#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
HNRNPA0	10949	broad.mit.edu	37	5	137089260	137089260	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:137089260G>A	ENST00000314940.4	-	1	779	c.496C>T	c.(496-498)Cat>Tat	p.H166Y		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	166	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCACGCGATGGCCCTGAATC	0.642																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(496-498)Cat>Tat		heterogeneous nuclear ribonucleoprotein A0							36.0	33.0	34.0					5																	137089260		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089260G>A	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.496C>T	5.37:g.137089260G>A	ENSP00000316042:p.His166Tyr						p.H166Y	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	779	-			166			RRM 2.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.496C>T	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082547	0.76528	.	.	ENSG00000177733	ENST00000314940	T	0.74421	-0.84	5.37	5.37	0.77165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.68696	0.3029	L	0.46885	1.475	0.80722	D	1	B	0.34103	0.437	B	0.27796	0.083	T	0.71771	-0.4492	10	0.66056	D	0.02	.	18.0846	0.89453	0.0:0.0:1.0:0.0	.	166	Q13151	ROA0_HUMAN	Y	166	ENSP00000316042:H166Y	ENSP00000316042:H166Y	H	-	1	0	HNRNPA0	137117159	1.000000	0.71417	0.856000	0.33681	0.989000	0.77384	4.394000	0.59671	2.522000	0.85027	0.484000	0.47621	CAT		0.642	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		8	10	0	0	0	1	0	8	10				
PRDM10	56980	broad.mit.edu	37	11	129814836	129814836	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr11:129814836G>A	ENST00000360871.3	-	6	823	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	PRDM10_ENST00000526082.1_Missense_Mutation_p.R112W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R112W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R172W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R112W|PRDM10_ENST00000358825.5_Missense_Mutation_p.R198W	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	198					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)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGCACCGGCCGGTTGGGGATC	0.617																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(592-594)Cgg>Tgg		PR domain containing 10							37.0	39.0	38.0					11																	129814836		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129814836G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.592C>T	11.37:g.129814836G>A	ENSP00000354118:p.Arg198Trp					PRDM10_ENST00000360871.3_Missense_Mutation_p.R198W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R172W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R112W|PRDM10_ENST00000526082.1_Missense_Mutation_p.R112W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R112W	p.R198W	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	6	823	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	198					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.592C>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585181	0.86748	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082	T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	5.29	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.76681	0.4021	M	0.68317	2.08	0.58432	D	0.999991	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.999;0.997;0.995;0.998;0.997;0.997	T	0.79633	-0.1722	10	0.87932	D	0	-35.8063	14.0788	0.64907	0.0:0.0:0.7262:0.2738	.	112;198;198;198;112;112;112	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	W	198;112;198;112;172;112	ENSP00000351686:R198W;ENSP00000302669:R112W;ENSP00000354118:R198W;ENSP00000398431:R112W;ENSP00000431262:R172W;ENSP00000432237:R112W	ENSP00000302669:R112W	R	-	1	2	PRDM10	129320046	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.022000	0.49659	1.338000	0.45544	0.650000	0.86243	CGG		0.617	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		4	56	0	0	0	1	0	4	56				
KLHL14	57565	broad.mit.edu	37	18	30275430	30275430	+	Silent	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr18:30275430C>T	ENST00000359358.4	-	4	1593	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	385						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGTTACCATTCGGATTCCACT	0.418																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(1153-1155)ccG>ccA		kelch-like family member 14							119.0	90.0	100.0					18																	30275430		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30275430C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1155G>A	18.37:g.30275430C>T							p.P385P	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			4	1593	-			385					A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.1155G>A	CCDS32813.1																																																																																				0.418	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			3	28	0	0	0	1	0	3	28				
KRTAP4-5	85289	broad.mit.edu	37	17	39305839	39305839	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr17:39305839A>T	ENST00000343246.4	-	1	215	c.181T>A	c.(181-183)Tgc>Agc	p.C61S		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	61	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgcagcagctaggg	0.667																																						ENST00000343246.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6						c.(181-183)Tgc>Agc		keratin associated protein 4-5							19.0	23.0	21.0					17																	39305839		2168	4261	6429	SO:0001583	missense	85289					keratin filament		g.chr17:39305839A>T	AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.181T>A	17.37:g.39305839A>T	ENSP00000340546:p.Cys61Ser						p.C61S	NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	215	-		Breast(137;0.000496)	61			27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].			Missense_Mutation	SNP	ENST00000343246.4	37	c.181T>A	CCDS32650.1	.	.	.	.	.	.	.	.	.	.	.	9.193	1.026467	0.19512	.	.	ENSG00000198271	ENST00000343246	T	0.00637	6.05	4.04	4.04	0.47022	.	0.000000	0.40302	U	0.001130	T	0.01124	0.0037	M	0.77616	2.38	0.25414	N	0.98834	B	0.25351	0.124	B	0.28553	0.091	T	0.35325	-0.9793	10	0.48119	T	0.1	.	6.1992	0.20567	0.8852:0.0:0.1148:0.0	.	61	Q9BYR2	KRA45_HUMAN	S	61	ENSP00000340546:C61S	ENSP00000340546:C61S	C	-	1	0	KRTAP4-5	36559365	1.000000	0.71417	0.957000	0.39632	0.026000	0.11368	4.257000	0.58816	1.797000	0.52628	0.533000	0.62120	TGC		0.667	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1			3	29	0	0	0	1	0	3	29				
