029866.1						0	20	+									RNA	SNP	ENST00000595160.1	37																																																																																						0.522	MIR371B-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000465677.1	NR_039909		6	1	0	0	0	1	0	6	1				
IL36RN	26525	broad.mit.edu	37	2	113819754	113819754	+	Missense_Mutation	SNP	G	G	A	rs77864207	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:113819754G>A	ENST00000393200.2	+	4	330	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	IL36RN_ENST00000346807.3_Missense_Mutation_p.V57I	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	57					antifungal humoral response (GO:0019732)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of interferon-gamma secretion (GO:1902714)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)	extracellular space (GO:0005615)	interleukin-1 receptor antagonist activity (GO:0005152)			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CCTGTCCCCCGTCATCCTGGG	0.622													G|||	7	0.00139776	0.0038	0.0	5008	,	,		18652	0.002		0.0	False		,,,				2504	0.0					ENST00000393200.2																			0				large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(169-171)Gtc>Atc		interleukin 36 receptor antagonist		G	ILE/VAL,ILE/VAL	18,4388	24.3+/-50.5	0,18,2185	64.0	60.0	61.0		169,169	4.5	1.0	2	dbSNP_131	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	IL36RN	NM_012275.2,NM_173170.1	29,29	0,19,6484	AA,AG,GG		0.0116,0.4085,0.1461	benign,benign	57/156,57/156	113819754	19,12987	2203	4300	6503	SO:0001583	missense	26525					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113819754G>A	AF201830	CCDS2111.1	2q14	2014-09-17	2011-06-06	2011-06-06	ENSG00000136695	ENSG00000136695		"""Interleukins and interleukin receptors"""	15561	protein-coding gene	gene with protein product	"""family of interleukin 1-delta"", ""interleukin-1 receptor antagonist homolog 1"", ""interleukin-1 HY1"", ""IL-1 related protein 3"""	605507	"""interleukin 1 family, member 5 (delta)"""	IL1F5		10625660, 10512743, 11574262	Standard	NM_012275		Approved	FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840	uc002tit.3	Q9UBH0	OTTHUMG00000131337	ENST00000393200.2:c.169G>A	2.37:g.113819754G>A	ENSP00000376896:p.Val57Ile					IL36RN_ENST00000346807.3_Missense_Mutation_p.V57I	p.V57I	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN			4	330	+			57					A8K2I4|Q56AT9|Q7RTZ6	Missense_Mutation	SNP	ENST00000393200.2	37	c.169G>A	CCDS2111.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	10.13	1.264974	0.23136	0.004085	1.16E-4	ENSG00000136695	ENST00000346807;ENST00000393200;ENST00000437409	D;D;D	0.84223	-1.82;-1.82;-1.82	5.36	4.47	0.54385	.	0.057314	0.64402	D	0.000002	T	0.67268	0.2875	N	0.25992	0.78	0.31210	N	0.698774	P	0.39940	0.696	B	0.25884	0.064	T	0.67425	-0.5674	10	0.08599	T	0.76	-35.4655	10.3615	0.43996	0.0936:0.0:0.9064:0.0	.	57	Q9UBH0	I36RA_HUMAN	I	57	ENSP00000259212:V57I;ENSP00000376896:V57I;ENSP00000409262:V57I	ENSP00000259212:V57I	V	+	1	0	IL36RN	113536225	0.973000	0.33851	0.988000	0.46212	0.960000	0.62799	0.810000	0.27183	2.511000	0.84671	0.655000	0.94253	GTC		0.622	IL36RN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330729.1	NM_173170		8	57	0	0	0	1	0	8	57				
CYFIP1	23191	broad.mit.edu	37	15	22962444	22962444	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:22962444C>G	ENST00000313077.7	+	20	2289	c.2164C>G	c.(2164-2166)Ctt>Gtt	p.L722V	CYFIP1_ENST00000560848.1_Missense_Mutation_p.L722V|CYFIP1_ENST00000435939.2_Missense_Mutation_p.L291V	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CACTAGTTTGCTTCTTGATAA	0.428																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2164-2166)Ctt>Gtt		cytoplasmic FMR1 interacting protein 1							82.0	84.0	83.0					15																	22962444		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22962444C>G	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.2164C>G	15.37:g.22962444C>G	ENSP00000324549:p.Leu722Val					CYFIP1_ENST00000435939.2_Missense_Mutation_p.L291V|CYFIP1_ENST00000560848.1_Missense_Mutation_p.L722V	p.L722V	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	20	2289	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	722						Missense_Mutation	SNP	ENST00000313077.7	37	c.2164C>G	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794965	0.70452	.	.	ENSG00000068793	ENST00000313077;ENST00000412127;ENST00000435939	T;T	0.24151	1.87;1.87	5.37	5.37	0.77165	.	0.000000	0.56097	D	0.000040	T	0.39332	0.1074	M	0.67953	2.075	0.58432	D	0.999999	B;P;P	0.40834	0.349;0.73;0.688	B;B;P	0.45712	0.253;0.292;0.491	T	0.15694	-1.0428	10	0.46703	T	0.11	-15.6127	19.1128	0.93323	0.0:1.0:0.0:0.0	.	750;291;722	E7EQ04;Q7L576-2;Q7L576	.;.;CYFP1_HUMAN	V	722;750;291	ENSP00000324549:L722V;ENSP00000405956:L291V	ENSP00000324549:L722V	L	+	1	0	CYFIP1	20513885	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.904000	0.56325	2.516000	0.84829	0.655000	0.94253	CTT		0.428	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		6	44	0	0	0	1	0	6	44				
COL6A1	1291	broad.mit.edu	37	21	47422160	47422160	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr21:47422160G>T	ENST00000361866.3	+	32	2209	c.2095G>T	c.(2095-2097)Ggc>Tgc	p.G699C	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	699	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GTGGATGGCGGGCGGCACCTT	0.701																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2095-2097)Ggc>Tgc		collagen, type VI, alpha 1	Palifermin(DB00039)						11.0	11.0	11.0					21																	47422160		2160	4263	6423	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47422160G>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2095G>T	21.37:g.47422160G>T	ENSP00000355180:p.Gly699Cys					COL6A1_ENST00000498614.1_3'UTR	p.G699C	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	32	2209	+	all_hematologic(128;0.24)		699			C-terminal globular domain.|VWFA 2.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.2095G>T	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496963	0.64186	.	.	ENSG00000142156	ENST00000361866	D	0.87179	-2.22	4.63	4.63	0.57726	von Willebrand factor, type A (3);	0.069270	0.64402	D	0.000018	D	0.94866	0.8341	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96180	0.9130	10	0.87932	D	0	-22.672	17.4727	0.87650	0.0:0.0:1.0:0.0	.	699	P12109	CO6A1_HUMAN	C	699	ENSP00000355180:G699C	ENSP00000355180:G699C	G	+	1	0	COL6A1	46246588	1.000000	0.71417	0.202000	0.23494	0.200000	0.23975	8.894000	0.92506	2.134000	0.65973	0.462000	0.41574	GGC		0.701	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		3	9	1	0	0.004672	1	0.00476933	3	9				
CNTN1	1272	broad.mit.edu	37	12	41374766	41374766	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:41374766G>A	ENST00000551295.2	+	16	1977	c.1860G>A	c.(1858-1860)gtG>gtA	p.V620V	CNTN1_ENST00000348761.2_Silent_p.V609V|CNTN1_ENST00000347616.1_Silent_p.V620V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	620	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CCACTTCTGTGGCACTTACTT	0.433																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1858-1860)gtG>gtA		contactin 1							134.0	135.0	134.0					12																	41374766		2203	4300	6503	SO:0001819	synonymous_variant	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41374766G>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1860G>A	12.37:g.41374766G>A						CNTN1_ENST00000347616.1_Silent_p.V620V|CNTN1_ENST00000348761.2_Silent_p.V609V	p.V620V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			16	1977	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	620			Fibronectin type-III 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Silent	SNP	ENST00000551295.2	37	c.1860G>A	CCDS8737.1																																																																																				0.433	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		63	64	0	0	0	1	0	63	64				
HOGA1	112817	broad.mit.edu	37	10	99344652	99344652	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:99344652G>A	ENST00000370646.4	+	1	553	c.192G>A	c.(190-192)ctG>ctA	p.L64L	HOGA1_ENST00000370647.4_Silent_p.L64L|PI4K2A_ENST00000370649.3_Silent_p.L64L|PI4K2A_ENST00000555577.1_Silent_p.L64L	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	64					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						TGCACAAACTGGGCACCTTCC	0.587																																						ENST00000370646.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						c.(190-192)ctG>ctA		4-hydroxy-2-oxoglutarate aldolase 1							71.0	76.0	75.0					10																	99344652		2203	4300	6503	SO:0001819	synonymous_variant	112817							g.chr10:99344652G>A	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.192G>A	10.37:g.99344652G>A						PI4K2A_ENST00000555577.1_Silent_p.L64L|HOGA1_ENST00000370647.4_Silent_p.L64L|PI4K2A_ENST00000370649.3_Silent_p.L64L	p.L64L	NM_138413.3	NP_612422.2					1	553	+								A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Silent	SNP	ENST00000370646.4	37	c.192G>A	CCDS7467.1																																																																																				0.587	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		3	37	0	0	0	1	0	3	37				
NELL1	4745	broad.mit.edu	37	11	20950023	20950023	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:20950023G>A	ENST00000357134.5	+	9	1147	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	NELL1_ENST00000532434.1_Missense_Mutation_p.R332Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R275Q|NELL1_ENST00000298925.5_Missense_Mutation_p.R360Q	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	332	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.R332Q(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAGGTCTGCCGACGTAAGTAC	0.488																																						ENST00000298925.5																			1	Substitution - Missense(1)	p.R332Q(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(1078-1080)cGa>cAa		NEL-like 1 (chicken)							140.0	111.0	121.0					11																	20950023		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20950023G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.995G>A	11.37:g.20950023G>A	ENSP00000349654:p.Arg332Gln					NELL1_ENST00000532434.1_Missense_Mutation_p.R332Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R332Q|NELL1_ENST00000325319.5_Missense_Mutation_p.R275Q	p.R360Q			Q92832	NELL1_HUMAN			10	1232	+			332			VWFC 2.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.1079G>A	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719105	0.68844	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.68	5.68	0.88126	von Willebrand factor, type C (1);	0.059595	0.64402	D	0.000016	T	0.55768	0.1941	L	0.38531	1.155	0.42002	D	0.990897	P;D;B;D	0.69078	0.695;0.997;0.125;0.992	B;P;B;P	0.50825	0.231;0.651;0.018;0.558	T	0.50684	-0.8799	10	0.10111	T	0.7	-10.7311	10.8246	0.46625	0.1147:0.0:0.8853:0.0	.	275;360;332;332	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	Q	360;332;275;332	ENSP00000298925:R360Q;ENSP00000349654:R332Q;ENSP00000317837:R275Q;ENSP00000437170:R332Q	ENSP00000298925:R360Q	R	+	2	0	NELL1	20906599	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.639000	0.61361	2.679000	0.91253	0.561000	0.74099	CGA		0.488	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		21	22	0	0	0	1	0	21	22				
HIST1H2AA	221613	broad.mit.edu	37	6	25726539	25726539	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:25726539C>T	ENST00000297012.3	-	1	251	c.217G>A	c.(217-219)Gat>Aat	p.D73N	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	73						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTTTTGTTATCGCGAGACGCA	0.537																																						ENST00000297012.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						c.(217-219)Gat>Aat		histone cluster 1, H2aa							290.0	236.0	254.0					6																	25726539		2203	4300	6503	SO:0001583	missense	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726539C>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.217G>A	6.37:g.25726539C>T	ENSP00000297012:p.Asp73Asn						p.D73N	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN			1	251	-			73						Missense_Mutation	SNP	ENST00000297012.3	37	c.217G>A	CCDS4562.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.523399	0.27299	.	.	ENSG00000164508	ENST00000297012	T	0.67345	-0.26	3.55	1.73	0.24493	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.51477	D	0.000082	T	0.56587	0.1995	M	0.93016	3.37	0.58432	D	0.999992	B	0.14012	0.009	B	0.08055	0.003	T	0.61118	-0.7127	10	0.72032	D	0.01	.	6.8919	0.24234	0.0:0.7162:0.179:0.1048	.	73	Q96QV6	H2A1A_HUMAN	N	73	ENSP00000297012:D73N	ENSP00000297012:D73N	D	-	1	0	HIST1H2AA	25834518	1.000000	0.71417	0.451000	0.26982	0.001000	0.01503	4.458000	0.60095	0.490000	0.27771	-0.181000	0.13052	GAT		0.537	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745		52	57	0	0	0	1	0	52	57				
ATG5	9474	broad.mit.edu	37	6	106727551	106727551	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:106727551T>C	ENST00000369076.3	-	5	786	c.463A>G	c.(463-465)Atg>Gtg	p.M155V	ATG5_ENST00000343245.3_Missense_Mutation_p.M155V|ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Missense_Mutation_p.M77V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	155					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TGCAATCCCATCCAGAGTTGC	0.303																																						ENST00000369076.3																			0				endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8						c.(463-465)Atg>Gtg		autophagy related 5							102.0	95.0	97.0					6																	106727551		2203	4300	6503	SO:0001583	missense	9474				apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr6:106727551T>C	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.463A>G	6.37:g.106727551T>C	ENSP00000358072:p.Met155Val					ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Missense_Mutation_p.M77V|ATG5_ENST00000343245.3_Missense_Mutation_p.M155V	p.M155V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)	5	786	-	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	155					O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Missense_Mutation	SNP	ENST00000369076.3	37	c.463A>G	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	T	15.03	2.710806	0.48517	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000369070	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.80616	2.505	0.80722	D	1	P;B;P	0.35383	0.498;0.442;0.498	B;B;B	0.40329	0.326;0.219;0.326	T	0.61367	-0.7077	9	0.30078	T	0.28	-21.4583	16.6407	0.85098	0.0:0.0:0.0:1.0	.	155;77;155	A9UGY9;Q9H1Y0-2;Q9H1Y0	.;.;ATG5_HUMAN	V	155;155;77	.	ENSP00000343313:M155V	M	-	1	0	ATG5	106834244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.326000	0.78906	0.533000	0.62120	ATG		0.303	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849		50	91	0	0	0	1	0	50	91				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			0							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			4	9	1	0	0.0215528	1	0.0217004	4	9				
KIRREL3	84623	broad.mit.edu	37	11	126314950	126314950	+	Silent	SNP	G	G	A	rs373178047		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:126314950G>A	ENST00000525144.2	-	10	1425	c.1176C>T	c.(1174-1176)gaC>gaT	p.D392D	KIRREL3_ENST00000529097.2_Silent_p.D392D|KIRREL3_ENST00000525704.2_Silent_p.D392D	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	392	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		ACTTGCCCGCGTCCTCCTGGC	0.637																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(1174-1176)gaC>gaT		kin of IRRE like 3 (Drosophila)		G	,	0,4168		0,0,2084	51.0	55.0	54.0		1176,1176	-0.1	1.0	11		54	2,8418		0,2,4208	no	coding-synonymous,coding-synonymous	KIRREL3	NM_001161707.1,NM_032531.3	,	0,2,6292	AA,AG,GG		0.0238,0.0,0.0159	,	392/601,392/779	126314950	2,12586	2084	4210	6294	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126314950G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1176C>T	11.37:g.126314950G>A						KIRREL3_ENST00000525704.2_Silent_p.D392D|KIRREL3_ENST00000529097.2_Silent_p.D392D	p.D392D	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	10	1425	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	392			Ig-like C2-type 4.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.1176C>T	CCDS53723.1																																																																																				0.637	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		6	86	0	0	0	1	0	6	86				
CHRNA1	1134	broad.mit.edu	37	2	175618317	175618317	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:175618317G>A	ENST00000261007.5	-	7	833	c.767C>T	c.(766-768)cCc>cTc	p.P256L	CHRNA1_ENST00000409323.1_Missense_Mutation_p.P231L|CHRNA1_ENST00000348749.5_Missense_Mutation_p.P231L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.P231L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.P149L	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	256					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GAAGTAGAGGGGCAGGCGCTG	0.582																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(691-693)cCc>cTc		cholinergic receptor, nicotinic, alpha 1 (muscle)							224.0	201.0	209.0					2																	175618317		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175618317G>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.767C>T	2.37:g.175618317G>A	ENSP00000261007:p.Pro256Leu					CHRNA1_ENST00000409219.1_Missense_Mutation_p.P231L|CHRNA1_ENST00000261007.5_Missense_Mutation_p.P256L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.P149L|CHRNA1_ENST00000409323.1_Missense_Mutation_p.P231L|AC018890.6_ENST00000442996.1_RNA	p.P231L	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			6	769	-			256					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.692C>T	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271490	0.80469	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	D;D;D;D;T	0.88818	-2.04;-2.04;-2.04;-2.43;-1.1	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel ligand-binding (1);Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96423	0.8833	H	0.95224	3.64	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.993	D;D;D	0.91635	0.999;0.936;0.976	D	0.97479	1.0046	10	0.87932	D	0	.	19.0425	0.93006	0.0:0.0:1.0:0.0	.	231;231;256	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	L	231;256;149;231;231	ENSP00000261008:P231L;ENSP00000261007:P256L;ENSP00000387026:P149L;ENSP00000386611:P231L;ENSP00000386684:P231L	ENSP00000261007:P256L	P	-	2	0	CHRNA1	175326563	1.000000	0.71417	0.975000	0.42487	0.983000	0.72400	9.753000	0.98904	2.566000	0.86566	0.650000	0.86243	CCC		0.582	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			9	118	0	0	0	1	0	9	118				
MYO5A	4644	broad.mit.edu	37	15	52646145	52646145	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:52646145C>T	ENST00000399231.3	-	26	3733	c.3490G>A	c.(3490-3492)Gag>Aag	p.E1164K	MYO5A_ENST00000399233.2_Missense_Mutation_p.E1164K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1164K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E1164K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E1164K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1164					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TGCTCCAGCTCTGTGACCCGC	0.557																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3490-3492)Gag>Aag		myosin VA (heavy chain 12, myoxin)							113.0	121.0	118.0					15																	52646145		2076	4215	6291	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52646145C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3490G>A	15.37:g.52646145C>T	ENSP00000382177:p.Glu1164Lys					MYO5A_ENST00000553916.1_Missense_Mutation_p.E1164K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E1164K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E1164K|MYO5A_ENST00000399233.2_Missense_Mutation_p.E1164K	p.E1164K	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	26	3733	-			1164					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.3490G>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	C	36	5.821573	0.96989	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	6.07	6.07	0.98685	.	0.050840	0.85682	D	0.000000	T	0.52289	0.1725	L	0.60455	1.87	0.80722	D	1	P;D	0.69078	0.892;0.997	P;P	0.60789	0.644;0.879	T	0.44997	-0.9291	10	0.62326	D	0.03	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1164;1164	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	K	1164;698;1164;1164;1164;794;1164	ENSP00000382177:E1164K;ENSP00000382179:E1164K;ENSP00000348693:E1164K;ENSP00000350945:E1164K;ENSP00000451109:E1164K	ENSP00000348693:E1164K	E	-	1	0	MYO5A	50433437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAG		0.557	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		54	67	0	0	0	1	0	54	67				
DCAF17	80067	broad.mit.edu	37	2	172314562	172314562	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:172314562A>G	ENST00000375255.3	+	7	1036	c.709A>G	c.(709-711)Agc>Ggc	p.S237G	DCAF17_ENST00000539783.1_Missense_Mutation_p.S237G|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	237					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						CAGACTCTATAGCTTCCAAAC	0.398																																						ENST00000375255.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						c.(709-711)Agc>Ggc		DDB1 and CUL4 associated factor 17							209.0	199.0	202.0					2																	172314562		1920	4128	6048	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172314562A>G	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.709A>G	2.37:g.172314562A>G	ENSP00000364404:p.Ser237Gly					DCAF17_ENST00000539783.1_Missense_Mutation_p.S237G|DCAF17_ENST00000468592.1_3'UTR	p.S237G	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN			7	1036	+			237					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.709A>G	CCDS2243.2	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521356	0.64747	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.56611	0.45;0.47	5.91	5.91	0.95273	.	0.137128	0.64402	D	0.000004	T	0.55401	0.1918	L	0.56769	1.78	0.37249	D	0.906487	B;B	0.24043	0.096;0.018	B;B	0.33750	0.169;0.046	T	0.61148	-0.7121	10	0.66056	D	0.02	-3.7843	14.5785	0.68268	1.0:0.0:0.0:0.0	.	237;237	F5H7W1;Q5H9S7	.;DCA17_HUMAN	G	237	ENSP00000364404:S237G;ENSP00000442238:S237G	ENSP00000364404:S237G	S	+	1	0	DCAF17	172022808	1.000000	0.71417	0.998000	0.56505	0.854000	0.48673	6.131000	0.71670	2.259000	0.74868	0.528000	0.53228	AGC		0.398	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		148	156	0	0	0	1	0	148	156				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		7	363	0	0	0	1	0	7	363				
CATSPERG	57828	broad.mit.edu	37	19	38858170	38858170	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:38858170T>C	ENST00000409235.3	+	24	2907	c.2792T>C	c.(2791-2793)aTt>aCt	p.I931T	CATSPERG_ENST00000410018.1_Missense_Mutation_p.I891T|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	931					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TTCTTCTTGATTCAAGATTTG	0.547																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2791-2793)aTt>aCt		catsper channel auxiliary subunit gamma							292.0	320.0	310.0					19																	38858170		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858170T>C	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2792T>C	19.37:g.38858170T>C	ENSP00000386962:p.Ile931Thr					CATSPERG_ENST00000410018.1_Missense_Mutation_p.I891T|CATSPERG_ENST00000215069.4_3'UTR	p.I931T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			24	2907	+			931					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2792T>C	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	T	16.79	3.219710	0.58560	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.30981	1.54;1.51	4.22	4.22	0.49857	.	0.315369	0.22296	U	0.061935	T	0.36771	0.0979	L	0.32530	0.975	0.80722	D	1	D;P	0.61697	0.99;0.939	P;P	0.58721	0.844;0.654	T	0.16070	-1.0415	10	0.72032	D	0.01	-18.3211	9.6972	0.40165	0.0:0.0:0.0:1.0	.	931;891	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	T	891;931;931	ENSP00000387057:I891T;ENSP00000386962:I931T	ENSP00000386962:I931T	I	+	2	0	CATSPERG	43550010	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.761000	0.62243	1.529000	0.49120	0.402000	0.26972	ATT		0.547	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		5	860	0	0	0	1	0	5	860				
TCERG1L	256536	broad.mit.edu	37	10	132944910	132944910	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:132944910T>C	ENST00000368642.4	-	7	1133	c.1048A>G	c.(1048-1050)Acg>Gcg	p.T350A		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	350	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCATCGCCCGTCCAGACCACA	0.507																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1048-1050)Acg>Gcg		transcription elongation regulator 1-like							126.0	113.0	118.0					10																	132944910		2203	4300	6503	SO:0001583	missense	256536							g.chr10:132944910T>C	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1048A>G	10.37:g.132944910T>C	ENSP00000357631:p.Thr350Ala						p.T350A	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	7	1133	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	350			WW 2.		Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.1048A>G	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	T	23.8	4.459263	0.84317	.	.	ENSG00000176769	ENST00000368642	T	0.46819	0.86	4.83	4.83	0.62350	WW/Rsp5/WWP (4);	0.000000	0.56097	D	0.000021	T	0.65091	0.2658	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.69022	-0.5255	10	0.87932	D	0	-7.5711	13.8814	0.63684	0.0:0.0:0.0:1.0	.	350	Q5VWI1	TCRGL_HUMAN	A	350	ENSP00000357631:T350A	ENSP00000357631:T350A	T	-	1	0	TCERG1L	132834900	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.444000	0.80532	1.934000	0.56057	0.377000	0.23210	ACG		0.507	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		6	48	0	0	0	1	0	6	48				
PKHD1	5314	broad.mit.edu	37	6	51750674	51750674	+	Silent	SNP	A	A	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:51750674A>T	ENST00000371117.3	-	45	7481	c.7206T>A	c.(7204-7206)ggT>ggA	p.G2402G	PKHD1_ENST00000340994.4_Silent_p.G2402G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2402					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGGGCACCACCTGCACTTT	0.388																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(7204-7206)ggT>ggA		polycystic kidney and hepatic disease 1 (autosomal recessive)							50.0	47.0	48.0					6																	51750674		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51750674A>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7206T>A	6.37:g.51750674A>T						PKHD1_ENST00000340994.4_Silent_p.G2402G	p.G2402G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			45	7481	-	Lung NSC(77;0.0605)		2402					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.7206T>A	CCDS4935.1																																																																																				0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		18	27	0	0	0	1	0	18	27				
RYR1	6261	broad.mit.edu	37	19	38958370	38958370	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:38958370G>A	ENST00000359596.3	+	25	3299	c.3299G>A	c.(3298-3300)cGc>cAc	p.R1100H	RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H|RYR1_ENST00000355481.4_Missense_Mutation_p.R1100H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCGAGATGCGCGTGGGCTGG	0.627																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(3298-3300)cGc>cAc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						88.0	75.0	79.0					19																	38958370		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38958370G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3299G>A	19.37:g.38958370G>A	ENSP00000352608:p.Arg1100His					RYR1_ENST00000360985.3_Missense_Mutation_p.R1100H|RYR1_ENST00000359596.3_Missense_Mutation_p.R1100H	p.R1100H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		25	3430	+	all_cancers(60;7.91e-06)		1100			6 X approximate repeats.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3299G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	18.16	3.562473	0.65538	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.71341	-0.56;-0.56;-0.56	2.94	2.94	0.34122	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.177658	0.34200	U	0.004163	D	0.87916	0.6298	H	0.95780	3.72	0.47905	D	0.999549	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.91875	0.5511	10	0.87932	D	0	.	14.772	0.69688	0.0:0.0:1.0:0.0	.	1100;1100	P21817-2;P21817	.;RYR1_HUMAN	H	1100	ENSP00000352608:R1100H;ENSP00000347667:R1100H;ENSP00000354254:R1100H	ENSP00000347667:R1100H	R	+	2	0	RYR1	43650210	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.329000	0.96413	1.972000	0.57404	0.403000	0.27427	CGC		0.627	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			43	106	0	0	0	1	0	43	106				
GPR119	139760	broad.mit.edu	37	X	129519181	129519181	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:129519181G>A	ENST00000276218.2	-	1	330	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	81					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AATGCCATCCGCAGGCTGCAC	0.582																																						ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(241-243)Cgg>Tgg		G protein-coupled receptor 119							111.0	102.0	105.0					X																	129519181		2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129519181G>A	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.241C>T	X.37:g.129519181G>A	ENSP00000276218:p.Arg81Trp						p.R81W	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	330	-			81					Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.241C>T	CCDS14625.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562720	0.65538	.	.	ENSG00000147262	ENST00000276218	T	0.36878	1.23	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.069109	0.64402	D	0.000015	T	0.38214	0.1032	N	0.13371	0.34	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.09378	-1.0677	10	0.02654	T	1	-6.4522	16.1931	0.82005	0.0:0.0:1.0:0.0	.	81	Q8TDV5	GP119_HUMAN	W	81	ENSP00000276218:R81W	ENSP00000276218:R81W	R	-	1	2	GPR119	129346862	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.722000	0.61958	2.341000	0.79615	0.513000	0.50165	CGG		0.582	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		8	78	0	0	0	1	0	8	78				
PLXDC1	57125	broad.mit.edu	37	17	37264410	37264410	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:37264410G>A	ENST00000315392.4	-	5	769	c.558C>T	c.(556-558)taC>taT	p.Y186Y	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.Y146Y|PLXDC1_ENST00000539608.1_Silent_p.Y113Y|PLXDC1_ENST00000394316.2_Silent_p.Y186Y	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	186					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGTTGTCGGAGTAGCCAGGGT	0.522																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(556-558)taC>taT		plexin domain containing 1							142.0	141.0	141.0					17																	37264410		2203	4300	6503	SO:0001819	synonymous_variant	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37264410G>A	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.558C>T	17.37:g.37264410G>A						PLXDC1_ENST00000539608.1_Silent_p.Y113Y|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.Y146Y|PLXDC1_ENST00000394316.2_Silent_p.Y186Y	p.Y186Y	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			5	769	-			186					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Silent	SNP	ENST00000315392.4	37	c.558C>T	CCDS11333.1																																																																																				0.522	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		77	83	0	0	0	1	0	77	83				
AKR7L	246181	broad.mit.edu	37	1	19595113	19595113	+	RNA	SNP	T	T	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:19595113T>G	ENST00000429712.1	-	0	906				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCCGAGGTCATGCTGGGAGCG	0.632																																						ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like							84.0	78.0	80.0					1																	19595113		2203	4300	6503			246181							g.chr1:19595113T>G			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19595113T>G						AKR7L_ENST00000429712.1_RNA								0	589	-								Q5U614	RNA	SNP	ENST00000429712.1	37			.	.	.	.	.	.	.	.	.	.	t	0.008	-1.869757	0.00542	.	.	ENSG00000211454	ENST00000420396;ENST00000457194;ENST00000429712;ENST00000388886	T	0.03717	3.83	3.73	-0.235	0.13071	NADP-dependent oxidoreductase domain (3);	0.235594	0.45867	N	0.000326	T	0.01387	0.0045	.	.	.	0.20563	N	0.999887	B	0.02656	0.0	B	0.04013	0.001	T	0.44034	-0.9354	9	0.09084	T	0.74	.	0.5611	0.00679	0.166:0.2069:0.2634:0.3637	.	263	Q8NHP1	ARK74_HUMAN	L	85;153;263;228	ENSP00000406430:M85L	ENSP00000373538:M228L	M	-	1	0	AKR7L	19467700	0.993000	0.37304	0.877000	0.34402	0.003000	0.03518	0.120000	0.15647	-0.153000	0.11137	-0.545000	0.04230	ATG		0.632	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		27	41	0	0	0	1	0	27	41				
SLITRK6	84189	broad.mit.edu	37	13	86370406	86370406	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr13:86370406G>T	ENST00000400286.2	-	2	836	c.238C>A	c.(238-240)Cac>Aac	p.H80N		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	80					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCATTTGTGTGAAGCATCGTC	0.378																																						ENST00000400286.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(238-240)Cac>Aac		SLIT and NTRK-like family, member 6							175.0	165.0	168.0					13																	86370406		1912	4123	6035	SO:0001583	missense	84189					integral to membrane		g.chr13:86370406G>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.238C>A	13.37:g.86370406G>T	ENSP00000383143:p.His80Asn						p.H80N	NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	836	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		80					A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.238C>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	9.947	1.219087	0.22373	.	.	ENSG00000184564	ENST00000400286	T	0.50813	0.73	6.17	5.33	0.75918	.	0.138805	0.56097	D	0.000026	T	0.39410	0.1077	L	0.28776	0.89	0.36168	D	0.848561	P	0.52842	0.956	B	0.44224	0.444	T	0.47674	-0.9099	10	0.32370	T	0.25	-15.4953	14.1757	0.65539	0.0715:0.0:0.9285:0.0	.	80	Q9H5Y7	SLIK6_HUMAN	N	80	ENSP00000383143:H80N	ENSP00000383143:H80N	H	-	1	0	SLITRK6	85268407	1.000000	0.71417	0.525000	0.27900	0.658000	0.38924	5.851000	0.69481	1.633000	0.50488	0.655000	0.94253	CAC		0.378	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		12	142	1	0	5.50884e-06	1	5.91094e-06	12	142				
KIAA1456	57604	broad.mit.edu	37	8	12879417	12879417	+	Missense_Mutation	SNP	G	G	A	rs537507417		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:12879417G>A	ENST00000524591.2	+	5	1718	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	410							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCCTTTATGCGCTACTACCAT	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19167	0.0		0.0	False		,,,				2504	0.001					ENST00000524591.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(1228-1230)cGc>cAc		KIAA1456							70.0	66.0	67.0					8																	12879417		1920	4141	6061	SO:0001583	missense	57604						methyltransferase activity	g.chr8:12879417G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.1229G>A	8.37:g.12879417G>A	ENSP00000432695:p.Arg410His					KIAA1456_ENST00000447063.2_Intron	p.R410H	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN			5	1718	+			410					Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	c.1229G>A	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123220	0.94429	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.14640	2.49	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.50854	0.1640	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66168	-0.5991	10	0.87932	D	0	-23.4515	18.325	0.90251	0.0:0.0:1.0:0.0	.	410	Q9P272	K1456_HUMAN	H	410;323	ENSP00000432695:R410H	ENSP00000432695:R410H	R	+	2	0	AC135352.2	12923788	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.228000	0.95250	2.655000	0.90218	0.655000	0.94253	CGC		0.468	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		7	40	0	0	0	1	0	7	40				
SLCO1A2	6579	broad.mit.edu	37	12	21422506	21422506	+	Silent	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:21422506A>G	ENST00000307378.6	-	16	2709	c.1989T>C	c.(1987-1989)gaT>gaC	p.D663D	SLCO1A2_ENST00000537524.1_Silent_p.D531D|SLCO1A2_ENST00000458504.1_Silent_p.D531D|SLCO1A2_ENST00000452078.1_Silent_p.D663D	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	663					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	TCAATTCATCATCTTTCAAAA	0.308																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1987-1989)gaT>gaC		solute carrier organic anion transporter family, member 1A2							124.0	132.0	129.0					12																	21422506		2203	4300	6503	SO:0001819	synonymous_variant	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21422506A>G		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1989T>C	12.37:g.21422506A>G						SLCO1A2_ENST00000458504.1_Silent_p.D531D|SLCO1A2_ENST00000537524.1_Silent_p.D531D|SLCO1A2_ENST00000452078.1_Silent_p.D663D	p.D663D	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			16	2709	-			663					Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	c.1989T>C	CCDS8686.1																																																																																				0.308	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		36	64	0	0	0	1	0	36	64				