AACS	65985	broad.mit.edu	37	12	125603203	125603203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr12:125603203G>A	ENST00000316519.6	+	10	1219	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	AACS_ENST00000261686.6_Nonsense_Mutation_p.W338*|AACS_ENST00000545511.1_5'Flank|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	338					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGGATGATGTGGAACTGGATG	0.652																																						ENST00000316519.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(1012-1014)tGg>tAg		acetoacetyl-CoA synthetase							75.0	68.0	70.0					12																	125603203		2203	4300	6503	SO:0001587	stop_gained	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125603203G>A	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1013G>A	12.37:g.125603203G>A	ENSP00000324842:p.Trp338*					AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Nonsense_Mutation_p.W338*	p.W338*	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	10	1219	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		338					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Nonsense_Mutation	SNP	ENST00000316519.6	37	c.1013G>A	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	G	40	7.945510	0.98574	.	.	ENSG00000081760	ENST00000316519;ENST00000261686;ENST00000535001;ENST00000441247;ENST00000538851	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7744	0.88503	0.0:0.0:1.0:0.0	.	.	.	.	X	338;338;194;157;3	.	ENSP00000261686:W338X	W	+	2	0	AACS	124169156	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	9.063000	0.93927	2.181000	0.69327	0.461000	0.40582	TGG		0.652	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		9	12	0	0	0	1	0	9	12				
SVIL	6840	broad.mit.edu	37	10	29779937	29779937	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr10:29779937G>A	ENST00000355867.4	-	22	4783	c.4031C>T	c.(4030-4032)tCc>tTc	p.S1344F	SVIL_ENST00000375400.3_Missense_Mutation_p.S918F|SVIL_ENST00000375398.2_Missense_Mutation_p.S1344F|SVIL_ENST00000535393.1_Missense_Mutation_p.S258F|SVIL_ENST00000538146.1_Missense_Mutation_p.S136F	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1344					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTCGGCCACGGAAGACGTCAA	0.587																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4030-4032)tCc>tTc		supervillin							27.0	27.0	27.0					10																	29779937		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29779937G>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4031C>T	10.37:g.29779937G>A	ENSP00000348128:p.Ser1344Phe					SVIL_ENST00000535393.1_Missense_Mutation_p.S258F|SVIL_ENST00000538146.1_Missense_Mutation_p.S136F|SVIL_ENST00000375400.3_Missense_Mutation_p.S918F|SVIL_ENST00000355867.4_Missense_Mutation_p.S1344F	p.S1344F			O95425	SVIL_HUMAN			24	4480	-		Breast(68;0.103)	1344					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4031C>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	G	10.81	1.455670	0.26161	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.27256	2.62;2.65;2.65;2.48;1.68	4.08	3.15	0.36227	.	0.262756	0.37577	N	0.002027	T	0.25938	0.0632	M	0.64997	1.995	0.19300	N	0.999979	B;B;P;P	0.47034	0.203;0.323;0.889;0.715	B;B;B;B	0.38985	0.182;0.258;0.275;0.287	T	0.18053	-1.0349	10	0.87932	D	0	-6.575	12.2168	0.54410	0.0851:0.0:0.9149:0.0	.	258;136;918;1344	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	F	918;1344;1344;258;298;136	ENSP00000364549:S918F;ENSP00000364547:S1344F;ENSP00000348128:S1344F;ENSP00000445472:S258F;ENSP00000440343:S136F	ENSP00000348128:S1344F	S	-	2	0	SVIL	29819943	0.998000	0.40836	0.012000	0.15200	0.160000	0.22226	3.970000	0.56824	0.897000	0.36392	0.485000	0.47835	TCC		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			4	26	0	0	0	1	0	4	26				
CELF1	10658	broad.mit.edu	37	11	47498502	47498502	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr11:47498502G>A	ENST00000358597.3	-	9	898	c.899C>T	c.(898-900)tCa>tTa	p.S300L	CELF1_ENST00000395290.2_Missense_Mutation_p.S299L|CELF1_ENST00000395292.2_Missense_Mutation_p.S297L|CELF1_ENST00000532048.1_Missense_Mutation_p.S326L|CELF1_ENST00000531165.1_Missense_Mutation_p.S328L|CELF1_ENST00000539455.1_5'Flank|CELF1_ENST00000310513.5_Missense_Mutation_p.S296L|CELF1_ENST00000361904.3_Missense_Mutation_p.S297L			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	300	Ser-rich.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGAGCTAGGTGAGGACCCTGC	0.463																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(895-897)tCa>tTa		CUGBP, Elav-like family member 1							92.0	89.0	90.0					11																	47498502		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47498502G>A	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.899C>T	11.37:g.47498502G>A	ENSP00000351409:p.Ser300Leu					CELF1_ENST00000532048.1_Missense_Mutation_p.S326L|CELF1_ENST00000395292.2_Missense_Mutation_p.S297L|CELF1_ENST00000310513.5_Missense_Mutation_p.S296L|CELF1_ENST00000361904.3_Missense_Mutation_p.S297L|CELF1_ENST00000531165.1_Missense_Mutation_p.S328L|CELF1_ENST00000358597.3_Missense_Mutation_p.S300L	p.S299L	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			9	905	-			300			Ser-rich.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.896C>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.990041	0.93106	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.40756	1.02;1.02;1.54;1.02;1.54;1.54;1.02	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.34542	0.0901	L	0.31926	0.97	0.80722	D	1	B;B;B;B;B;B	0.26809	0.16;0.16;0.16;0.16;0.16;0.099	B;B;B;B;B;B	0.25405	0.06;0.06;0.06;0.06;0.06;0.017	T	0.14643	-1.0465	10	0.10111	T	0.7	-8.5522	20.2617	0.98447	0.0:0.0:1.0:0.0	.	299;328;326;296;297;300	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	L	299;300;297;296;297;328;326	ENSP00000378705:S299L;ENSP00000351409:S300L;ENSP00000378706:S297L;ENSP00000308386:S296L;ENSP00000354639:S297L;ENSP00000436864:S328L;ENSP00000435926:S326L	ENSP00000308386:S296L	S	-	2	0	CELF1	47455078	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.354000	0.97083	2.793000	0.96121	0.655000	0.94253	TCA		0.463	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		26	34	0	0	0	1	0	26	34				
AGAP11	119385	broad.mit.edu	37	10	88769470	88769470	+	RNA	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr10:88769470C>T	ENST00000444431.1	+	0	4070				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GGGAGGGAGACGGCTGCACGG	0.672																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769470C>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769470C>T						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	4070	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.672	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		36	81	0	0	0	1	0	36	81				