TRIM15	89870	broad.mit.edu	37	6	30139894	30139894	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:30139894T>C	ENST00000376694.4	+	7	1635	c.1166T>C	c.(1165-1167)gTg>gCg	p.V389A	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GTCTGGGCCGTGATCATCTCG	0.726																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(1165-1167)gTg>gCg		tripartite motif containing 15							13.0	8.0	10.0					6																	30139894		1467	2627	4094	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30139894T>C	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.1166T>C	6.37:g.30139894T>C	ENSP00000365884:p.Val389Ala					TRIM15_ENST00000376688.1_Intron	p.V389A	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			7	1635	+			389			B30.2/SPRY.		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.1166T>C	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.970887	0.53614	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	T	0.70164	-0.46	4.77	2.33	0.28932	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.798759	0.10151	U	0.709648	T	0.51736	0.1692	M	0.86740	2.835	0.22656	N	0.998882	B	0.29835	0.258	B	0.31686	0.134	T	0.57093	-0.7870	10	0.87932	D	0	.	5.2918	0.15731	0.1705:0.0:0.1994:0.6301	.	389	Q9C019	TRI15_HUMAN	A	320;389	ENSP00000365884:V389A	ENSP00000365884:V389A	V	+	2	0	TRIM15	30247873	0.954000	0.32549	0.000000	0.03702	0.987000	0.75469	4.683000	0.61679	0.191000	0.20236	0.391000	0.25812	GTG		0.726	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		3	5	0	0	0	1	0	3	5				
SORCS2	57537	broad.mit.edu	37	4	7691251	7691251	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:7691251C>A	ENST00000507866.2	+	11	1636	c.1527C>A	c.(1525-1527)gaC>gaA	p.D509E	SORCS2_ENST00000329016.9_Missense_Mutation_p.D337E	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	509					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GCTGGGCAGACAACCCCTACG	0.587																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1525-1527)gaC>gaA		sortilin-related VPS10 domain containing receptor 2							37.0	41.0	40.0					4																	7691251		2143	4247	6390	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7691251C>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1527C>A	4.37:g.7691251C>A	ENSP00000422185:p.Asp509Glu					SORCS2_ENST00000329016.9_Missense_Mutation_p.D337E	p.D509E	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			11	1636	+			509					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1527C>A	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277787	0.23307	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.21543	2.0;2.0	3.24	3.24	0.37175	VPS10 (1);	0.000000	0.64402	D	0.000001	T	0.21103	0.0508	N	0.16166	0.38	0.50813	D	0.999894	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.04522	-1.0945	10	0.02654	T	1	.	10.925	0.47185	0.0:0.9009:0.0:0.0991	.	337;509	B5MED8;Q96PQ0	.;SORC2_HUMAN	E	509;337	ENSP00000422185:D509E;ENSP00000329124:D337E	ENSP00000329124:D337E	D	+	3	2	SORCS2	7742151	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.449000	0.35123	1.806000	0.52798	0.557000	0.71058	GAC		0.587	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		5	6	1	0	1.024e-07	1	1.11502e-07	5	6				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	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			6	111	0	0	0	1	0	6	111				
SLC16A6	9120	broad.mit.edu	37	17	66267601	66267601	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:66267601A>G	ENST00000327268.4	-	6	864	c.700T>C	c.(700-702)Tca>Cca	p.S234P	SLC16A6_ENST00000580666.1_Missense_Mutation_p.S234P|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	234					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GAGTCTATTGAGGTTCGTGTT	0.458																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(700-702)Tca>Cca		solute carrier family 16, member 6	Pyruvic acid(DB00119)						153.0	154.0	154.0					17																	66267601		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267601A>G	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.700T>C	17.37:g.66267601A>G	ENSP00000319991:p.Ser234Pro					ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.S234P	p.S234P	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	864	-	all_cancers(12;1.24e-09)		234					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.700T>C	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.310166	0.81358	.	.	ENSG00000108932	ENST00000327268	T	0.04654	3.58	4.59	4.59	0.56863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.	.	.	.	T	0.18800	0.0451	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.00346	-1.1800	9	0.54805	T	0.06	.	13.3097	0.60374	1.0:0.0:0.0:0.0	.	234	O15403	MOT7_HUMAN	P	234	ENSP00000319991:S234P	ENSP00000319991:S234P	S	-	1	0	SLC16A6	63779196	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	6.580000	0.74040	1.917000	0.55516	0.397000	0.26171	TCA		0.458	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		12	210	0	0	0	1	0	12	210				
RP1L1	94137	broad.mit.edu	37	8	10470682	10470682	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:10470682A>G	ENST00000382483.3	-	4	1149	c.926T>C	c.(925-927)aTg>aCg	p.M309T		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	309					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCTTCTTCATGTCATCGCC	0.652																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(925-927)aTg>aCg		retinitis pigmentosa 1-like 1							74.0	84.0	81.0					8																	10470682		2113	4221	6334	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470682A>G	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.926T>C	8.37:g.10470682A>G	ENSP00000371923:p.Met309Thr						p.M309T	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1149	-			309					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.926T>C	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	A	15.57	2.871289	0.51695	.	.	ENSG00000183638	ENST00000382483	T	0.04049	3.72	4.82	4.82	0.62117	.	0.757892	0.10292	U	0.692190	T	0.05502	0.0145	N	0.22421	0.69	0.26009	N	0.982017	B	0.32862	0.387	B	0.33339	0.162	T	0.37549	-0.9701	10	0.66056	D	0.02	-4.5427	13.7004	0.62604	1.0:0.0:0.0:0.0	.	309	A6NKC6	.	T	309	ENSP00000371923:M309T	ENSP00000371923:M309T	M	-	2	0	RP1L1	10508092	1.000000	0.71417	0.454000	0.27019	0.736000	0.42039	8.846000	0.92159	2.016000	0.59253	0.482000	0.46254	ATG		0.652	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			8	113	0	0	0	1	0	8	113				
FN1	2335	broad.mit.edu	37	2	216292929	216292929	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:216292929T>C	ENST00000359671.1	-	6	1083	c.818A>G	c.(817-819)cAc>cGc	p.H273R	FN1_ENST00000432072.2_Missense_Mutation_p.H273R|FN1_ENST00000346544.3_Missense_Mutation_p.H273R|FN1_ENST00000426059.1_Missense_Mutation_p.H273R|FN1_ENST00000357009.2_Missense_Mutation_p.H273R|FN1_ENST00000345488.5_Missense_Mutation_p.H273R|FN1_ENST00000357867.4_Missense_Mutation_p.H273R|FN1_ENST00000446046.1_Missense_Mutation_p.H273R|FN1_ENST00000356005.4_Missense_Mutation_p.H273R|FN1_ENST00000323926.6_Missense_Mutation_p.H273R|FN1_ENST00000443816.1_Missense_Mutation_p.H273R|FN1_ENST00000354785.4_Missense_Mutation_p.H273R|FN1_ENST00000421182.1_Missense_Mutation_p.H273R|FN1_ENST00000336916.4_Missense_Mutation_p.H273R			P02751	FINC_HUMAN	fibronectin 1	273	Fibronectin type-I 5. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CACAGAGGTGTGCCTCTCACA	0.537																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(817-819)cAc>cGc		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						121.0	104.0	110.0					2																	216292929		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216292929T>C		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.818A>G	2.37:g.216292929T>C	ENSP00000352696:p.His273Arg					FN1_ENST00000359671.1_Missense_Mutation_p.H273R|FN1_ENST00000357867.4_Missense_Mutation_p.H273R|FN1_ENST00000356005.4_Missense_Mutation_p.H273R|FN1_ENST00000346544.3_Missense_Mutation_p.H273R|FN1_ENST00000345488.5_Missense_Mutation_p.H273R|FN1_ENST00000336916.4_Missense_Mutation_p.H273R|FN1_ENST00000426059.1_Missense_Mutation_p.H273R|FN1_ENST00000323926.6_Missense_Mutation_p.H273R|FN1_ENST00000357009.2_Missense_Mutation_p.H273R|FN1_ENST00000446046.1_Missense_Mutation_p.H273R|FN1_ENST00000443816.1_Missense_Mutation_p.H273R|FN1_ENST00000432072.2_Missense_Mutation_p.H273R|FN1_ENST00000421182.1_Missense_Mutation_p.H273R	p.H273R			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	1187	-		Renal(323;0.127)	273			Fibronectin type-I 5.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.818A>G		.	.	.	.	.	.	.	.	.	.	T	19.71	3.879140	0.72294	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48836	0.8;2.18;2.34;0.88;2.38;2.03;2.39;2.04;2.16;2.08;1.57;0.89;1.47;1.37	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.68997	0.3062	M	0.74258	2.255	0.80722	D	1	D;D;B;P;D;P;D;P;D;D;B	0.76494	0.986;0.99;0.02;0.756;0.974;0.956;0.999;0.949;0.974;0.974;0.03	P;D;B;P;P;P;D;P;P;P;B	0.74348	0.881;0.983;0.073;0.583;0.796;0.63;0.979;0.632;0.796;0.796;0.071	T	0.72903	-0.4151	10	0.87932	D	0	.	16.2484	0.82467	0.0:0.0:0.0:1.0	.	273;273;273;273;273;273;273;273;273;273;273	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	R	273	ENSP00000394423:H273R;ENSP00000323534:H273R;ENSP00000338200:H273R;ENSP00000350534:H273R;ENSP00000346839:H273R;ENSP00000352696:H273R;ENSP00000265312:H273R;ENSP00000273049:H273R;ENSP00000349509:H273R;ENSP00000410422:H273R;ENSP00000415018:H273R;ENSP00000399538:H273R;ENSP00000348285:H273R;ENSP00000398907:H273R	ENSP00000265313:H273R	H	-	2	0	FN1	216001174	1.000000	0.71417	0.934000	0.37439	0.276000	0.26787	7.582000	0.82546	2.291000	0.77112	0.533000	0.62120	CAC		0.537	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		45	46	0	0	0	1	0	45	46				
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C	rs370500896	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542													G|||	18	0.00359425	0.0	0.0	5008	,	,		22692	0.0		0.001	False		,,,				2504	0.0174					ENST00000418868.1																			0																																																			0							g.chr3:197348634G>C																													3.37:g.197348634G>C								NR_003266.2						0	625	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.542	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	66	0	0	0	1	0	4	66				
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	lincRNA	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343																																						ENST00000423385.1																			0																																																			0							g.chr1:142803480T>C																													1.37:g.142803480T>C														0	1485	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.343	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			7	58	0	0	0	1	0	7	58				
SARS2	54938	broad.mit.edu	37	19	39421358	39421358	+	Missense_Mutation	SNP	G	G	A	rs369247597		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:39421358G>A	ENST00000221431.6	-	1	178	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.R7W|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000594171.1_5'Flank|MRPS12_ENST00000402029.3_5'Flank|SARS2_ENST00000600042.1_Missense_Mutation_p.R7W|MRPS12_ENST00000407800.2_5'Flank	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	7					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACAAGCGCCGCGCCATGGAC	0.607											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000221431.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(19-21)Cgg>Tgg		seryl-tRNA synthetase 2, mitochondrial		G	TRP/ARG,TRP/ARG,	0,4406		0,0,2203	35.0	34.0	34.0		19,19,	4.6	1.0	19		34	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,utr-5	MRPS12,SARS2	NM_001145901.1,NM_017827.3,NM_033362.3	101,101,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,	7/521,7/519,	39421358	1,13003	2203	4299	6502	SO:0001583	missense	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39421358G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.19C>T	19.37:g.39421358G>A	ENSP00000221431:p.Arg7Trp		OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	885	SARS2_ENST00000448145.2_Intron|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_5'UTR|SARS2_ENST00000430193.3_Missense_Mutation_p.R7W|SARS2_ENST00000600042.1_Missense_Mutation_p.R7W	p.R7W	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		1	178	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		7					A6NHW7|B4DE10|Q9BVP3	Missense_Mutation	SNP	ENST00000221431.6	37	c.19C>T	CCDS33017.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160660	0.78226	0.0	1.16E-4	ENSG00000104835	ENST00000430193;ENST00000221431;ENST00000455102	T;T;T	0.59638	0.26;0.25;0.73	5.65	4.59	0.56863	.	0.653694	0.15274	N	0.271076	T	0.72755	0.3500	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.76071	0.987;0.874;0.874	T	0.72427	-0.4297	10	0.72032	D	0.01	.	10.7378	0.46135	0.0873:0.0:0.9127:0.0	.	7;7;7	B4DJP6;B4DE10;Q9NP81	.;.;SYSM_HUMAN	W	7	ENSP00000406754:R7W;ENSP00000221431:R7W;ENSP00000414954:R7W	ENSP00000221431:R7W	R	-	1	2	FBXO17	44113198	0.929000	0.31497	0.960000	0.40013	0.416000	0.31233	2.269000	0.43346	2.941000	0.99782	0.655000	0.94253	CGG		0.607	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827		6	44	0	0	0	1	0	6	44				
HAS3	3038	broad.mit.edu	37	16	69148261	69148261	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:69148261G>A	ENST00000306560.1	+	4	910	c.754G>A	c.(754-756)Gac>Aac	p.D252N	HAS3_ENST00000569188.1_Missense_Mutation_p.D252N|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	252					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CAACAAGTACGACTCATGGAT	0.557																																						ENST00000306560.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16						c.(754-756)Gac>Aac		hyaluronan synthase 3							158.0	146.0	150.0					16																	69148261		2198	4300	6498	SO:0001583	missense	3038				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	g.chr16:69148261G>A	BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.754G>A	16.37:g.69148261G>A	ENSP00000304440:p.Asp252Asn					HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Missense_Mutation_p.D252N	p.D252N	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0694)	4	910	+		Ovarian(137;0.101)	252					A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	c.754G>A	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723810	0.89298	.	.	ENSG00000103044	ENST00000306560	T	0.41065	1.01	5.95	5.95	0.96441	.	0.043129	0.85682	D	0.000000	T	0.69913	0.3164	M	0.87456	2.885	0.58432	D	0.999999	D	0.76494	0.999	D	0.66084	0.941	T	0.74144	-0.3760	10	0.87932	D	0	-13.635	19.1646	0.93551	0.0:0.0:1.0:0.0	.	252	O00219	HAS3_HUMAN	N	252	ENSP00000304440:D252N	ENSP00000304440:D252N	D	+	1	0	HAS3	67705762	1.000000	0.71417	0.937000	0.37676	0.990000	0.78478	9.807000	0.99171	2.824000	0.97209	0.655000	0.94253	GAC		0.557	HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612		69	75	0	0	0	1	0	69	75				
KIF6	221458	broad.mit.edu	37	6	39353431	39353431	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:39353431T>C	ENST00000287152.7	-	16	1922	c.1828A>G	c.(1828-1830)Atc>Gtc	p.I610V	KIF6_ENST00000394362.1_Missense_Mutation_p.I61V|KIF6_ENST00000373213.4_Missense_Mutation_p.I449V|KIF6_ENST00000229913.5_Missense_Mutation_p.I61V|KIF6_ENST00000373216.3_Missense_Mutation_p.I610V|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000541946.1_Missense_Mutation_p.I61V|KIF6_ENST00000538893.1_Missense_Mutation_p.I554V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	610					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGCTGGGTGATTTCTTCCTTC	0.463																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1828-1830)Atc>Gtc		kinesin family member 6							117.0	110.0	112.0					6																	39353431		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39353431T>C	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1828A>G	6.37:g.39353431T>C	ENSP00000287152:p.Ile610Val					KIF6_ENST00000373216.3_Missense_Mutation_p.I610V|KIF6_ENST00000394362.1_Missense_Mutation_p.I61V|KIF6_ENST00000229913.5_Missense_Mutation_p.I61V|KIF6_ENST00000373213.4_Missense_Mutation_p.I449V|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000541946.1_Missense_Mutation_p.I61V|KIF6_ENST00000538893.1_Missense_Mutation_p.I554V	p.I610V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			16	1922	-			610					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1828A>G	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	t	13.12	2.141515	0.37825	.	.	ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000538893;ENST00000541946;ENST00000540362	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.73	4.57	0.56435	.	.	.	.	.	T	0.22166	0.0534	L	0.58583	1.82	0.34562	D	0.712449	B;B;B	0.23185	0.052;0.081;0.07	B;B;B	0.25614	0.022;0.046;0.062	T	0.05835	-1.0861	9	0.30078	T	0.28	.	10.7461	0.46181	0.0:0.0:0.1754:0.8246	.	554;610;610	F6VGH2;Q6ZMV9-3;Q6ZMV9	.;.;KIF6_HUMAN	V	610;61;610;449;61;554;61;61	ENSP00000287152:I610V;ENSP00000377889:I61V;ENSP00000362312:I610V;ENSP00000362309:I449V;ENSP00000229913:I61V;ENSP00000441435:I554V;ENSP00000439064:I61V	ENSP00000229913:I61V	I	-	1	0	KIF6	39461409	0.995000	0.38212	0.814000	0.32528	0.960000	0.62799	1.045000	0.30341	1.104000	0.41587	0.524000	0.50904	ATC		0.463	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		36	34	0	0	0	1	0	36	34				
PRKACA	5566	broad.mit.edu	37	19	14199775	14199775	+	IGR	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:14199775G>C	ENST00000308677.4	-	0	2677				SAMD1_ENST00000541938.1_5'Flank|SAMD1_ENST00000533683.2_Silent_p.T315T|PRKACA_ENST00000350356.3_5'Flank	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGTCTGGCCCGGTGGCAACAG	0.612																																						ENST00000533683.2																			0				endometrium(3)	3						c.(943-945)acC>acG		sterile alpha motif domain containing 1							27.0	36.0	33.0					19																	14199775		1889	4104	5993	SO:0001628	intergenic_variant	90378					cytoplasm|extracellular region		g.chr19:14199775G>C		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612			19.37:g.14199775G>C							p.T315T	NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)	3	1232	-		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)	421					Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	37	c.945C>G	CCDS12304.1																																																																																				0.612	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		5	16	0	0	0	1	0	5	16				