ZNF773	374928	broad.mit.edu	37	19	58018648	58018648	+	Missense_Mutation	SNP	C	C	A	rs376286259		TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:58018648C>A	ENST00000282292.4	+	4	1325	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	ZNF773_ENST00000598770.1_Missense_Mutation_p.F394L|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	395					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GTGGGAGATTCTTTAGTGAGA	0.423																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1183-1185)ttC>ttA		zinc finger protein 773							103.0	107.0	106.0					19																	58018648		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58018648C>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1185C>A	19.37:g.58018648C>A	ENSP00000282292:p.Phe395Leu					ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.F394L|ZNF773_ENST00000593916.1_Intron	p.F395L	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	1325	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	395					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.1185C>A	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	c	0.570	-0.841524	0.02692	.	.	ENSG00000152439	ENST00000282292	T	0.17691	2.26	1.03	-1.49	0.08718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05044	0.0135	N	0.01188	-0.97	0.21184	N	0.999767	B;P	0.38280	0.003;0.625	B;B	0.38156	0.002;0.266	T	0.24368	-1.0162	9	0.54805	T	0.06	.	3.0804	0.06260	0.0:0.2637:0.24:0.4962	.	394;395	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	L	395	ENSP00000282292:F395L	ENSP00000282292:F395L	F	+	3	2	ZNF773	62710460	0.000000	0.05858	0.050000	0.19076	0.834000	0.47266	-3.003000	0.00651	-0.453000	0.07076	-0.676000	0.03789	TTC		0.423	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		42	31	1	0	1.8453e-21	1	1.89261e-21	42	31				
SPP2	6694	broad.mit.edu	37	2	234959502	234959502	+	Silent	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr2:234959502C>T	ENST00000168148.3	+	1	160	c.72C>T	c.(70-72)taC>taT	p.Y24Y	SPP2_ENST00000373368.1_Silent_p.Y24Y|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	24					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GAATGAACTACTGGTCTTGCT	0.473																																						ENST00000168148.3																			0				breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(70-72)taC>taT		secreted phosphoprotein 2, 24kDa							278.0	250.0	260.0					2																	234959502		2203	4300	6503	SO:0001819	synonymous_variant	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234959502C>T		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.72C>T	2.37:g.234959502C>T						SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Silent_p.Y24Y	p.Y24Y	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	1	160	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	24					A4QMV3|Q3B892|Q546M5	Silent	SNP	ENST00000168148.3	37	c.72C>T	CCDS2511.1																																																																																				0.473	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		49	88	0	0	0	1	0	49	88				
FAIM	55179	broad.mit.edu	37	3	138351879	138351879	+	Silent	SNP	T	T	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr3:138351879T>G	ENST00000393035.2	+	5	607	c.498T>G	c.(496-498)acT>acG	p.T166T	FAIM_ENST00000464668.1_Silent_p.T166T|FAIM_ENST00000360570.3_Silent_p.T188T|FAIM_ENST00000393034.2_Silent_p.T166T|FAIM_ENST00000338446.4_Silent_p.T200T	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	166					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						TTATTCATACTCTCATTGTGG	0.358																																						ENST00000338446.4																			0				kidney(1)|upper_aerodigestive_tract(1)	2						c.(598-600)acT>acG		Fas apoptotic inhibitory molecule							108.0	112.0	111.0					3																	138351879		2203	4300	6503	SO:0001819	synonymous_variant	55179				apoptosis	cytoplasm		g.chr3:138351879T>G	AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.498T>G	3.37:g.138351879T>G						FAIM_ENST00000393034.2_Silent_p.T166T|FAIM_ENST00000393035.2_Silent_p.T166T|FAIM_ENST00000464668.1_Silent_p.T166T|FAIM_ENST00000360570.3_Silent_p.T188T	p.T200T	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN			6	1283	+			166					Q6IAN2	Silent	SNP	ENST00000393035.2	37	c.600T>G	CCDS3103.1																																																																																				0.358	FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357979.1	NM_001033032		33	42	0	0	0	1	0	33	42				
CYP3A43	64816	broad.mit.edu	37	7	99453218	99453218	+	Silent	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr7:99453218C>T	ENST00000354829.2	+	8	778	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000312017.5_Silent_p.L225L|CYP3A43_ENST00000222382.5_Silent_p.L225L|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Silent_p.L115L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	225			Missing (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	CTATAGCACTCTTTCCATTTC	0.279																																						ENST00000354829.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(673-675)ctC>ctT		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						52.0	52.0	52.0					7																	99453218		2199	4298	6497	SO:0001819	synonymous_variant	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99453218C>T	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.675C>T	7.37:g.99453218C>T						CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.L225L|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Silent_p.L225L|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_Silent_p.L115L	p.L225L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN			8	778	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		225		Missing (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Silent	SNP	ENST00000354829.2	37	c.675C>T	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	8.832	0.940164	0.18281	.	.	ENSG00000021461	ENST00000379654	.	.	.	2.69	-1.25	0.09405	.	0.381541	0.24803	N	0.035464	T	0.48295	0.1492	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.47394	-0.9121	6	0.87932	D	0	.	1.0679	0.01615	0.3926:0.2793:0.1935:0.1346	.	.	.	.	F	119	.	ENSP00000368975:L119F	L	+	1	0	CYP3A43	99291154	0.000000	0.05858	0.305000	0.25099	0.717000	0.41224	-3.934000	0.00331	-0.041000	0.13558	0.195000	0.17529	CTT		0.279	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			14	20	0	0	0	1	0	14	20				