PTCHD4	442213	broad.mit.edu	37	6	47976553	47976553	+	Missense_Mutation	SNP	C	C	T	rs191919500		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:47976553C>T	ENST00000339488.4	-	2	757	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	PTCHD4_ENST00000543600.1_Missense_Mutation_p.V225M	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	242	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.					integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										AGGATCAGCACGAGGCTCACC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19074	0.001		0.0	False		,,,				2504	0.0					ENST00000543600.1																			0											c.(673-675)Gtg>Atg		patched domain containing 4							70.0	72.0	72.0					6																	47976553		2039	4206	6245	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47976553C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.724G>A	6.37:g.47976553C>T	ENSP00000341914:p.Val242Met					PTCHD4_ENST00000339488.4_Missense_Mutation_p.V242M	p.V225M			Q6ZW05	CF138_HUMAN			2	712	-			242					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.673G>A	CCDS34473.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	10.91|10.91	1.484826|1.484826	0.26598|0.26598	.|.	.|.	ENSG00000244694|ENSG00000244694	ENST00000398738|ENST00000339488;ENST00000543600	.|D;D	.|0.93307	.|-3.2;-3.2	6.16|6.16	3.37|3.37	0.38596|0.38596	.|Sterol-sensing domain (1);	.|0.277575	.|0.36591	.|N	.|0.002515	T|T	0.75838|0.75838	0.3904|0.3904	N|N	0.14661|0.14661	0.345|0.345	0.40204|0.40204	D|D	0.977557|0.977557	.|B;B	.|0.17268	.|0.02;0.021	.|B;B	.|0.18871	.|0.023;0.018	T|T	0.72279|0.72279	-0.4340|-0.4340	5|10	.|0.49607	.|T	.|0.09	.|.	5.3307|5.3307	0.15930|0.15930	0.0:0.5563:0.1477:0.296|0.0:0.5563:0.1477:0.296	.|.	.|242;225	.|Q6ZW05;B0QZ29	.|CF138_HUMAN;.	H|M	241|242;225	.|ENSP00000341914:V242M;ENSP00000439864:V225M	.|ENSP00000341914:V242M	R|V	-|-	2|1	0|0	C6orf138|C6orf138	48084512|48084512	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.871000|0.871000	0.50021|0.50021	1.336000|1.336000	0.33850|0.33850	0.905000|0.905000	0.36596|0.36596	0.650000|0.650000	0.86243|0.86243	CGT|GTG		0.562	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		11	49	0	0	0	1	0	11	49				
SRRM1	10250	broad.mit.edu	37	1	24975421	24975421	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:24975421G>A	ENST00000323848.9	+	4	621	c.306G>A	c.(304-306)atG>atA	p.M102I	SRRM1_ENST00000537199.1_Start_Codon_SNP_p.M1I|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.M102I|SRRM1_ENST00000447431.2_Missense_Mutation_p.M102I	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	102	Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI. {ECO:0000255|PROSITE- ProRule:PRU00627}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GAGAATTTATGGGAGAACTGT	0.413																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			0				breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(304-306)atG>atA		serine/arginine repetitive matrix 1							128.0	135.0	133.0					1																	24975421		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24975421G>A	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.306G>A	1.37:g.24975421G>A	ENSP00000326261:p.Met102Ile					SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.M102I|SRRM1_ENST00000447431.2_Missense_Mutation_p.M102I|SRRM1_ENST00000537199.1_Start_Codon_SNP_p.M1I	p.M102I	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	4	621	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	102			Necessary for DNA and RNA-binding.|Necessary for mRNA 3'-end cleavage and cytoplasmic accumulation.|PWI.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.306G>A	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171000	0.78452	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389;ENST00000537199	T;T;T;T	0.41065	1.05;1.05;1.05;1.01	5.68	5.68	0.88126	Splicing factor PWI (5);	0.000000	0.64402	D	0.000001	T	0.60818	0.2298	M	0.83483	2.645	0.80722	D	1	B;B	0.34349	0.396;0.45	B;B	0.43950	0.31;0.437	T	0.63791	-0.6557	10	0.87932	D	0	-2.4043	20.1553	0.98111	0.0:0.0:1.0:0.0	.	102;102	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	I	102;102;102;1	ENSP00000326261:M102I;ENSP00000391430:M102I;ENSP00000363510:M102I;ENSP00000441776:M1I	ENSP00000326261:M102I	M	+	3	0	SRRM1	24848008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.838000	0.97847	0.591000	0.81541	ATG		0.413	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		11	243	0	0	0	1	0	11	243				
MYOF	26509	broad.mit.edu	37	10	95185843	95185843	+	Missense_Mutation	SNP	C	C	T	rs537178114		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:95185843C>T	ENST00000359263.4	-	5	417	c.418G>A	c.(418-420)Gtg>Atg	p.V140M	MYOF_ENST00000371489.1_Missense_Mutation_p.V140M|MYOF_ENST00000358334.5_Missense_Mutation_p.V140M|MYOF_ENST00000371502.4_Missense_Mutation_p.V140M|MYOF_ENST00000371488.3_Missense_Mutation_p.V140M|MYOF_ENST00000371501.4_Missense_Mutation_p.V140M	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	140					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGCCTGGCACGCTGGGCCCG	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18419	0.0		0.0	False		,,,				2504	0.001					ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(418-420)Gtg>Atg		myoferlin							37.0	39.0	38.0					10																	95185843		1949	4120	6069	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95185843C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.418G>A	10.37:g.95185843C>T	ENSP00000352208:p.Val140Met					MYOF_ENST00000371489.1_Missense_Mutation_p.V140M|MYOF_ENST00000359263.4_Missense_Mutation_p.V140M|MYOF_ENST00000371488.3_Missense_Mutation_p.V140M|MYOF_ENST00000358334.5_Missense_Mutation_p.V140M|MYOF_ENST00000371502.4_Missense_Mutation_p.V140M	p.V140M			Q9NZM1	MYOF_HUMAN			5	540	-			140					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.418G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818653	0.32145	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489;ENST00000371488	D;D;D;D;D;T	0.83755	-1.76;-1.76;-1.76;-1.76;-1.56;-0.03	6.16	-4.43	0.03568	.	1.297410	0.04594	N	0.397232	T	0.75635	0.3876	L	0.48642	1.525	0.09310	N	1	B;B;B	0.24576	0.106;0.015;0.046	B;B;B	0.17979	0.02;0.01;0.005	T	0.61113	-0.7128	10	0.46703	T	0.11	0.0481	8.8624	0.35265	0.1032:0.3256:0.0:0.5712	.	122;140;140	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	M	140	ENSP00000351094:V140M;ENSP00000352208:V140M;ENSP00000360556:V140M;ENSP00000360557:V140M;ENSP00000360544:V140M;ENSP00000360543:V140M	ENSP00000351094:V140M	V	-	1	0	MYOF	95175833	0.000000	0.05858	0.000000	0.03702	0.892000	0.51952	-2.205000	0.01232	-0.888000	0.03956	0.650000	0.86243	GTG		0.562	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		3	1	0	0	0	1	0	3	1				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	98	0	0	0	1	0	7	98				
SAGE1	55511	broad.mit.edu	37	X	134993931	134993931	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:134993931T>G	ENST00000370709.3	+	17	2340	c.2340T>G	c.(2338-2340)gaT>gaG	p.D780E	SAGE1_ENST00000537770.1_Missense_Mutation_p.D404E|SAGE1_ENST00000535938.1_Missense_Mutation_p.D780E|SAGE1_ENST00000324447.3_Missense_Mutation_p.D780E			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	780						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACAAACCTGATAGTAATGAAT	0.428																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2338-2340)gaT>gaG		sarcoma antigen 1							143.0	135.0	138.0					X																	134993931		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134993931T>G	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2340T>G	X.37:g.134993931T>G	ENSP00000359743:p.Asp780Glu					SAGE1_ENST00000324447.3_Missense_Mutation_p.D780E|SAGE1_ENST00000537770.1_Missense_Mutation_p.D404E|SAGE1_ENST00000370709.3_Missense_Mutation_p.D780E	p.D780E	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			18	2507	+	Acute lymphoblastic leukemia(192;0.000127)		780					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2340T>G	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.670266	0.29693	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.30714	1.52;1.52;1.56;1.52	2.67	1.37	0.22104	.	0.436911	0.24561	U	0.037474	T	0.33177	0.0854	L	0.47716	1.5	0.09310	N	1	P;D	0.64830	0.892;0.994	P;P	0.54706	0.641;0.759	T	0.17018	-1.0383	10	0.25106	T	0.35	.	7.5659	0.27879	0.0:0.0:0.2157:0.7843	.	404;780	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	E	780;780;404;780	ENSP00000323191:D780E;ENSP00000445959:D780E;ENSP00000438276:D404E;ENSP00000359743:D780E	ENSP00000323191:D780E	D	+	3	2	SAGE1	134821597	0.000000	0.05858	0.001000	0.08648	0.194000	0.23727	0.267000	0.18552	-0.007000	0.14345	0.150000	0.16122	GAT		0.428	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		27	138	0	0	0	1	0	27	138				
GLOD4	51031	broad.mit.edu	37	17	663455	663455	+	Silent	SNP	G	G	A	rs116004401	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:663455G>A	ENST00000301328.5	-	10	923	c.900C>T	c.(898-900)gaC>gaT	p.D300D	GLOD4_ENST00000536578.1_Silent_p.D276D|GLOD4_ENST00000301329.6_Silent_p.D285D|GLOD4_ENST00000575800.1_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	300						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CAAACCACTCGTCACTTTTAT	0.438													G|||	8	0.00159744	0.0053	0.0	5008	,	,		15959	0.0		0.0	False		,,,				2504	0.001					ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(853-855)gaC>gaT		glyoxalase domain containing 4		G		4,4402	8.1+/-20.4	0,4,2199	198.0	160.0	173.0		855	-5.2	1.0	17	dbSNP_132	173	0,8600		0,0,4300	no	coding-synonymous	GLOD4	NM_016080.3		0,4,6499	AA,AG,GG		0.0,0.0908,0.0308		285/299	663455	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51031					mitochondrion		g.chr17:663455G>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.900C>T	17.37:g.663455G>A						GLOD4_ENST00000301328.5_Silent_p.D300D|GLOD4_ENST00000536578.1_Silent_p.D276D	p.D285D	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	9	940	-			300					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	ENST00000301328.5	37	c.855C>T																																																																																					0.438	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		9	65	0	0	0	1	0	9	65				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		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.chr17:7577121G>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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	p.R273C	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	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	14	0	0	0	1	0	9	14				
BTNL3	10917	broad.mit.edu	37	5	180432528	180432528	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:180432528T>A	ENST00000342868.6	+	8	1241	c.1057T>A	c.(1057-1059)Tgg>Agg	p.W353R	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	353	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AAATGTAGGGTGGTATGTGGG	0.493																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(1057-1059)Tgg>Agg		butyrophilin-like 3							175.0	192.0	186.0					5																	180432528		2198	4297	6495	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432528T>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1057T>A	5.37:g.180432528T>A	ENSP00000341787:p.Trp353Arg						p.W353R	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1241	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	353			B30.2/SPRY.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.1057T>A	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401575	0.62288	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.67523	-0.27	3.0	3.0	0.34707	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.86008	0.5830	H	0.96861	3.895	0.29940	N	0.821119	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.81450	-0.0927	9	0.66056	D	0.02	.	9.3733	0.38268	0.0:0.0:0.0:1.0	.	319;353	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	R	353;319	ENSP00000341787:W353R	ENSP00000341787:W353R	W	+	1	0	BTNL3	180365134	1.000000	0.71417	0.006000	0.13384	0.161000	0.22273	4.602000	0.61098	1.152000	0.42452	0.164000	0.16699	TGG		0.493	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		37	88	0	0	0	1	0	37	88				
TLE4	7091	broad.mit.edu	37	9	82242351	82242351	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr9:82242351C>T	ENST00000376552.2	+	6	1396	c.378C>T	c.(376-378)aaC>aaT	p.N126N	TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376544.3_Silent_p.N126N|TLE4_ENST00000376537.4_Silent_p.N126N|TLE4_ENST00000376520.4_Silent_p.N126N|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	126	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGAACTGAACGCCATCATTG	0.458																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(376-378)aaC>aaT		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							181.0	190.0	187.0					9																	82242351		2198	4300	6498	SO:0001819	synonymous_variant	7091							g.chr9:82242351C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.378C>T	9.37:g.82242351C>T						TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376544.3_Silent_p.N126N|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Silent_p.N126N|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376537.4_Silent_p.N126N	p.N126N			O60756	BCE1_HUMAN			6	1206	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Silent	SNP	ENST00000376552.2	37	c.378C>T	CCDS43837.1																																																																																				0.458	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		5	107	0	0	0	1	0	5	107				
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412.0	337.0	362.0					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	699	0	0	0	1	0	7	699				
PAPD4	167153	broad.mit.edu	37	5	78919187	78919187	+	Silent	SNP	A	A	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:78919187A>C	ENST00000296783.3	+	5	639	c.340A>C	c.(340-342)Aga>Cga	p.R114R	PAPD4_ENST00000453514.1_Silent_p.R114R|PAPD4_ENST00000428308.2_Silent_p.R114R|PAPD4_ENST00000423041.2_Silent_p.R114R|PAPD4_ENST00000504233.1_Silent_p.R114R			Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	114					hematopoietic progenitor cell differentiation (GO:0002244)|histone mRNA catabolic process (GO:0071044)|mRNA processing (GO:0006397)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|nuclear RNA-directed RNA polymerase complex (GO:0031380)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		AGGTGAACGAAGATACTCAAT	0.398																																						ENST00000453514.1																			0				biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(340-342)Aga>Cga		PAP associated domain containing 4							184.0	165.0	171.0					5																	78919187		2203	4300	6503	SO:0001819	synonymous_variant	167153				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity	g.chr5:78919187A>C	AL833136	CCDS4048.1, CCDS75265.1, CCDS75266.1	5q14.1	2014-03-21			ENSG00000164329	ENSG00000164329			26776	protein-coding gene	gene with protein product	"""TUTase2"""	614121				12477932	Standard	NM_173797		Approved	FLJ38499, GLD2, TUT2	uc003kgb.2	Q6PIY7	OTTHUMG00000108163	ENST00000296783.3:c.340A>C	5.37:g.78919187A>C						PAPD4_ENST00000504233.1_Silent_p.R114R|PAPD4_ENST00000428308.2_Silent_p.R114R|PAPD4_ENST00000296783.3_Silent_p.R114R|PAPD4_ENST00000423041.2_Silent_p.R114R	p.R114R	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)	4	1033	+		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)	114					Q86WZ2|Q8N927	Silent	SNP	ENST00000296783.3	37	c.340A>C	CCDS4048.1																																																																																				0.398	PAPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226967.1	NM_173797		5	190	0	0	0	1	0	5	190				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		6	83	0	0	0	1	0	6	83				
ZNF730	100129543	broad.mit.edu	37	19	23318760	23318760	+	Silent	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:23318760C>G	ENST00000597761.2	+	3	340	c.141C>G	c.(139-141)gtC>gtG	p.V47V	ZNF730_ENST00000593635.1_Silent_p.V15V	NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						GTATTGCTGTCTCAAAGCCAG	0.383																																						ENST00000597761.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						c.(139-141)gtC>gtG		zinc finger protein 730																																				SO:0001819	synonymous_variant	100129543							g.chr19:23318760C>G	AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.141C>G	19.37:g.23318760C>G						ZNF730_ENST00000593635.1_Silent_p.V15V	p.V47V	NM_001277403.1	NP_001264332.1					3	340	+									Silent	SNP	ENST00000597761.2	37	c.141C>G	CCDS59371.1																																																																																				0.383	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465737.2	XM_001719792		5	102	0	0	0	1	0	5	102				
ARHGAP29	9411	broad.mit.edu	37	1	94640187	94640187	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:94640187C>T	ENST00000260526.6	-	23	3206	c.3024G>A	c.(3022-3024)agG>agA	p.R1008R	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1008					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGGAGTATGCCTCTCCACAT	0.418																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(3022-3024)agG>agA		Rho GTPase activating protein 29							131.0	127.0	128.0					1																	94640187		2203	4300	6503	SO:0001819	synonymous_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94640187C>T		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3024G>A	1.37:g.94640187C>T							p.R1008R	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	23	3206	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	1008					O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Silent	SNP	ENST00000260526.6	37	c.3024G>A	CCDS748.1																																																																																				0.418	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815		4	151	0	0	0	1	0	4	151				
SLC25A19	60386	broad.mit.edu	37	17	73273487	73273487	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:73273487T>A	ENST00000402418.3	-	5	1630	c.721A>T	c.(721-723)Aag>Tag	p.K241*	SLC25A19_ENST00000580994.1_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000416858.2_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000375261.4_Nonsense_Mutation_p.K184*|SLC25A19_ENST00000442286.2_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000320362.3_Nonsense_Mutation_p.K241*			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	241					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			AGCCGCTTCTTGAAGAGGTCC	0.557																																						ENST00000402418.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(721-723)Aag>Tag		solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19							97.0	81.0	86.0					17																	73273487		2203	4300	6503	SO:0001587	stop_gained	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73273487T>A		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.721A>T	17.37:g.73273487T>A	ENSP00000385312:p.Lys241*					SLC25A19_ENST00000416858.2_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000320362.3_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000442286.2_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000580994.1_Nonsense_Mutation_p.K241*|SLC25A19_ENST00000375261.4_Nonsense_Mutation_p.K184*	p.K241*			Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		5	1630	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		241					E9PF74|Q6V9R7	Nonsense_Mutation	SNP	ENST00000402418.3	37	c.721A>T	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	T	38	6.862422	0.97893	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-24.4542	15.0367	0.71754	0.0:0.0:0.0:1.0	.	.	.	.	X	241;241;241;241;184	.	ENSP00000319574:K241X	K	-	1	0	SLC25A19	70785082	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.698000	0.84413	2.033000	0.60031	0.528000	0.53228	AAG		0.557	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734		9	92	0	0	0	1	0	9	92				