MLIP	90523	broad.mit.edu	37	6	53989659	53989659	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr6:53989659G>A	ENST00000274897.5	+	3	721	c.608G>A	c.(607-609)gGg>gAg	p.G203E	MLIP_ENST00000370877.2_Missense_Mutation_p.G151E|MLIP_ENST00000370876.2_Missense_Mutation_p.G141E|MLIP_ENST00000502396.1_Missense_Mutation_p.G214E|MLIP_ENST00000509997.1_Missense_Mutation_p.G151E|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000514921.1_Missense_Mutation_p.G203E|MLIP_ENST00000358276.5_Missense_Mutation_p.G197E	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	203						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						CAAAAGCATGGGCAGGTAGGT	0.493																																						ENST00000514921.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(607-609)gGg>gAg		muscular LMNA-interacting protein							44.0	41.0	42.0					6																	53989659		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:53989659G>A	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.608G>A	6.37:g.53989659G>A	ENSP00000274897:p.Gly203Glu					MLIP_ENST00000370876.2_Missense_Mutation_p.G141E|MLIP_ENST00000502396.1_Missense_Mutation_p.G214E|MLIP_ENST00000358276.5_Missense_Mutation_p.G197E|MLIP_ENST00000370877.2_Missense_Mutation_p.G151E|MLIP_ENST00000274897.5_Missense_Mutation_p.G203E|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Missense_Mutation_p.G151E	p.G203E			Q5VWP3	MLIP_HUMAN			3	721	+			203					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.608G>A	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876098	0.33162	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.68	1.41	0.22369	.	0.701703	0.13820	N	0.360470	T	0.24353	0.0590	L	0.44542	1.39	0.09310	N	1	D;D;P;B;D	0.67145	0.996;0.996;0.946;0.169;0.989	P;D;P;B;P	0.65773	0.901;0.938;0.586;0.056;0.893	T	0.03433	-1.1037	9	.	.	.	-0.1006	7.1835	0.25786	0.0:0.291:0.3765:0.3325	.	214;214;141;203;203	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	E	203;203;151;151;141;85;85;162;214;197;85;204	ENSP00000274897:G203E;ENSP00000425142:G203E;ENSP00000359914:G151E;ENSP00000427584:G151E;ENSP00000359913:G141E;ENSP00000411917:G85E;ENSP00000427057:G85E;ENSP00000426830:G162E;ENSP00000426290:G214E;ENSP00000351019:G197E;ENSP00000421444:G204E	.	G	+	2	0	MLIP	54097618	0.135000	0.22499	0.871000	0.34182	0.658000	0.38924	0.253000	0.18296	0.670000	0.31165	0.655000	0.94253	GGG		0.493	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		9	18	0	0	0	1	0	9	18				
PLA2G3	50487	broad.mit.edu	37	22	31535869	31535869	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr22:31535869A>G	ENST00000215885.3	-	1	724	c.472T>C	c.(472-474)Tgg>Cgg	p.W158R		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	158	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACTCCACACCACAGTGTGCCA	0.622																																						ENST00000215885.3																			0				large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						c.(472-474)Tgg>Cgg		phospholipase A2, group III							98.0	87.0	91.0					22																	31535869		2203	4300	6503	SO:0001583	missense	50487				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity	g.chr22:31535869A>G	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.472T>C	22.37:g.31535869A>G	ENSP00000215885:p.Trp158Arg						p.W158R	NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN			1	724	-			158			Phospholipase A2-like.		O95768	Missense_Mutation	SNP	ENST00000215885.3	37	c.472T>C	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383649	0.82792	.	.	ENSG00000100078	ENST00000215885	T	0.60424	0.19	5.17	5.17	0.71159	Phospholipase A2 (3);	0.000000	0.85682	D	0.000000	D	0.82536	0.5058	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87576	0.2481	10	0.87932	D	0	-12.1672	12.5383	0.56154	1.0:0.0:0.0:0.0	.	158	Q9NZ20	PA2G3_HUMAN	R	158	ENSP00000215885:W158R	ENSP00000215885:W158R	W	-	1	0	PLA2G3	29865869	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.545000	0.82128	1.952000	0.56665	0.482000	0.46254	TGG		0.622	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715		12	18	0	0	0	1	0	12	18				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			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		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(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>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		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.chr2:209113112C>T		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			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.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			16	39	0	0	0	1	0	16	39				
RASGRF2	5924	broad.mit.edu	37	5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:80408515C>T	ENST00000265080.4	+	14	1992	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	642	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCGTTATGCCAGCGTGGAG	0.483																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1924-1926)gCc>gTc		Ras protein-specific guanine nucleotide-releasing factor 2							195.0	191.0	193.0					5																	80408515		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408515C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1925C>T	5.37:g.80408515C>T	ENSP00000265080:p.Ala642Val						p.A642V	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	1992	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	642			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.1925C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	35	5.456331	0.96223	.	.	ENSG00000113319	ENST00000265080	T	0.55588	0.51	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78071	-0.2347	10	0.87932	D	0	.	19.684	0.95974	0.0:1.0:0.0:0.0	.	642	O14827	RGRF2_HUMAN	V	642	ENSP00000265080:A642V	ENSP00000265080:A642V	A	+	2	0	RASGRF2	80444271	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.758000	0.85224	2.752000	0.94435	0.558000	0.71614	GCC		0.483	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		4	205	0	0	0	1	0	4	205				
CEP120	153241	broad.mit.edu	37	5	122754074	122754074	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:122754074C>T	ENST00000306467.5	-	2	489	c.185G>A	c.(184-186)aGg>aAg	p.R62K	CEP120_ENST00000395431.2_Missense_Mutation_p.R62K|CEP120_ENST00000306481.6_Missense_Mutation_p.R36K|CEP120_ENST00000328236.5_Missense_Mutation_p.R62K			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	62					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGCGCTTTCCTGTCAATTTC	0.383																																						ENST00000306467.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(184-186)aGg>aAg		centrosomal protein 120kDa							122.0	113.0	116.0					5																	122754074		1932	4145	6077	SO:0001583	missense	153241					centrosome		g.chr5:122754074C>T	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.185G>A	5.37:g.122754074C>T	ENSP00000303058:p.Arg62Lys					CEP120_ENST00000328236.5_Missense_Mutation_p.R62K|CEP120_ENST00000395431.2_Missense_Mutation_p.R62K|CEP120_ENST00000306481.6_Missense_Mutation_p.R36K	p.R62K			Q8N960	CE120_HUMAN			2	489	-			62					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.185G>A	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109546	0.77096	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442;ENST00000395431	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.32	5.32	0.75619	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	L	0.31294	0.92	0.53688	D	0.999977	P	0.43431	0.807	P	0.46543	0.52	T	0.59679	-0.7409	10	0.10111	T	0.7	-15.0545	19.3603	0.94434	0.0:1.0:0.0:0.0	.	62	Q8N960	CE120_HUMAN	K	62;62;36;36;62	ENSP00000303058:R62K;ENSP00000327504:R62K;ENSP00000307419:R36K;ENSP00000421620:R36K;ENSP00000378819:R62K	ENSP00000303058:R62K	R	-	2	0	CEP120	122781973	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.200000	0.77838	2.639000	0.89480	0.650000	0.86243	AGG		0.383	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		19	23	0	0	0	1	0	19	23				
CAPN9	10753	broad.mit.edu	37	1	230903392	230903392	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr1:230903392G>C	ENST00000271971.2	+	5	755	c.642G>C	c.(640-642)gaG>gaC	p.E214D	CAPN9_ENST00000354537.1_Missense_Mutation_p.E214D|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.E151D	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	214	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGGCCCCCGAGAACTTCTATG	0.537																																						ENST00000354537.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(640-642)gaG>gaC		calpain 9							100.0	107.0	105.0					1																	230903392		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230903392G>C	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.642G>C	1.37:g.230903392G>C	ENSP00000271971:p.Glu214Asp					RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.E214D|CAPN9_ENST00000366666.2_Missense_Mutation_p.E151D	p.E214D	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			5	724	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	214			Calpain catalytic.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.642G>C	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.853718	0.32791	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	T;T;T	0.13307	2.6;2.6;2.6	5.32	4.3	0.51218	Peptidase C2, calpain, catalytic domain (3);	0.483859	0.25347	N	0.031327	T	0.05731	0.0150	N	0.05306	-0.075	0.31545	N	0.659407	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.06409	-1.0828	10	0.35671	T	0.21	.	4.8281	0.13427	0.1667:0.4432:0.39:0.0	.	151;214;214	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	D	214;214;151	ENSP00000271971:E214D;ENSP00000346538:E214D;ENSP00000355626:E151D	ENSP00000271971:E214D	E	+	3	2	CAPN9	228970015	0.334000	0.24739	0.982000	0.44146	0.913000	0.54294	0.109000	0.15417	2.474000	0.83562	0.655000	0.94253	GAG		0.537	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615		39	51	0	0	0	1	0	39	51				
TXNDC16	57544	broad.mit.edu	37	14	52985913	52985913	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr14:52985913T>C	ENST00000281741.4	-	7	862	c.491A>G	c.(490-492)tAt>tGt	p.Y164C	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	164					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GGCTCTTACATATGAGAATAT	0.318																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.(490-492)tAt>tGt		thioredoxin domain containing 16							86.0	90.0	88.0					14																	52985913		2203	4287	6490	SO:0001583	missense	57544				cell redox homeostasis	extracellular region		g.chr14:52985913T>C	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.491A>G	14.37:g.52985913T>C	ENSP00000281741:p.Tyr164Cys					TXNDC16_ENST00000554399.1_Intron	p.Y164C	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			7	862	-	Breast(41;0.0716)		164					A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	c.491A>G	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	T	18.70	3.679260	0.68042	.	.	ENSG00000087301	ENST00000281741	T	0.41065	1.01	5.58	5.58	0.84498	.	0.057454	0.64402	D	0.000001	T	0.63498	0.2516	M	0.69823	2.125	0.47407	D	0.99941	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.67364	-0.5689	10	0.87932	D	0	-6.0987	13.7159	0.62695	0.0:0.0:0.0:1.0	.	159;164	B7ZME4;Q9P2K2	.;TXD16_HUMAN	C	164	ENSP00000281741:Y164C	ENSP00000281741:Y164C	Y	-	2	0	TXNDC16	52055663	1.000000	0.71417	0.870000	0.34147	0.904000	0.53231	5.408000	0.66368	2.126000	0.65437	0.533000	0.62120	TAT		0.318	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699		22	10	0	0	0	1	0	22	10				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	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		4	124	0	0	0	1	0	4	124				
NCAM2	4685	broad.mit.edu	37	21	22710761	22710761	+	Silent	SNP	A	A	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr21:22710761A>G	ENST00000400546.1	+	8	1200	c.951A>G	c.(949-951)caA>caG	p.Q317Q	NCAM2_ENST00000535285.1_Silent_p.Q342Q|NCAM2_ENST00000284894.7_Silent_p.Q175Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	317	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAATGGTCAAGTCACACTCG	0.393																																						ENST00000400546.1																			0				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(949-951)caA>caG		neural cell adhesion molecule 2							68.0	66.0	67.0					21																	22710761		1890	4099	5989	SO:0001819	synonymous_variant	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22710761A>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.951A>G	21.37:g.22710761A>G						NCAM2_ENST00000284894.7_Silent_p.Q175Q|NCAM2_ENST00000535285.1_Silent_p.Q342Q	p.Q317Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	8	1200	+		Lung NSC(9;0.195)	317			Ig-like C2-type 4.		A8MQ06|B7Z841|Q7Z7F2	Silent	SNP	ENST00000400546.1	37	c.951A>G	CCDS42910.1																																																																																				0.393	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		14	27	0	0	0	1	0	14	27				
DNAI1	27019	broad.mit.edu	37	9	34493301	34493301	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr9:34493301G>A	ENST00000242317.4	+	9	962	c.791G>A	c.(790-792)aGg>aAg	p.R264K	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	264					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ATGGCCATGAGGAAGCTGACA	0.478									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(790-792)aGg>aAg		dynein, axonemal, intermediate chain 1							108.0	104.0	105.0					9																	34493301		2203	4300	6503	SO:0001583	missense	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34493301G>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.791G>A	9.37:g.34493301G>A	ENSP00000242317:p.Arg264Lys					DNAI1_ENST00000488369.1_3'UTR	p.R264K	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	9	962	+	all_epithelial(49;0.244)		264					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.791G>A	CCDS6557.1	.	.	.	.	.	.	.	.	.	.	G	2.840	-0.240655	0.05944	.	.	ENSG00000122735	ENST00000396929;ENST00000242317;ENST00000437363	T;T	0.27557	1.66;1.66	5.36	3.51	0.40186	.	0.280045	0.32488	N	0.006038	T	0.10252	0.0251	N	0.02266	-0.62	0.80722	D	1	B	0.11235	0.004	B	0.09377	0.004	T	0.13656	-1.0501	10	0.07175	T	0.84	.	8.7094	0.34374	0.1775:0.0:0.8225:0.0	.	264	Q9UI46	DNAI1_HUMAN	K	253;264;253	ENSP00000242317:R264K;ENSP00000395396:R253K	ENSP00000242317:R264K	R	+	2	0	DNAI1	34483301	1.000000	0.71417	0.877000	0.34402	0.108000	0.19459	3.758000	0.55220	0.643000	0.30638	0.563000	0.77884	AGG		0.478	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			18	30	0	0	0	1	0	18	30				