GPR182	11318	broad.mit.edu	37	12	57389177	57389177	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:57389177G>A	ENST00000300098.1	+	2	403	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	62					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CCTCTACCTGGCCATGTTTGT	0.587																																						ENST00000300098.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(184-186)Gcc>Acc		G protein-coupled receptor 182							195.0	179.0	184.0					12																	57389177		2203	4300	6503	SO:0001583	missense	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389177G>A	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.184G>A	12.37:g.57389177G>A	ENSP00000300098:p.Ala62Thr						p.A62T	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN			2	403	+			62						Missense_Mutation	SNP	ENST00000300098.1	37	c.184G>A	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.975788	0.53720	.	.	ENSG00000166856	ENST00000300098	T	0.37235	1.21	4.5	3.6	0.41247	.	0.338283	0.27433	N	0.019392	T	0.28665	0.0710	L	0.32530	0.975	0.28460	N	0.915922	P	0.48764	0.915	B	0.41764	0.366	T	0.15464	-1.0436	10	0.66056	D	0.02	.	11.8035	0.52141	0.0:0.0:0.8229:0.1771	.	62	O15218	GP182_HUMAN	T	62	ENSP00000300098:A62T	ENSP00000300098:A62T	A	+	1	0	GPR182	55675444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.338000	0.33873	1.229000	0.43630	0.561000	0.74099	GCC		0.587	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264		4	126	0	0	0	1	0	4	126				
AFP	174	broad.mit.edu	37	4	74301968	74301968	+	De_novo_Start_OutOfFrame	SNP	T	T	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:74301968T>G	ENST00000395792.2	+	0	89				AFP_ENST00000226359.2_De_novo_Start_OutOfFrame	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein						ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATAACAAAATAACTAGCAAC	0.333									Alpha-Fetoprotein, Hereditary Persistence of																													ENST00000395792.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22								alpha-fetoprotein							53.0	55.0	54.0					4																	74301968		2203	4298	6501			174	Alpha-Fetoprotein, Hereditary Persistence of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74301968T>G	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.-12T>G	4.37:g.74301968T>G						AFP_ENST00000226359.2_De_novo_Start_OutOfFrame		NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		0	89	+	Breast(15;0.00102)							B2RBU3	Translation_Start_Site	SNP	ENST00000395792.2	37		CCDS3556.1																																																																																				0.333	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			22	25	0	0	0	1	0	22	25				
MECP2	4204	broad.mit.edu	37	X	153297774	153297774	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:153297774G>A	ENST00000303391.6	-	3	510	c.261C>T	c.(259-261)atC>atT	p.I87I	MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000407218.1_Silent_p.I87I|MECP2_ENST00000453960.2_Silent_p.I99I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	87					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCACGGATGATGGAGCGCC	0.617																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(259-261)atC>atT		methyl CpG binding protein 2 (Rett syndrome)							87.0	85.0	86.0					X																	153297774		2203	4300	6503	SO:0001819	synonymous_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153297774G>A	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.261C>T	X.37:g.153297774G>A						MECP2_ENST00000453960.2_Silent_p.I99I|MECP2_ENST00000407218.1_Silent_p.I87I	p.I87I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			3	510	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		87					O15233|Q6QHH9|Q7Z384	Silent	SNP	ENST00000303391.6	37	c.261C>T	CCDS14741.1																																																																																				0.617	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		110	3	0	0	0	1	0	110	3				
PNPLA6	10908	broad.mit.edu	37	19	7606923	7606923	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:7606923C>T	ENST00000221249.6	+	13	1536	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R369C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R369C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R417C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R408C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	408					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTGCTGAGCCGCTGCGTCTC	0.642																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1105-1107)Cgc>Tgc		patatin-like phospholipase domain containing 6							50.0	50.0	50.0					19																	7606923		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7606923C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1105C>T	19.37:g.7606923C>T	ENSP00000221249:p.Arg369Cys					PNPLA6_ENST00000414982.3_Missense_Mutation_p.R417C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R369C|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R369C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R408C	p.R369C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			13	1536	+			408					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1105C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292163	0.80914	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000544207;ENST00000450331	T;T;T;T	0.05382	3.55;3.45;3.52;3.55	5.63	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	M	0.73962	2.25	0.58432	D	0.999999	D;B;B;B	0.89917	1.0;0.424;0.424;0.247	D;B;B;B	0.65140	0.932;0.119;0.17;0.082	T	0.00062	-1.2157	10	0.52906	T	0.07	.	12.0561	0.53536	0.1707:0.8293:0.0:0.0	.	408;369;408;369	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	C	369;369;417;306;369	ENSP00000221249:R369C;ENSP00000443323:R369C;ENSP00000407509:R417C;ENSP00000394348:R369C	ENSP00000221249:R369C	R	+	1	0	PNPLA6	7512923	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	1.766000	0.38491	2.659000	0.90383	0.655000	0.94253	CGC		0.642	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		28	35	0	0	0	1	0	28	35				
ARGFX	503582	broad.mit.edu	37	3	121303779	121303779	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:121303779A>G	ENST00000334384.3	+	3	246	c.236A>G	c.(235-237)cAt>cGt	p.H79R		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CGGAGAAGGCATAAAGAACGT	0.418																																						ENST00000334384.3																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(235-237)cAt>cGt		arginine-fifty homeobox							192.0	178.0	183.0					3																	121303779		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121303779A>G		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.236A>G	3.37:g.121303779A>G	ENSP00000335578:p.His79Arg						p.H79R	NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	3	246	+			79						Missense_Mutation	SNP	ENST00000334384.3	37	c.236A>G	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.929574	0.00488	.	.	ENSG00000186103	ENST00000334384	D	0.94457	-3.43	3.09	-2.12	0.07165	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	1.835690	0.03153	N	0.168309	D	0.82453	0.5040	N	0.04355	-0.22	0.09310	N	1	B	0.21905	0.062	B	0.20955	0.032	T	0.79354	-0.1838	10	0.02654	T	1	2.299	3.8877	0.09105	0.4082:0.2115:0.3803:0.0	.	79	A6NJG6	ARGFX_HUMAN	R	79	ENSP00000335578:H79R	ENSP00000335578:H79R	H	+	2	0	ARGFX	122786469	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.576000	0.02129	-0.439000	0.07222	0.454000	0.30748	CAT		0.418	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		134	123	0	0	0	1	0	134	123				
AGMAT	79814	broad.mit.edu	37	1	15905421	15905421	+	Missense_Mutation	SNP	C	C	T	rs567003177		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:15905421C>T	ENST00000375826.3	-	4	795	c.653G>A	c.(652-654)cGt>cAt	p.R218H	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	218					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	agmatinase activity (GO:0008783)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACCACACGCTTACAGTC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17001	0.0		0.0	False		,,,				2504	0.0				NSCLC(126;1678 1780 25805 43508 49531)	ENST00000375826.3																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12						c.(652-654)cGt>cAt		agmatine ureohydrolase (agmatinase)							78.0	75.0	76.0					1																	15905421		2203	4300	6503	SO:0001583	missense	79814				putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding	g.chr1:15905421C>T	AY057097	CCDS160.1	1p36.13	2009-01-05			ENSG00000116771	ENSG00000116771			18407	protein-coding gene	gene with protein product						11804860, 14648699, 11914032	Standard	NM_024758		Approved	FLJ23384	uc001awv.2	Q9BSE5	OTTHUMG00000002357	ENST00000375826.3:c.653G>A	1.37:g.15905421C>T	ENSP00000364986:p.Arg218His					DNAJC16_ENST00000483270.1_Intron	p.R218H	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)	4	795	-		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	218					Q5TDH1|Q9H5J3	Missense_Mutation	SNP	ENST00000375826.3	37	c.653G>A	CCDS160.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207066	0.95033	.	.	ENSG00000116771	ENST00000375826	T	0.30981	1.51	5.87	4.96	0.65561	Ureohydrolase domain (1);	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.64080	1.96	0.54753	D	0.999985	D	0.54772	0.968	P	0.54924	0.764	T	0.47636	-0.9102	10	0.72032	D	0.01	-17.5795	13.6484	0.62297	0.0:0.9257:0.0:0.0743	.	218	Q9BSE5	SPEB_HUMAN	H	218	ENSP00000364986:R218H	ENSP00000364986:R218H	R	-	2	0	AGMAT	15778008	1.000000	0.71417	0.505000	0.27651	0.958000	0.62258	7.005000	0.76323	1.496000	0.48567	0.650000	0.86243	CGT		0.627	AGMAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006763.1	NM_024758		28	20	0	0	0	1	0	28	20				
PSG4	5672	broad.mit.edu	37	19	43702219	43702219	+	Silent	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:43702219T>C	ENST00000405312.3	-	3	876	c.639A>G	c.(637-639)ggA>ggG	p.G213G	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Silent_p.G213G	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	213	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATTCATAGGGTCCTGCAATAT	0.507																																						ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(637-639)ggA>ggG		pregnancy specific beta-1-glycoprotein 4							69.0	84.0	79.0					19																	43702219		2128	4268	6396	SO:0001819	synonymous_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43702219T>C		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.639A>G	19.37:g.43702219T>C						PSG4_ENST00000244295.9_Silent_p.G213G|PSG4_ENST00000433626.2_Intron	p.G213G	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			3	876	-		Prostate(69;0.00682)	213			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	c.639A>G	CCDS46093.1																																																																																				0.507	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		14	131	0	0	0	1	0	14	131				
SFMBT1	51460	broad.mit.edu	37	3	52940182	52940182	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:52940182G>A	ENST00000394752.3	-	20	2789	c.2407C>T	c.(2407-2409)Cgg>Tgg	p.R803W	SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W|SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	803	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CTGATGAACCGCACAACGTCT	0.418																																						ENST00000394752.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24						c.(2407-2409)Cgg>Tgg		Scm-like with four mbt domains 1							149.0	129.0	136.0					3																	52940182		2203	4300	6503	SO:0001583	missense	51460				regulation of transcription, DNA-dependent	nucleus		g.chr3:52940182G>A	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2407C>T	3.37:g.52940182G>A	ENSP00000378235:p.Arg803Trp					SFMBT1_ENST00000394750.1_Missense_Mutation_p.R803W|SFMBT1_ENST00000358080.2_Missense_Mutation_p.R803W|SFMBT1_ENST00000296295.6_Intron	p.R803W	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)	20	2789	-			803			SAM.		Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	c.2407C>T	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	G	34	5.412970	0.96072	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000394750	T;T;T	0.50813	0.73;0.73;0.73	5.85	5.85	0.93711	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	L	0.45352	1.415	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64816	-0.6318	10	0.87932	D	0	.	20.1649	0.98147	0.0:0.0:1.0:0.0	.	803	Q9UHJ3	SMBT1_HUMAN	W	803	ENSP00000378235:R803W;ENSP00000350789:R803W;ENSP00000378233:R803W	ENSP00000350789:R803W	R	-	1	2	SFMBT1	52915222	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	6.624000	0.74243	2.753000	0.94483	0.655000	0.94253	CGG		0.418	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329		4	104	0	0	0	1	0	4	104				
FABP3	2170	broad.mit.edu	37	1	31842368	31842368	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:31842368G>C	ENST00000373713.2	-	2	171	c.110C>G	c.(109-111)aCc>aGc	p.T37S	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	37					cholesterol homeostasis (GO:0042632)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid import (GO:0044539)|negative regulation of cell proliferation (GO:0008285)|phospholipid homeostasis (GO:0055091)|positive regulation of phospholipid biosynthetic process (GO:0071073)|regulation of fatty acid oxidation (GO:0046320)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to insulin (GO:0032868)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasm (GO:0016528)	cytoskeletal protein binding (GO:0008092)|icosatetraenoic acid binding (GO:0050543)|long-chain fatty acid binding (GO:0036041)|long-chain fatty acid transporter activity (GO:0005324)|oleic acid binding (GO:0070538)			large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		GGTAGGCTTGGTCATGCTGGC	0.493																																						ENST00000373713.2																			0				large_intestine(1)|lung(2)|ovary(2)	5						c.(109-111)aCc>aGc		fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)							287.0	249.0	262.0					1																	31842368		2203	4300	6503	SO:0001583	missense	2170				negative regulation of cell proliferation			g.chr1:31842368G>C	U57623	CCDS342.1	1p33-p32	2013-03-01	2003-09-10		ENSG00000121769	ENSG00000121769		"""Fatty acid binding protein family"""	3557	protein-coding gene	gene with protein product		134651	"""fatty acid binding protein 11"""	MDGI, FABP11		8661024	Standard	NM_004102		Approved	H-FABP, O-FABP	uc001bss.1	P05413	OTTHUMG00000003797	ENST00000373713.2:c.110C>G	1.37:g.31842368G>C	ENSP00000362817:p.Thr37Ser					FABP3_ENST00000497275.1_5'UTR	p.T37S	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)	2	171	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	37					B2RAB6|Q5VV93|Q99957	Missense_Mutation	SNP	ENST00000373713.2	37	c.110C>G	CCDS342.1	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170507	0.57584	.	.	ENSG00000121769	ENST00000373713	T	0.07908	3.15	5.0	5.0	0.66597	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.043068	0.85682	D	0.000000	T	0.22003	0.0530	L	0.39566	1.225	0.51012	D	0.999909	P	0.40875	0.731	P	0.60286	0.872	T	0.00220	-1.1906	10	0.59425	D	0.04	.	18.4939	0.90856	0.0:0.0:1.0:0.0	.	37	P05413	FABPH_HUMAN	S	37	ENSP00000362817:T37S	ENSP00000362817:T37S	T	-	2	0	FABP3	31614955	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.240000	0.65378	2.770000	0.95276	0.650000	0.86243	ACC		0.493	FABP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010683.1	NM_004102		22	85	0	0	0	1	0	22	85				
RIN3	79890	broad.mit.edu	37	14	93043731	93043731	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:93043731C>T	ENST00000216487.7	+	3	435	c.276C>T	c.(274-276)agC>agT	p.S92S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	92	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGGACAGCAGCTCGAAGCAGC	0.512																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(274-276)agC>agT		Ras and Rab interactor 3							160.0	162.0	161.0					14																	93043731		2203	4300	6503	SO:0001819	synonymous_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93043731C>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.276C>T	14.37:g.93043731C>T						RIN3_ENST00000418924.2_3'UTR	p.S92S	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			3	435	+		all_cancers(154;0.0701)	92			SH2.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	c.276C>T	CCDS32144.1																																																																																				0.512	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			143	122	0	0	0	1	0	143	122				
C3orf58	205428	broad.mit.edu	37	3	143708579	143708579	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:143708579G>C	ENST00000315691.3	+	3	1724	c.1189G>C	c.(1189-1191)Gcc>Ccc	p.A397P	C3orf58_ENST00000441925.2_Missense_Mutation_p.A159P|C3orf58_ENST00000495414.1_Missense_Mutation_p.A188P|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	397					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGCTCGAGGCCTTGCTGGA	0.507																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1189-1191)Gcc>Ccc		chromosome 3 open reading frame 58							91.0	93.0	92.0					3																	143708579		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143708579G>C	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1189G>C	3.37:g.143708579G>C	ENSP00000320081:p.Ala397Pro					C3orf58_ENST00000495414.1_Missense_Mutation_p.A188P|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.A159P	p.A397P	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			3	1724	+			397					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.1189G>C	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.372507	0.42003	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.33216	1.42	5.91	5.91	0.95273	.	0.052807	0.85682	D	0.000000	T	0.41604	0.1166	L	0.52759	1.655	0.80722	D	1	P;P	0.48503	0.538;0.911	B;P	0.49421	0.178;0.61	T	0.02431	-1.1160	10	0.31617	T	0.26	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	188;397	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	P	397;188;203;159	ENSP00000320081:A397P	ENSP00000320081:A397P	A	+	1	0	C3orf58	145191269	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.283000	0.72646	2.793000	0.96121	0.655000	0.94253	GCC		0.507	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		29	43	0	0	0	1	0	29	43				