CCR2	729230	broad.mit.edu	37	3	46399083	46399083	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr3:46399083C>G	ENST00000400888.2	+	1	104	c.65C>G	c.(64-66)aCc>aGc	p.T22S	CCR2_ENST00000292301.4_Missense_Mutation_p.T22S|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.T22S			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	22					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GAAGTCACCACCTTTTTTGAT	0.468																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(64-66)aCc>aGc		chemokine (C-C motif) receptor 2							199.0	176.0	183.0					3																	46399083		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399083C>G		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.65C>G	3.37:g.46399083C>G	ENSP00000383681:p.Thr22Ser					CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Missense_Mutation_p.T22S|CCR2_ENST00000445132.2_Missense_Mutation_p.T22S	p.T22S	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	550	+			22					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.65C>G	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294787	0.23564	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.69040	-0.37;-0.34;1.29;-0.34	4.77	3.87	0.44632	.	0.963063	0.08499	N	0.936741	T	0.55097	0.1899	L	0.31294	0.92	0.28473	N	0.915327	B;B	0.26975	0.126;0.165	B;B	0.25291	0.059;0.031	T	0.41945	-0.9480	10	0.19590	T	0.45	.	12.3459	0.55119	0.0:0.9144:0.0:0.0856	.	22;22	P41597;Q4VBL2	CCR2_HUMAN;.	S	22	ENSP00000399285:T22S;ENSP00000292301:T22S;ENSP00000396736:T22S;ENSP00000383681:T22S	ENSP00000292301:T22S	T	+	2	0	CCR2	46374087	0.005000	0.15991	0.798000	0.32154	0.013000	0.08279	2.004000	0.40854	1.087000	0.41251	0.650000	0.86243	ACC		0.468	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		32	52	0	0	0	1	0	32	52				
PTK7	5754	broad.mit.edu	37	6	43109996	43109996	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr6:43109996G>A	ENST00000230419.4	+	13	2227	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	PTK7_ENST00000352931.2_Intron|PTK7_ENST00000481273.1_Missense_Mutation_p.S677N|PTK7_ENST00000345201.2_Missense_Mutation_p.S629N|PTK7_ENST00000349241.2_Missense_Mutation_p.S539N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	669	Ig-like C2-type 7.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGGCAACAGCTGCAACATC	0.597																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2005-2007)aGc>aAc		protein tyrosine kinase 7							67.0	59.0	61.0					6																	43109996		2203	4300	6503	SO:0001583	missense	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109996G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2006G>A	6.37:g.43109996G>A	ENSP00000230419:p.Ser669Asn					PTK7_ENST00000349241.2_Missense_Mutation_p.S539N|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.S629N|PTK7_ENST00000481273.1_Missense_Mutation_p.S677N	p.S669N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		13	2227	+			669			Ig-like C2-type 7.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.2006G>A	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672671	0.67928	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000345201;ENST00000481273	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	4.96	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55986	0.1955	L	0.37750	1.13	0.58432	D	0.999996	P;B;B;B	0.42871	0.792;0.383;0.36;0.412	P;B;B;B	0.48952	0.596;0.32;0.112;0.178	T	0.60357	-0.7279	10	0.46703	T	0.11	.	13.9074	0.63845	0.0:0.1525:0.8475:0.0	.	677;539;629;669	E9PFZ5;Q13308-3;Q13308-2;Q13308	.;.;.;PTK7_HUMAN	N	669;539;629;677	ENSP00000230419:S669N;ENSP00000325462:S539N;ENSP00000325992:S629N;ENSP00000418754:S677N	ENSP00000230418:S669N	S	+	2	0	PTK7	43217974	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.334000	0.65923	2.294000	0.77228	0.467000	0.42956	AGC		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			16	22	0	0	0	1	0	16	22				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	11	0	0	0	1	0	4	11				
ZNF543	125919	broad.mit.edu	37	19	57835059	57835059	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:57835059A>G	ENST00000321545.4	+	2	373	c.28A>G	c.(28-30)Acc>Gcc	p.T10A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	10	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)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGTGTCTGTGACCTTTGAGGA	0.493																																						ENST00000321545.4																			0				breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28						c.(28-30)Acc>Gcc		zinc finger protein 543							157.0	144.0	149.0					19																	57835059		2203	4300	6503	SO:0001583	missense	125919				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57835059A>G	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.28A>G	19.37:g.57835059A>G	ENSP00000322545:p.Thr10Ala						p.T10A	NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	2	373	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	10			KRAB.		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	37	c.28A>G	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329343	0.41197	.	.	ENSG00000178229	ENST00000321545	T	0.02812	4.15	1.68	1.68	0.24146	Krueppel-associated box (4);	.	.	.	.	T	0.12135	0.0295	M	0.73430	2.235	0.21416	N	0.999697	D	0.76494	0.999	D	0.83275	0.996	T	0.04467	-1.0949	9	0.59425	D	0.04	.	8.6852	0.34234	1.0:0.0:0.0:0.0	.	10	Q08ER8	ZN543_HUMAN	A	10	ENSP00000322545:T10A	ENSP00000322545:T10A	T	+	1	0	ZNF543	62526871	0.681000	0.27614	0.198000	0.23420	0.897000	0.52465	0.900000	0.28431	1.015000	0.39444	0.383000	0.25322	ACC		0.493	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865		27	11	0	0	0	1	0	27	11				
ITPR3	3710	broad.mit.edu	37	6	33650337	33650337	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr6:33650337A>G	ENST00000374316.5	+	35	5573	c.4513A>G	c.(4513-4515)Acc>Gcc	p.T1505A	ITPR3_ENST00000605930.1_Missense_Mutation_p.T1505A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1505					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCTGCAGTCTACCACACGCCT	0.662																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(4513-4515)Acc>Gcc		inositol 1,4,5-trisphosphate receptor, type 3							53.0	52.0	52.0					6																	33650337		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33650337A>G	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.4513A>G	6.37:g.33650337A>G	ENSP00000363435:p.Thr1505Ala					ITPR3_ENST00000605930.1_Missense_Mutation_p.T1505A	p.T1505A			Q14573	ITPR3_HUMAN			35	5573	+			1505					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.4513A>G	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260850	0.23051	.	.	ENSG00000096433	ENST00000374316	T	0.61980	0.06	5.29	4.07	0.47477	.	0.175315	0.49916	D	0.000134	T	0.15132	0.0365	N	0.01576	-0.805	0.41428	D	0.987848	B	0.02656	0.0	B	0.06405	0.002	T	0.13335	-1.0513	10	0.14656	T	0.56	-48.6458	11.5609	0.50776	0.8666:0.0:0.0:0.1334	.	1505	Q14573	ITPR3_HUMAN	A	1505	ENSP00000363435:T1505A	ENSP00000363435:T1505A	T	+	1	0	ITPR3	33758315	0.997000	0.39634	1.000000	0.80357	0.882000	0.50991	2.909000	0.48758	2.002000	0.58637	0.379000	0.24179	ACC		0.662	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		25	42	0	0	0	1	0	25	42				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	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		4	125	0	0	0	1	0	4	125				
MYH7B	57644	broad.mit.edu	37	20	33578596	33578596	+	Missense_Mutation	SNP	G	G	A	rs372796334		TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr20:33578596G>A	ENST00000262873.7	+	21	2251	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H	MIR499A_ENST00000384903.1_RNA	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	678	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CACTTCGTCCGCTGCATTGTC	0.627																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2158-2160)cGc>cAc		myosin, heavy chain 7B, cardiac muscle, beta							55.0	62.0	60.0					20																	33578596		2049	4207	6256	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33578596G>A	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2159G>A	20.37:g.33578596G>A	ENSP00000262873:p.Arg720His						p.R720H	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		21	2251	+			678			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.2159G>A	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603233	0.87157	.	.	ENSG00000078814	ENST00000262873	D	0.90620	-2.7	3.8	3.8	0.43715	Myosin head, motor domain (2);	0.000000	0.38436	N	0.001684	D	0.97614	0.9218	H	0.99830	4.82	0.53005	D	0.999964	D	0.89917	1.0	D	0.97110	1.0	D	0.98223	1.0479	10	0.87932	D	0	.	14.3037	0.66371	0.0:0.1495:0.8505:0.0	.	678	A7E2Y1	MYH7B_HUMAN	H	720	ENSP00000262873:R720H	ENSP00000262873:R720H	R	+	2	0	MYH7B	33042257	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.601000	0.98297	2.422000	0.82143	0.561000	0.74099	CGC		0.627	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		26	26	0	0	0	1	0	26	26				
PCDH18	54510	broad.mit.edu	37	4	138452455	138452455	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr4:138452455G>C	ENST00000344876.4	-	1	1174	c.788C>G	c.(787-789)aCt>aGt	p.T263S	PCDH18_ENST00000412923.2_Missense_Mutation_p.T263S|PCDH18_ENST00000507846.1_Missense_Mutation_p.T43S|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAAGAGCAAAGTGCCAACCGG	0.413																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(787-789)aCt>aGt		protocadherin 18							61.0	64.0	63.0					4																	138452455		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452455G>C	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.788C>G	4.37:g.138452455G>C	ENSP00000355082:p.Thr263Ser					PCDH18_ENST00000412923.2_Missense_Mutation_p.T263S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T43S|PCDH18_ENST00000510305.1_Intron	p.T263S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	1174	-	all_hematologic(180;0.24)		263			Cadherin 3.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.788C>G	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124245	0.37533	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.56444	0.46;0.46;0.46	5.7	3.84	0.44239	Cadherin (4);Cadherin-like (1);	0.000000	0.42420	U	0.000710	T	0.54319	0.1851	L	0.44542	1.39	0.80722	D	1	B;B;B	0.32409	0.247;0.165;0.37	B;B;B	0.42625	0.393;0.106;0.185	T	0.60198	-0.7310	10	0.62326	D	0.03	.	15.7062	0.77583	0.0:0.2586:0.7414:0.0	.	43;263;263	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	S	263;263;43	ENSP00000355082:T263S;ENSP00000390688:T263S;ENSP00000425903:T43S	ENSP00000355082:T263S	T	-	2	0	PCDH18	138671905	1.000000	0.71417	0.978000	0.43139	0.735000	0.41995	6.519000	0.73768	1.369000	0.46134	0.557000	0.71058	ACT		0.413	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		31	12	0	0	0	1	0	31	12				
FRG1B	284802	broad.mit.edu	37	20	29632654	29632654	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr20:29632654A>G	ENST00000278882.3	+	8	849	c.469A>G	c.(469-471)Aaa>Gaa	p.K157E	FRG1B_ENST00000358464.4_Missense_Mutation_p.K157E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	157										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAAATAAGTAAAGAAGAGAG	0.308																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(469-471)Aaa>Gaa																																						SO:0001583	missense	0							g.chr20:29632654A>G			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.469A>G	20.37:g.29632654A>G	ENSP00000278882:p.Lys157Glu					FRG1B_ENST00000358464.4_Missense_Mutation_p.K157E	p.K157E							8	849	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.469A>G		.	.	.	.	.	.	.	.	.	.	a	8.038	0.763313	0.15914	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.44	1.44	0.22558	.	0.241003	0.41823	U	0.000806	T	0.17238	0.0414	.	.	.	0.24081	N	0.995942	B	0.15473	0.013	B	0.23852	0.049	T	0.15809	-1.0424	8	0.15952	T	0.53	.	4.3753	0.11267	0.6451:0.3549:0.0:0.0	.	157	Q9BZ01	FRG1B_HUMAN	E	157	.	ENSP00000278882:K157E	K	+	1	0	FRG1B	28246315	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.713000	0.47194	0.925000	0.37094	0.327000	0.21459	AAA		0.308	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		40	642	0	0	0	1	0	40	642				