GPAA1	8733	broad.mit.edu	37	8	145138841	145138841	+	Splice_Site	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:145138841G>C	ENST00000355091.4	+	5	635		c.e5-1		GPAA1_ENST00000527144.1_Splice_Site|GPAA1_ENST00000361036.6_Splice_Site	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1						attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGCCTCCAGGGCAGATTTA	0.577																																						ENST00000355091.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19						c.e5-1		glycosylphosphatidylinositol anchor attachment 1							89.0	93.0	92.0					8																	145138841		2065	4198	6263	SO:0001630	splice_region_variant	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145138841G>C	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.515-1G>C	8.37:g.145138841G>C						GPAA1_ENST00000361036.6_Splice_Site|GPAA1_ENST00000527144.1_Splice_Site		NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	635	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							Q9NSS0|Q9UQ31	Splice_Site	SNP	ENST00000355091.4	37		CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.906395	0.52333	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000361036	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0012	0.86381	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPAA1	145210829	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	7.110000	0.77069	2.612000	0.88384	0.561000	0.74099	.		0.577	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801	Intron	5	88	0	0	0	1	0	5	88				
SGCD	6444	broad.mit.edu	37	5	156184747	156184747	+	Intron	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:156184747G>C	ENST00000435422.3	+	7	1183				SGCD_ENST00000337851.4_Intron|SGCD_ENST00000517913.1_Missense_Mutation_p.S244T|SGCD_ENST00000447401.1_Missense_Mutation_p.S244T	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)						muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTTCAAAGAGCTACAGCTTC	0.478																																						ENST00000447401.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24						c.(730-732)aGc>aCc		sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)							79.0	81.0	80.0					5																	156184747		1969	4162	6131	SO:0001627	intron_variant	6444				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		g.chr5:156184747G>C	BX537948	CCDS47325.1, CCDS47326.1, CCDS47327.1	5q33-q34	2014-09-17	2002-08-29						10807	protein-coding gene	gene with protein product		601411	"""sarcoglycan, delta (35kD dystrophin-associated glycoprotein)"""			8776597, 8841194, 10974018	Standard	NM_000337		Approved	DAGD, LGMD2F, CMD1L	uc003lwd.4	Q92629		ENST00000435422.3:c.696+32G>C	5.37:g.156184747G>C						SGCD_ENST00000517913.1_Missense_Mutation_p.S244T|SGCD_ENST00000435422.3_Intron|SGCD_ENST00000337851.4_Intron	p.S244T	NM_172244.2	NP_758447.1	Q92629	SGCD_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		8	1250	+	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	0					A8K9S9|Q53XA5|Q99644	Missense_Mutation	SNP	ENST00000435422.3	37	c.731G>C	CCDS47327.1	.	.	.	.	.	.	.	.	.	.	G	9.032	0.987563	0.18966	.	.	ENSG00000170624	ENST00000517913;ENST00000447401	T;T	0.32753	1.44;1.44	3.65	-1.01	0.10169	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34925	-0.9809	8	0.02654	T	1	.	5.1429	0.14969	0.3463:0.3477:0.3061:0.0	.	244	Q92629-3	.	T	244	ENSP00000429378:S244T;ENSP00000408324:S244T	ENSP00000408324:S244T	S	+	2	0	SGCD	156117325	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.487000	0.06505	-0.222000	0.09958	-0.137000	0.14449	AGC		0.478	SGCD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000373469.3			4	4	0	0	0	1	0	4	4				
MYO5A	4644	broad.mit.edu	37	15	52646154	52646154	+	Silent	SNP	G	G	T	rs376711165		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:52646154G>T	ENST00000399231.3	-	26	3724	c.3481C>A	c.(3481-3483)Cgg>Agg	p.R1161R	MYO5A_ENST00000399233.2_Silent_p.R1161R|MYO5A_ENST00000356338.6_Silent_p.R1161R|MYO5A_ENST00000358212.6_Silent_p.R1161R|MYO5A_ENST00000553916.1_Silent_p.R1161R	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1161					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTGTGACCCGCTTCTGGAGC	0.552																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(3481-3483)Cgg>Agg		myosin VA (heavy chain 12, myoxin)							112.0	118.0	116.0					15																	52646154		2046	4200	6246	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52646154G>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.3481C>A	15.37:g.52646154G>T						MYO5A_ENST00000553916.1_Silent_p.R1161R|MYO5A_ENST00000358212.6_Silent_p.R1161R|MYO5A_ENST00000356338.6_Silent_p.R1161R|MYO5A_ENST00000399233.2_Silent_p.R1161R	p.R1161R	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	26	3724	-			1161					A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.3481C>A	CCDS42037.1																																																																																				0.552	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		52	61	1	0	4.88482e-21	1	5.48144e-21	52	61				
HNF1A	6927	broad.mit.edu	37	12	121434170	121434170	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:121434170C>T	ENST00000257555.6	+	5	1287	c.1061C>T	c.(1060-1062)aCg>aTg	p.T354M	HNF1A_ENST00000402929.1_Missense_Mutation_p.T354M|HNF1A_ENST00000543427.1_Missense_Mutation_p.T237M|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.T354M|HNF1A_ENST00000400024.2_Missense_Mutation_p.T354M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T354M			P20823	HNF1A_HUMAN	HNF1 homeobox A	354					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGTCCCCCACGGGCCTGGAG	0.587									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CM002867	HNF1A	M		c.(1060-1062)aCg>aTg		HNF1 homeobox A							94.0	88.0	90.0					12																	121434170		2203	4300	6503	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121434170C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1061C>T	12.37:g.121434170C>T	ENSP00000257555:p.Thr354Met					HNF1A_ENST00000402929.1_Missense_Mutation_p.T354M|HNF1A_ENST00000544413.1_Missense_Mutation_p.T354M|HNF1A_ENST00000543427.1_Missense_Mutation_p.T237M|HNF1A_ENST00000400024.2_Missense_Mutation_p.T354M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T354M|HNF1A_ENST00000538626.1_Intron	p.T354M			P20823	HNF1A_HUMAN			5	1287	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		354					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.1061C>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476752	0.63849	.	.	ENSG00000135100	ENST00000257555;ENST00000543536;ENST00000544680;ENST00000537424;ENST00000543427;ENST00000545458;ENST00000541395;ENST00000340577;ENST00000344370;ENST00000544413	D;D;D;D	0.97303	-4.33;-4.33;-4.33;-4.33	5.06	5.06	0.68205	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.265148	0.32473	N	0.006052	D	0.96605	0.8892	L	0.29908	0.895	0.26686	N	0.971447	D;D;D;D	0.69078	0.993;0.99;0.997;0.995	P;P;P;P	0.59595	0.707;0.806;0.86;0.86	D	0.92544	0.6044	10	0.49607	T	0.09	-8.3781	17.4803	0.87671	0.0:1.0:0.0:0.0	.	354;354;354;354	F5H0K0;P20823;E7EUQ4;E7EMR0	.;HNF1A_HUMAN;.;.	M	354;354;354;354;237;354;354;354;354;354	ENSP00000257555:T354M;ENSP00000439721:T237M;ENSP00000443112:T354M;ENSP00000438804:T354M	ENSP00000257555:T354M	T	+	2	0	HNF1A	119918553	0.827000	0.29292	0.995000	0.50966	0.976000	0.68499	1.493000	0.35605	2.373000	0.80994	0.638000	0.83543	ACG		0.587	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		6	85	0	0	0	1	0	6	85				
F2RL3	9002	broad.mit.edu	37	19	17000886	17000886	+	Silent	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:17000886G>T	ENST00000248076.3	+	2	942	c.612G>T	c.(610-612)gcG>gcT	p.A204A	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	204					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGCTCATGGCGGCCGCCCTGG	0.736																																						ENST00000248076.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(610-612)gcG>gcT		coagulation factor II (thrombin) receptor-like 3							10.0	12.0	11.0					19																	17000886		2115	4131	6246	SO:0001819	synonymous_variant	9002				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity	g.chr19:17000886G>T	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.612G>T	19.37:g.17000886G>T						F2RL3_ENST00000599210.1_3'UTR	p.A204A	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN			2	942	+			204					O76067|Q6DK42	Silent	SNP	ENST00000248076.3	37	c.612G>T	CCDS12350.1																																																																																				0.736	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462875.1			3	49	1	0	0.00024832	1	0.000258887	3	49				
MCM10	55388	broad.mit.edu	37	10	13234303	13234303	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:13234303T>C	ENST00000484800.2	+	12	1671	c.1568T>C	c.(1567-1569)aTg>aCg	p.M523T	MCM10_ENST00000378714.3_Missense_Mutation_p.M522T|MCM10_ENST00000378694.1_Missense_Mutation_p.M522T			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	523					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAGGAACTGATGGACCTGCCG	0.512																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(1564-1566)aTg>aCg		minichromosome maintenance complex component 10							119.0	99.0	106.0					10																	13234303		2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13234303T>C	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1568T>C	10.37:g.13234303T>C	ENSP00000418268:p.Met523Thr					MCM10_ENST00000378714.3_Missense_Mutation_p.M522T|MCM10_ENST00000484800.2_Missense_Mutation_p.M523T	p.M522T			Q7L590	MCM10_HUMAN			11	1640	+			523					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.1565T>C	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.237788	0.79800	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.30714	1.52;1.52;1.52	5.52	5.52	0.82312	Replication factor Mcm10 (1);	0.068783	0.85682	D	0.000000	T	0.44138	0.1279	M	0.71581	2.175	0.80722	D	1	P;D;D	0.55172	0.936;0.962;0.97	P;P;P	0.54026	0.74;0.604;0.725	T	0.39035	-0.9633	10	0.09338	T	0.73	-12.4558	15.6633	0.77206	0.0:0.0:0.0:1.0	.	522;522;523	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	T	522;523;523;522	ENSP00000367986:M522T;ENSP00000418268:M523T;ENSP00000367966:M522T	ENSP00000354945:M523T	M	+	2	0	MCM10	13274309	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.088000	0.76901	2.100000	0.63781	0.523000	0.50628	ATG		0.512	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		15	50	0	0	0	1	0	15	50				
PPP2R2B	5521	broad.mit.edu	37	5	146030116	146030116	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:146030116T>C	ENST00000394413.3	-	5	1189	c.619A>G	c.(619-621)Agt>Ggt	p.S207G	PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S213G|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S196G|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S207G|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S207G|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S210G|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S265G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S273G|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S196G|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S207G			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	207					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATACTAAAACTTTGATTGGTT	0.388																																						ENST00000394413.3																			0				endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(619-621)Agt>Ggt		protein phosphatase 2, regulatory subunit B, beta							117.0	106.0	110.0					5																	146030116		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146030116T>C	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.619A>G	5.37:g.146030116T>C	ENSP00000377935:p.Ser207Gly					PPP2R2B_ENST00000453001.1_Missense_Mutation_p.S207G|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.S207G|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.S207G|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.S265G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.S196G|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.S210G|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.S213G|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.S196G|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.S273G	p.S207G			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1189	-			207					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.619A>G	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	T	33	5.206035	0.95033	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.19;1.05;-1.22;-1.22;-1.22;-1.19;-1.19;-1.2;1.05	6.0	6.0	0.97389	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.90700	0.7082	M	0.93638	3.44	0.80722	D	1	D;D;D;D;D;D	0.67145	0.981;0.962;0.962;0.981;0.996;0.962	P;P;P;P;D;P	0.65684	0.68;0.502;0.502;0.68;0.937;0.502	D	0.92953	0.6382	10	0.87932	D	0	-4.8324	16.5047	0.84268	0.0:0.0:0.0:1.0	.	265;213;196;273;210;207	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	G	207;196;273;207;207;207;196;210;213;265	ENSP00000377935:S207G;ENSP00000431320:S196G;ENSP00000377936:S273G;ENSP00000377933:S207G;ENSP00000349283:S207G;ENSP00000398779:S207G;ENSP00000377932:S196G;ENSP00000336591:S210G;ENSP00000421396:S213G;ENSP00000377931:S265G	ENSP00000336591:S210G	S	-	1	0	AC011357.1	146010309	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.297000	0.77311	0.533000	0.62120	AGT		0.388	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		4	65	0	0	0	1	0	4	65				
OR4C46	119749	broad.mit.edu	37	11	51515774	51515774	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:51515774C>A	ENST00000328188.1	+	1	493	c.493C>A	c.(493-495)Cct>Act	p.P165T		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTTCCAATTACCTTTCTGTGG	0.468																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.(493-495)Cct>Act		olfactory receptor, family 4, subfamily C, member 46							96.0	93.0	94.0					11																	51515774		2200	4276	6476	SO:0001583	missense	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515774C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.493C>A	11.37:g.51515774C>A	ENSP00000329056:p.Pro165Thr						p.P165T	NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	493	+			165						Missense_Mutation	SNP	ENST00000328188.1	37	c.493C>A	CCDS31498.1	.	.	.	.	.	.	.	.	.	.	.	6.341	0.431082	0.12045	.	.	ENSG00000185926	ENST00000328188	T	0.00158	8.65	2.47	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000368	T	0.00271	0.0008	L	0.41906	1.305	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.52034	-0.8629	10	0.87932	D	0	.	6.6655	0.23039	0.2826:0.7173:0.0:0.0	.	165	A6NHA9	O4C46_HUMAN	T	165	ENSP00000329056:P165T	ENSP00000329056:P165T	P	+	1	0	OR4C46	51372350	0.002000	0.14202	0.112000	0.21494	0.183000	0.23260	0.519000	0.22862	1.433000	0.47394	0.121000	0.15741	CCT		0.468	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		52	48	1	0	1.81118e-26	1	2.04803e-26	52	48				
HSPG2	3339	broad.mit.edu	37	1	22154579	22154579	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:22154579C>A	ENST00000374695.3	-	90	12555	c.12476G>T	c.(12475-12477)tGc>tTc	p.C4159F	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4159	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTGCCCTGGCAGGTGCCCCC	0.662																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(12475-12477)tGc>tTc		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)						40.0	43.0	42.0					1																	22154579		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22154579C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12476G>T	1.37:g.22154579C>A	ENSP00000363827:p.Cys4159Phe					HSPG2_ENST00000486901.1_5'UTR	p.C4159F	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	90	12555	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	4159			EGF-like 4.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.12476G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820133	0.71028	.	.	ENSG00000142798	ENST00000374695	D	0.85556	-2.0	4.91	3.99	0.46301	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41823	D	0.000806	D	0.93831	0.8027	H	0.95004	3.61	0.48696	D	0.999697	D;D	0.71674	0.994;0.998	P;D	0.78314	0.795;0.991	D	0.94747	0.7924	10	0.87932	D	0	.	12.4437	0.55639	0.0:0.9168:0.0:0.0832	.	2099;4159	Q59EG0;P98160	.;PGBM_HUMAN	F	4159	ENSP00000363827:C4159F	ENSP00000363827:C4159F	C	-	2	0	HSPG2	22027166	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.901000	0.69861	1.194000	0.43101	0.563000	0.77884	TGC		0.662	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		16	13	1	0	8.60227e-14	1	9.5798e-14	16	13				
SLC16A6	9120	broad.mit.edu	37	17	66267428	66267428	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:66267428C>T	ENST00000327268.4	-	6	1037	c.873G>A	c.(871-873)gaG>gaA	p.E291E	SLC16A6_ENST00000580666.1_Silent_p.E291E|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	291					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TAAAACTTTTCTCTTTCAAAA	0.468																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(871-873)gaG>gaA		solute carrier family 16, member 6	Pyruvic acid(DB00119)						52.0	53.0	53.0					17																	66267428		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267428C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.873G>A	17.37:g.66267428C>T						ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.E291E	p.E291E	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1037	-	all_cancers(12;1.24e-09)		291					Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.873G>A	CCDS11675.1																																																																																				0.468	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		4	63	0	0	0	1	0	4	63				
CDH19	28513	broad.mit.edu	37	18	64235836	64235836	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr18:64235836G>T	ENST00000540086.1	-	3	553	c.307C>A	c.(307-309)Cag>Aag	p.Q103K	CDH19_ENST00000262150.2_Missense_Mutation_p.Q103K	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	211	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCAAGCTTCTGTATGGCATAT	0.428																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(307-309)Cag>Aag		cadherin 19, type 2							133.0	128.0	130.0					18																	64235836		2203	4299	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235836G>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.307C>A	18.37:g.64235836G>T	ENSP00000439593:p.Gln103Lys					CDH19_ENST00000540086.1_Missense_Mutation_p.Q103K	p.Q103K	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			3	599	-		Esophageal squamous(42;0.0132)	103			Cadherin 1.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.307C>A	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278658	0.23307	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.42900	0.96;0.96	5.87	-2.21	0.06973	Cadherin (5);Cadherin-like (1);	0.655520	0.15278	N	0.270855	T	0.15522	0.0374	N	0.04043	-0.29	0.09310	N	0.999999	B;B	0.13594	0.004;0.008	B;B	0.18561	0.006;0.022	T	0.34254	-0.9836	10	0.02654	T	1	.	10.9002	0.47047	0.0:0.1666:0.2858:0.5476	.	103;103	F5H1K0;Q9H159	.;CAD19_HUMAN	K	103;103;48	ENSP00000262150:Q103K;ENSP00000439593:Q103K	ENSP00000262150:Q103K	Q	-	1	0	CDH19	62386816	0.000000	0.05858	0.031000	0.17742	0.909000	0.53808	-0.407000	0.07178	-0.233000	0.09797	-0.189000	0.12847	CAG		0.428	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		22	104	1	0	2.89027e-11	1	3.17067e-11	22	104				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		3	61	0	0	0	1	0	3	61				
IDO2	169355	broad.mit.edu	37	8	39847246	39847246	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:39847246G>C	ENST00000389060.4	+	7	556	c.556G>C	c.(556-558)Gtt>Ctt	p.V186L	IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Missense_Mutation_p.V199L			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	186					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTAGGCTCTTGTTCAGGCCAC	0.522																																						ENST00000502986.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						c.(595-597)Gtt>Ctt		indoleamine 2,3-dioxygenase 2							77.0	79.0	78.0					8																	39847246		2055	4209	6264	SO:0001583	missense	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39847246G>C	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.556G>C	8.37:g.39847246G>C	ENSP00000426447:p.Val186Leu					IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.V186L|RP11-44K6.3_ENST00000517623.1_RNA	p.V199L	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN			8	837	+			186					A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37	c.595G>C		.	.	.	.	.	.	.	.	.	.	G	3.067	-0.191945	0.06299	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.39997	1.05;1.05	5.57	3.78	0.43462	.	1.096900	0.06813	N	0.790699	T	0.27134	0.0665	N	0.13168	0.305	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.27400	-1.0075	9	.	.	.	.	8.3254	0.32153	0.1808:0.0:0.8192:0.0	.	199	F5H5G0	.	L	199;186	ENSP00000443432:V199L;ENSP00000426447:V186L	.	V	+	1	0	IDO2	39966403	0.835000	0.29415	0.027000	0.17364	0.005000	0.04900	1.170000	0.31883	0.708000	0.31955	0.467000	0.42956	GTT		0.522	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		7	2	0	0	0	1	0	7	2				
TPCN2	219931	broad.mit.edu	37	11	68825108	68825108	+	Silent	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:68825108G>A	ENST00000294309.3	+	5	593	c.492G>A	c.(490-492)gtG>gtA	p.V164V	TPCN2_ENST00000542467.1_Silent_p.V164V|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	164					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCTCGTGGTGCTGGTGGTGT	0.597																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(490-492)gtG>gtA		two pore segment channel 2							234.0	167.0	189.0					11																	68825108		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68825108G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.492G>A	11.37:g.68825108G>A						TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.V164V	p.V164V	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		5	593	+			164					Q9NT82	Silent	SNP	ENST00000294309.3	37	c.492G>A	CCDS8189.1																																																																																				0.597	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		8	75	0	0	0	1	0	8	75				
DDX41	51428	broad.mit.edu	37	5	176940755	176940755	+	Silent	SNP	C	C	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:176940755C>T	ENST00000507955.1	-	10	1552	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	DDX41_ENST00000506965.1_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	343	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CAGCCTCGTCCAGGGCCAGGT	0.627																																						ENST00000507955.1																			0											c.(1027-1029)ctG>ctA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							100.0	80.0	87.0					5																	176940755		2203	4300	6503	SO:0001819	synonymous_variant	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176940755C>T	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1029G>A	5.37:g.176940755C>T							p.L343L	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		10	1552	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	343			Helicase ATP-binding.		B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Silent	SNP	ENST00000507955.1	37	c.1029G>A	CCDS4427.1																																																																																				0.627	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		4	67	0	0	0	1	0	4	67				
TRIM6	117854	broad.mit.edu	37	11	5632107	5632107	+	Silent	SNP	C	C	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:5632107C>G	ENST00000278302.5	+	8	1142	c.1002C>G	c.(1000-1002)tcC>tcG	p.S334S	TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000380107.1_Silent_p.S308S|TRIM6_ENST00000507320.1_Silent_p.S159S|TRIM6-TRIM34_ENST00000354852.5_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380097.3_Silent_p.S362S|TRIM6_ENST00000445329.1_Silent_p.S159S|TRIM6_ENST00000515022.1_Silent_p.S159S|TRIM6_ENST00000506134.1_Silent_p.S159S|HBG2_ENST00000380259.2_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGACCTTCCTGTCTGGAAA	0.483																																						ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(1084-1086)tcC>tcG		tripartite motif containing 6							115.0	107.0	110.0					11																	5632107		2201	4297	6498	SO:0001819	synonymous_variant	117854							g.chr11:5632107C>G	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1002C>G	11.37:g.5632107C>G						TRIM6_ENST00000507320.1_Silent_p.S159S|TRIM6_ENST00000515022.1_Silent_p.S159S|TRIM6_ENST00000380107.1_Silent_p.S308S|TRIM6_ENST00000278302.5_Silent_p.S334S|TRIM6_ENST00000481603.1_3'UTR|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000506134.1_Silent_p.S159S|TRIM6_ENST00000445329.1_Silent_p.S159S	p.S362S	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	8	1328	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	ENST00000278302.5	37	c.1086C>G	CCDS31390.1																																																																																				0.483	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		8	30	0	0	0	1	0	8	30				
PTPN11	5781	broad.mit.edu	37	12	112926291	112926291	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:112926291T>G	ENST00000351677.2	+	12	1622	c.1424T>G	c.(1423-1425)cTt>cGt	p.L475R		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	479	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATTGATATTCTTATTGACATC	0.458			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													ENST00000351677.2				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1423-1425)cTt>cGt		protein tyrosine phosphatase, non-receptor type 11							123.0	116.0	119.0					12																	112926291		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926291T>G	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1424T>G	12.37:g.112926291T>G	ENSP00000340944:p.Leu475Arg						p.L475R	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN			12	1622	+			479			Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1424T>G	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.759044	0.89843	.	.	ENSG00000179295	ENST00000351677	D	0.99388	-5.81	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	D	0.99603	0.9856	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97715	1.0193	10	0.87932	D	0	.	15.091	0.72195	0.0:0.0:0.0:1.0	.	475	Q06124-2	.	R	475	ENSP00000340944:L475R	ENSP00000340944:L475R	L	+	2	0	PTPN11	111410674	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.561000	0.82288	2.029000	0.59856	0.528000	0.53228	CTT		0.458	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			8	89	0	0	0	1	0	8	89				
MECOM	2122	broad.mit.edu	37	3	168845848	168845848	+	Splice_Site	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:168845848T>C	ENST00000464456.1	-	4	1250	c.50A>G	c.(49-51)gAa>gGa	p.E17G	MECOM_ENST00000468789.1_Splice_Site_p.E17G|MECOM_ENST00000433243.2_Splice_Site_p.E17G|MECOM_ENST00000494292.1_Splice_Site_p.E205G|MECOM_ENST00000392736.3_Splice_Site_p.E17G|MECOM_ENST00000472280.1_Splice_Site_p.E17G|MECOM_ENST00000460814.1_Splice_Site_p.E17G|MECOM_ENST00000264674.3_Splice_Site_p.E81G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGCCGTTCTTCTGTGAAAAC	0.418																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.e4-1		MDS1 and EVI1 complex locus							91.0	89.0	89.0					3																	168845848		2203	4300	6503	SO:0001630	splice_region_variant	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168845848T>C	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.50-1A>G	3.37:g.168845848T>C						MECOM_ENST00000472280.1_Splice_Site_p.E17_splice|MECOM_ENST00000468789.1_Splice_Site_p.E17_splice|MECOM_ENST00000264674.3_Splice_Site_p.E81_splice|MECOM_ENST00000392736.3_Splice_Site_p.E17_splice|MECOM_ENST00000433243.2_Splice_Site_p.E17_splice|MECOM_ENST00000460814.1_Splice_Site_p.E17_splice|MECOM_ENST00000494292.1_Splice_Site_p.E205_splice	p.E17_splice	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			4	1250	-			0					Q13466|Q6FH90	Splice_Site	SNP	ENST00000464456.1	37	c.49_splice	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.716577	0.68844	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000484519;ENST00000460890;ENST00000487503;ENST00000494597;ENST00000475754;ENST00000481315;ENST00000466623	T;T;T;T;T;T;T;T;T;T;T;T;T	0.45276	2.92;3.3;3.27;3.4;2.92;3.3;3.27;3.4;4.86;5.78;5.78;5.78;0.9	5.44	5.44	0.79542	.	0.205074	0.33457	N	0.004883	T	0.36552	0.0971	N	0.01576	-0.805	0.80722	D	1	D;D;D;P;D	0.76494	0.999;0.997;0.999;0.604;0.995	D;D;D;B;P	0.69479	0.964;0.913;0.922;0.11;0.82	T	0.58132	-0.7690	10	0.42905	T	0.14	.	15.4898	0.75597	0.0:0.0:0.0:1.0	.	205;17;205;81;17	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	G	81;17;17;17;205;17;17;17;17;17;17;17;17;17;17	ENSP00000264674:E81G;ENSP00000376493:E17G;ENSP00000419770:E17G;ENSP00000420048:E17G;ENSP00000417899:E205G;ENSP00000419995:E17G;ENSP00000420466:E17G;ENSP00000394302:E17G;ENSP00000417299:E17G;ENSP00000417922:E17G;ENSP00000419757:E17G;ENSP00000420072:E17G;ENSP00000418828:E17G	ENSP00000264674:E81G	E	-	2	0	MECOM	170328542	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.698000	0.84413	2.062000	0.61559	0.459000	0.35465	GAA		0.418	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	Missense_Mutation	6	102	0	0	0	1	0	6	102				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.C84S(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(250-252)tGc>tCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	446	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		7	367	0	0	0	1	0	7	367				
MDC1	9656	broad.mit.edu	37	6	30672243	30672243	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:30672243G>C	ENST00000376406.3	-	10	5364	c.4717C>G	c.(4717-4719)Cct>Gct	p.P1573A	MDC1_ENST00000376405.2_Missense_Mutation_p.P1309A|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1573	Interaction with the PRKDC complex.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						GGGGCTATAGGGACAATTGAT	0.567								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(4717-4719)Cct>Gct	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							128.0	143.0	138.0					6																	30672243		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672243G>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4717C>G	6.37:g.30672243G>C	ENSP00000365588:p.Pro1573Ala					MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1309A	p.P1573A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			10	5364	-			1573			Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4717C>G	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283964	0.23392	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.20738	2.05;2.05	3.84	2.02	0.26589	.	.	.	.	.	T	0.15046	0.0363	M	0.71581	2.175	0.09310	N	1	P;B	0.49358	0.923;0.33	P;B	0.51657	0.676;0.135	T	0.09357	-1.0678	9	0.27082	T	0.32	-0.1235	6.6365	0.22885	0.211:0.0:0.789:0.0	.	1309;1573	Q14676-2;Q14676	.;MDC1_HUMAN	A	1573;1309;1286;1139	ENSP00000365588:P1573A;ENSP00000365587:P1309A	ENSP00000365587:P1309A	P	-	1	0	MDC1	30780222	0.000000	0.05858	0.001000	0.08648	0.122000	0.20287	-0.249000	0.08842	0.588000	0.29660	0.449000	0.29647	CCT		0.567	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		15	249	0	0	0	1	0	15	249				
DYRK4	8798	broad.mit.edu	37	12	4722916	4722916	+	Silent	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:4722916A>G	ENST00000540757.2	+	13	1720	c.1560A>G	c.(1558-1560)gtA>gtG	p.V520V	DYRK4_ENST00000543431.1_Silent_p.V519V|DYRK4_ENST00000010132.5_Silent_p.V520V|DYRK4_ENST00000545342.1_Silent_p.V157V|RP11-500M8.7_ENST00000536588.1_Intron	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	520						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CCCCTATTGTATGACCTTTGC	0.443																																						ENST00000540757.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1558-1560)gtA>gtG		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4							64.0	66.0	65.0					12																	4722916		2201	4296	6497	SO:0001819	synonymous_variant	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4722916A>G	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1560A>G	12.37:g.4722916A>G						DYRK4_ENST00000543431.1_Silent_p.V519V|DYRK4_ENST00000545342.1_Silent_p.V157V|DYRK4_ENST00000010132.5_Silent_p.V520V	p.V520V	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		13	1720	+			520					A8K8F7|Q8NEF2|Q92631	Silent	SNP	ENST00000540757.2	37	c.1560A>G	CCDS8530.1																																																																																				0.443	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2			43	41	0	0	0	1	0	43	41				
PRR27	401137	broad.mit.edu	37	4	71020123	71020123	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:71020123T>C	ENST00000344526.5	+	1	220	c.31T>C	c.(31-33)Tgt>Cgt	p.C11R	C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.C11R	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		11						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGCATTGTATGTGTTGCTTT	0.294																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(31-33)Tgt>Cgt		chromosome 4 open reading frame 40							102.0	100.0	101.0					4																	71020123		2203	4300	6503	SO:0001583	missense	401137					extracellular region		g.chr4:71020123T>C																												ENST00000344526.5:c.31T>C	4.37:g.71020123T>C	ENSP00000343172:p.Cys11Arg					C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Missense_Mutation_p.C11R	p.C11R	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			1	220	+			11					A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	37	c.31T>C	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	T	9.719	1.159136	0.21454	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.35236	1.32;1.32	3.89	1.24	0.21308	.	.	.	.	.	T	0.24084	0.0583	N	0.24115	0.695	0.09310	N	1	P	0.43231	0.801	P	0.46208	0.507	T	0.11421	-1.0588	9	0.08381	T	0.77	-2.9408	6.4557	0.21928	0.4413:0.0:0.0:0.5586	.	11	Q6MZM9	CD040_HUMAN	R	11	ENSP00000426249:C11R;ENSP00000343172:C11R	ENSP00000343172:C11R	C	+	1	0	C4orf40	71054712	0.013000	0.17824	0.001000	0.08648	0.434000	0.31775	1.094000	0.30951	0.250000	0.21479	-0.646000	0.03943	TGT		0.294	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			30	41	0	0	0	1	0	30	41				
WDFY3	23001	broad.mit.edu	37	4	85645702	85645702	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:85645702A>G	ENST00000295888.4	-	46	7725	c.7318T>C	c.(7318-7320)Tac>Cac	p.Y2440H	WDFY3_ENST00000322366.6_Missense_Mutation_p.Y2423H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2440	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGCATGTAGTACTCTTTACTG	0.448																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7267-7269)Tac>Cac		WD repeat and FYVE domain containing 3							133.0	129.0	130.0					4																	85645702		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85645702A>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7318T>C	4.37:g.85645702A>G	ENSP00000295888:p.Tyr2440His					WDFY3_ENST00000295888.4_Missense_Mutation_p.Y2440H	p.Y2423H			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	45	7674	-		Hepatocellular(203;0.114)	2440					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7267T>C	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.026233	0.93518	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.68765	-0.16;-0.13;-0.35	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	L	0.52126	1.63	0.80722	D	1	D	0.54772	0.968	P	0.46885	0.53	T	0.67337	-0.5696	10	0.38643	T	0.18	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	2440	Q8IZQ1	WDFY3_HUMAN	H	2423;2440;43	ENSP00000318466:Y2423H;ENSP00000295888:Y2440H;ENSP00000424987:Y43H	ENSP00000295888:Y2440H	Y	-	1	0	WDFY3	85864726	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.233000	0.95337	2.326000	0.78906	0.533000	0.62120	TAC		0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		4	104	0	0	0	1	0	4	104				
FAM124A	220108	broad.mit.edu	37	13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr13:51825705G>A	ENST00000322475.8	+	3	337	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	FAM124A_ENST00000280057.6_Missense_Mutation_p.V104I	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682																																						ENST00000322475.8																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26						c.(202-204)Gtc>Atc		family with sequence similarity 124A							26.0	23.0	24.0					13																	51825705		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51825705G>A	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.202G>A	13.37:g.51825705G>A	ENSP00000324625:p.Val68Ile					FAM124A_ENST00000280057.6_Missense_Mutation_p.V104I	p.V68I	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	3	337	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	68					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.202G>A	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913792	0.72983	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.41758	0.99;0.99	5.79	4.89	0.63831	.	0.149802	0.45126	D	0.000390	T	0.45115	0.1326	L	0.47716	1.5	0.37949	D	0.932572	D;D;P	0.60575	0.988;0.973;0.621	P;B;B	0.50934	0.654;0.437;0.12	T	0.42666	-0.9438	10	0.37606	T	0.19	-21.3215	13.2784	0.60200	0.0:0.3021:0.6979:0.0	.	68;104;68	Q86V42;Q86V42-2;Q86V42-3	F124A_HUMAN;.;.	I	68;104	ENSP00000324625:V68I;ENSP00000280057:V104I	ENSP00000280057:V104I	V	+	1	0	FAM124A	50723706	1.000000	0.71417	0.970000	0.41538	0.984000	0.73092	3.626000	0.54245	2.735000	0.93741	0.655000	0.94253	GTC		0.682	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		19	17	0	0	0	1	0	19	17				
OR5L1	219437	broad.mit.edu	37	11	55579224	55579224	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:55579224C>A	ENST00000333973.2	+	1	371	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCATCTCCTTCCTAGGGTGCA	0.458																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(280-282)ttC>ttA		olfactory receptor, family 5, subfamily L, member 1							227.0	206.0	213.0					11																	55579224		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579224C>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.282C>A	11.37:g.55579224C>A	ENSP00000335529:p.Phe94Leu						p.F94L	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	371	+		all_epithelial(135;0.208)	94					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.282C>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	12.61	1.990877	0.35131	.	.	ENSG00000186117	ENST00000333973	T	0.00327	8.09	4.18	-1.32	0.09201	GPCR, rhodopsin-like superfamily (1);	0.123237	0.37304	N	0.002154	T	0.00241	0.0007	L	0.54908	1.71	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.44787	-0.9305	10	0.72032	D	0.01	-41.1964	9.044	0.36336	0.0:0.3459:0.0:0.6541	.	94	Q8NGL2	OR5L1_HUMAN	L	94	ENSP00000335529:F94L	ENSP00000335529:F94L	F	+	3	2	OR5L1	55335800	0.000000	0.05858	0.001000	0.08648	0.150000	0.21749	-1.725000	0.01863	-0.346000	0.08312	0.435000	0.28638	TTC		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		13	231	1	0	4.3838e-07	1	4.73837e-07	13	231				
PENK	5179	broad.mit.edu	37	8	57353928	57353928	+	Missense_Mutation	SNP	C	C	T	rs148671012		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr8:57353928C>T	ENST00000314922.3	-	2	783	c.707G>A	c.(706-708)cGc>cAc	p.R236H	PENK_ENST00000523274.1_5'Flank|PENK_ENST00000451791.2_Missense_Mutation_p.R236H	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	236					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CTCGGCAAAGCGCTTCAGGAA	0.483																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(706-708)cGc>cAc		proenkephalin		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	84.0	89.0	87.0		707,707	5.0	1.0	8	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PENK	NM_001135690.1,NM_006211.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	236/268,236/268	57353928	1,13005	2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353928C>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.707G>A	8.37:g.57353928C>T	ENSP00000324248:p.Arg236His					PENK_ENST00000451791.2_Missense_Mutation_p.R236H	p.R236H	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	783	-		all_lung(136;0.229)	236					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.707G>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.882933	0.72410	0.0	1.16E-4	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.19394	2.15;2.15	5.91	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.27063	0.0663	M	0.78344	2.41	0.80722	D	1	P	0.49559	0.925	B	0.37508	0.252	T	0.28650	-1.0037	10	0.87932	D	0	-28.6506	15.4512	0.75274	0.1396:0.8604:0.0:0.0	.	236	P01210	PENK_HUMAN	H	236	ENSP00000324248:R236H;ENSP00000400894:R236H	ENSP00000324248:R236H	R	-	2	0	PENK	57516482	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.061000	0.76699	1.456000	0.47831	0.655000	0.94253	CGC		0.483	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			65	21	0	0	0	1	0	65	21				
CST9	128822	broad.mit.edu	37	20	23584363	23584363	+	Silent	SNP	A	A	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr20:23584363A>T	ENST00000376971.3	-	2	275	c.264T>A	c.(262-264)ggT>ggA	p.G88G		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	88						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					ACACCATCTTACCTCGCCACT	0.468																																						ENST00000376971.3																			0				central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(262-264)ggT>ggA		cystatin 9 (testatin)							153.0	139.0	144.0					20																	23584363		2203	4300	6503	SO:0001819	synonymous_variant	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23584363A>T	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.264T>A	20.37:g.23584363A>T							p.G88G	NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN			2	275	-	Colorectal(13;0.0993)		88					B2RP76|Q8TD53	Silent	SNP	ENST00000376971.3	37	c.264T>A	CCDS33450.1																																																																																				0.468	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1		5	122	0	0	0	1	0	5	122				
SLC14A1	6563	broad.mit.edu	37	18	43311050	43311050	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr18:43311050C>A	ENST00000321925.4	+	4	454	c.222C>A	c.(220-222)aaC>aaA	p.N74K	SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000589700.1_Missense_Mutation_p.N74K|SLC14A1_ENST00000402943.2_5'UTR|RP11-116O18.3_ENST00000589510.1_RNA|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.N130K|SLC14A1_ENST00000586142.1_Missense_Mutation_p.N74K|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000436407.3_Missense_Mutation_p.N130K	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	74			N -> K (in Jk(null)). {ECO:0000269|PubMed:18980618}.		transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TCGTCAACAACCCCGTCAGTG	0.547																																						ENST00000321925.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21	GRCh37	CM090445	SLC14A1	M		c.(220-222)aaC>aaA		solute carrier family 14 (urea transporter), member 1							110.0	99.0	103.0					18																	43311050		2203	4300	6503	SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43311050C>A	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.222C>A	18.37:g.43311050C>A	ENSP00000318546:p.Asn74Lys					SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.N130K|SLC14A1_ENST00000586142.1_Missense_Mutation_p.N74K|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000436407.3_Missense_Mutation_p.N130K|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000589700.1_Missense_Mutation_p.N74K|SLC14A1_ENST00000402943.2_5'UTR	p.N74K	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN			4	454	+			74		N -> K (in Jk(null)).			A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	ENST00000321925.4	37	c.222C>A	CCDS11925.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647858	0.67358	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000436407	T;T;T	0.60171	0.21;0.21;0.21	6.06	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.80243	0.4587	M	0.92555	3.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.84341	0.0527	10	0.87932	D	0	-25.2495	11.4993	0.50428	0.0:0.8134:0.0:0.1866	.	130;74	Q13336-2;Q13336	.;UT1_HUMAN	K	74;130;130	ENSP00000318546:N74K;ENSP00000412309:N130K;ENSP00000390637:N130K	ENSP00000318546:N74K	N	+	3	2	SLC14A1	41565048	0.997000	0.39634	1.000000	0.80357	0.467000	0.32768	0.510000	0.22723	1.565000	0.49641	0.655000	0.94253	AAC		0.547	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		7	86	1	0	0.000157383	1	0.000166441	7	86				
HRNR	388697	broad.mit.edu	37	1	152191275	152191275	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:152191275delA	ENST00000368801.2	-	3	2905	c.2830delT	c.(2830-2832)tacfs	p.Y944fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	944					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGAGTGTAACCAGAGGAC	0.567																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2830-2832)acfs		hornerin							257.0	256.0	256.0					1																	152191275		2203	4300	6503	SO:0001589	frameshift_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191275delA	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2830delT	1.37:g.152191275delA	ENSP00000357791:p.Tyr944fs					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Y944fs	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2905	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		944					Q5DT20|Q5U1F4	Frame_Shift_Del	DEL	ENST00000368801.2	37	c.2830delT	CCDS30859.1																																																																																				0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		22	634						22	634	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276084	152276091	+	Frame_Shift_Del	DEL	CACGAATG	CACGAATG	-	rs201304512		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:152276084_152276091delCACGAATG	ENST00000368799.1	-	3	11306_11313	c.11271_11278delCATTCGTG	c.(11269-11280)accattcgtggafs	p.IRG3758fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3758	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGGGTGTCCACGAATGGTGTCCTGAC	0.606									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11269-11280)acgafs		filaggrin																																				SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152276084_152276091delCACGAATG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11271_11278delCATTCGTG	1.37:g.152276084_152276091delCACGAATG	ENSP00000357789:p.Ile3758fs					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.TIRG3757fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11306_11313	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3757			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.11271_11278delCATTCGTG	CCDS30860.1																																																																																				0.606	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		22	802						22	802	---	---	---	---
EMC3	55831	broad.mit.edu	37	3	10049093	10049094	+	lincRNA	INS	-	-	G	rs371761226|rs377547959		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:10049093_10049094insG	ENST00000383808.2	-	0	904_905				AC034193.5_ENST00000326237.3_RNA																							GGGTCAGTGGCGGGGTGTGGTC	0.589																																						ENST00000383808.2																			0																																																			0							g.chr3:10049093_10049094insG																													3.37:g.10049097_10049097dupG														0	904_905	-									RNA	INS	ENST00000383808.2	37																																																																																						0.589	AC022007.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339469.1			7	136						7	136	---	---	---	---
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(643-645)aggfs	p.R215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.R76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653																																						ENST00000324382.2																			0				endometrium(1)|lung(4)|skin(1)	6						c.(640-645)gcggaafs		H1 histone family, member O, oocyte-specific																																				SO:0001589	frameshift_variant	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129268107_129268108insA	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.643dupA	3.37:g.129268108_129268108dupA	ENSP00000319799:p.Arg215fs					H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs	p.E215fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN			3	647_648	+			215					Q86WT7	Frame_Shift_Ins	INS	ENST00000324382.2	37	c.642_643insA	CCDS3064.1																																																																																				0.653	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		2	4						2	4	---	---	---	---
CCDC96	257236	broad.mit.edu	37	4	7044507	7044509	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:7044507_7044509delCTC	ENST00000310085.4	-	1	219_221	c.157_159delGAG	c.(157-159)gagdel	p.E53del	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank|TADA2B_ENST00000310074.7_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	53	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAGCCGCTTGCTCCTCCTCCTCC	0.729																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(157-159)del		coiled-coil domain containing 96				5,52,3685		0,0,5,5,42,1819						1.2	0.0			5	3,138,7455		0,0,3,11,116,3668	no	codingComplex	CCDC96	NM_153376.2		0,0,8,16,158,5487	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8562,1.5232,1.7463				8,190,11140				SO:0001651	inframe_deletion	257236							g.chr4:7044507_7044509delCTC	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.157_159delGAG	4.37:g.7044516_7044518delCTC	ENSP00000309285:p.Glu53del					RP11-367J11.2_ENST00000500031.1_RNA	p.E53del	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	219_221	-			53			Glu-rich.		Q8N2I7	In_Frame_Del	DEL	ENST00000310085.4	37	c.157_159delGAG	CCDS3395.1																																																																																				0.729	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		2	4						2	4	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080|rs190692498		TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AAAGCAATGTGGATAAAGGGAC	0.431																																						ENST00000411500.1																			0																																																			0							g.chr6:32523362_32523363insGATA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523363_32523366dupGATA								NR_001298.1						0	458	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	4						3	4	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr7:100369720_100369721insT	ENST00000348028.3	+	0	5590				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369720_100369721insT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369731_100369731dupT						ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	4						3	4	---	---	---	---
NR4A1	3164	broad.mit.edu	37	12	52451162	52451164	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:52451162_52451164delTCT	ENST00000243050.1	+	7	1702_1704	c.1388_1390delTCT	c.(1387-1392)atcttc>atc	p.F464del	RP11-1100L3.8_ENST00000564363.1_lincRNA|NR4A1_ENST00000360284.3_In_Frame_Del_p.F477del|NR4A1_ENST00000394825.1_In_Frame_Del_p.F464del|NR4A1_ENST00000545748.1_In_Frame_Del_p.F518del|NR4A1_ENST00000550082.1_In_Frame_Del_p.F477del|NR4A1_ENST00000394824.2_In_Frame_Del_p.F464del	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	464					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCAAGCTCATCTTCTGCTCAGG	0.611																																						ENST00000545748.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16						c.(1549-1554)atc>a		nuclear receptor subfamily 4, group A, member 1																																				SO:0001651	inframe_deletion	0				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding	g.chr12:52451162_52451164delTCT	L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.1388_1390delTCT	12.37:g.52451165_52451167delTCT	ENSP00000243050:p.Phe464del					NR4A1_ENST00000550082.1_In_Frame_Del_p.IF476del|NR4A1_ENST00000394825.1_In_Frame_Del_p.IF463del|NR4A1_ENST00000394824.2_In_Frame_Del_p.IF463del|NR4A1_ENST00000243050.1_In_Frame_Del_p.IF463del|NR4A1_ENST00000360284.3_In_Frame_Del_p.IF476del	p.IF517del			P22736	NR4A1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0967)	7	2545_2547	+			463					B4DML7|Q15627|Q53Y00|Q6IBU8	In_Frame_Del	DEL	ENST00000243050.1	37	c.1550_1552delTCT	CCDS8818.1																																																																																				0.611	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317922.2			32	29						32	29	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	DEL	C	C	-			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7579311delC	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	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"""		38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(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	CS951538	TP53	S		c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7579311delC	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.375+1G>-	17.37:g.7579311delC		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site		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)	4	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	DEL	ENST00000269305.4	37		CCDS11118.1																																																																																				0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	26	52						26	52	---	---	---	---
LRRC37BP1	147172	broad.mit.edu	37	17	28960992	28960993	+	RNA	INS	-	-	TTTTTC	rs57752761|rs543292747	byFrequency	TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:28960992_28960993insTTTTTC	ENST00000417404.1	+	0	1269									leucine rich repeat containing 37B pseudogene 1																		ttcttttttctttttttttttt	0.302																																						ENST00000417404.1																			0																																																			0							g.chr17:28960992_28960993insTTTTTC	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960992_28960993insTTTTTC						LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA								0	1269	+									RNA	INS	ENST00000417404.1	37																																																																																						0.302	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000256203.1	NR_015341		12	21						12	21	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76889091	76889091	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7304-02A-12D-A36O-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02318fd9-cf91-48e2-9402-e2c00bfa919d	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:76889091delT	ENST00000373344.5	-	18	5133	c.4919delA	c.(4918-4920)aagfs	p.K1640fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1602fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1640	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTCTTGCCACTTCTCAAATTC	0.318			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(4918-4920)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						50.0	48.0	48.0					X																	76889091		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76889091delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4919delA	X.37:g.76889091delT	ENSP00000362441:p.Lys1640fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1602fs|ATRX_ENST00000480283.1_5'UTR	p.K1640fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			18	5133	-			1640			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.4919delA	CCDS14434.1																																																																																				0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		53	5						53	5	---	---	---	---