MUC16	94025	broad.mit.edu	37	19	9075528	9075528	+	Missense_Mutation	SNP	G	G	A	rs190975208	byFrequency	TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:9075528G>A	ENST00000397910.4	-	3	12121	c.11918C>T	c.(11917-11919)gCg>gTg	p.A3973V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3975	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTGGATGACGCTGAGTGGGC	0.488													a|||	9	0.00179712	0.0068	0.0	5008	,	,		21334	0.0		0.0	False		,,,				2504	0.0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(11917-11919)gCg>gTg		mucin 16, cell surface associated		G	VAL/ALA	5,4153		0,5,2074	80.0	79.0	79.0		11918	-1.2	0.0	19		79	0,8434		0,0,4217	yes	missense	MUC16	NM_024690.2	64	0,5,6291	AA,AG,GG		0.0,0.1203,0.0397	benign	3973/14508	9075528	5,12587	2079	4217	6296	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075528G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11918C>T	19.37:g.9075528G>A	ENSP00000381008:p.Ala3973Val						p.A3973V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	12121	-			3975			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11918C>T	CCDS54212.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	a	12.61	1.991008	0.35131	0.001203	0.0	ENSG00000181143	ENST00000397910	T	0.21932	1.98	2.17	-1.23	0.09465	.	.	.	.	.	T	0.06005	0.0156	N	0.08118	0	.	.	.	B	0.13145	0.007	B	0.04013	0.001	T	0.25187	-1.0139	8	0.87932	D	0	.	2.9409	0.05830	0.0:0.3093:0.2469:0.4438	.	3973	B5ME49	.	V	3973	ENSP00000381008:A3973V	ENSP00000381008:A3973V	A	-	2	0	MUC16	8936528	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.039000	0.03550	-0.431000	0.07307	-0.919000	0.02742	GCG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	13	0	0	0	1	0	8	13				
FUBP1	8880	broad.mit.edu	37	1	78422268	78422271	+	Frame_Shift_Del	DEL	GTTT	GTTT	-			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr1:78422268_78422271delGTTT	ENST00000370768.2	-	17	1772_1775	c.1691_1694delAAAC	c.(1690-1695)caaactfs	p.QT564fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.QT564fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.QT585fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	564					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTAGT	0.407			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1690-1695)ctfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78422268_78422271delGTTT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1691_1694delAAAC	1.37:g.78422268_78422271delGTTT	ENSP00000359804:p.Gln564fs					FUBP1_ENST00000436586.2_Frame_Shift_Del_p.QT585fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.QT564fs	p.QT564fs			Q96AE4	FUBP1_HUMAN			17	1778_1781	-			564					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1691_1694delAAAC	CCDS683.1																																																																																				0.407	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		15	16						15	16	---	---	---	---
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG	rs372937970	byFrequency	TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr1:89448604_89448605insGG	ENST00000321792.5	-	2	1332_1333	c.905_906insCC	c.(904-906)ccafs	p.P302fs	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000413769.1_5'Flank|RBMXL1_ENST00000399794.2_Frame_Shift_Ins_p.P302fs|CCBL2_ENST00000370491.3_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	302	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CACCATAAGATGGCGGGGGCCC	0.475																																						ENST00000399794.2																			0											c.(904-906)ctcfs		RNA binding motif protein, X-linked-like 1																																				SO:0001589	frameshift_variant	494115						nucleotide binding|RNA binding	g.chr1:89448604_89448605insGG	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.904_905dupCC	1.37:g.89448605_89448606dupGG	ENSP00000318415:p.Pro302fs					RBMXL1_ENST00000321792.5_Frame_Shift_Ins_p.L302fs|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370491.3_Intron	p.L302fs	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN			3	1620_1621	-			302			Ser-rich.			Frame_Shift_Ins	INS	ENST00000321792.5	37	c.905_906insCC	CCDS716.1																																																																																				0.475	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		8	95						8	95	---	---	---	---
CCDC173	129881	broad.mit.edu	37	2	170506899	170506902	+	Frame_Shift_Del	DEL	TCTT	TCTT	-	rs139617634	byFrequency	TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr2:170506899_170506902delTCTT	ENST00000447353.1	-	7	1194_1197	c.1089_1092delAAGA	c.(1087-1092)gaaagafs	p.ER363fs		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	363																	CATCTTTTTCTCTTTCTCTTTTTT	0.309																																						ENST00000447353.1																			0											c.(1087-1092)gafs		coiled-coil domain containing 173																																				SO:0001589	frameshift_variant	129881							g.chr2:170506899_170506902delTCTT	BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1089_1092delAAGA	2.37:g.170506899_170506902delTCTT	ENSP00000391504:p.Glu363fs						p.ER363fs	NM_001085447.1	NP_001078916.1					7	1194_1197	-								Q6PJF6	Frame_Shift_Del	DEL	ENST00000447353.1	37	c.1089_1092delAAGA	CCDS46445.1																																																																																				0.309	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333954.2	NM_001085447		5	11						5	11	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475032	217475032	+	lincRNA	DEL	A	A	-	rs71401156	byFrequency	TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr2:217475032delA	ENST00000441803.1	+	0	195																											ATTTTATTTCAAAAAAAAAAA	0.373													|||unknown(HR)	2148	0.428914	0.2731	0.4049	5008	,	,		14255	0.5149		0.4722	False		,,,				2504	0.5235					ENST00000441803.1																			0																																																			0							g.chr2:217475032delA																													2.37:g.217475032delA														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.373	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			4	2						4	2	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795433	42795433	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:42795433delT	ENST00000575354.2	+	10	2553	c.2513delT	c.(2512-2514)gtgfs	p.V838fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.V1747fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V838fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	838	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCTTCAGGTGGCACCTGCC	0.682			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5239-5241)ggfs		capicua transcriptional repressor							14.0	16.0	15.0					19																	42795433		2190	4279	6469	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795433delT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2513delT	19.37:g.42795433delT	ENSP00000458663:p.Val838fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.V838fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.V838fs	p.V1747fs			Q96RK0	CIC_HUMAN			11	5308	+		Prostate(69;0.00682)	838					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.5240delT	CCDS12601.1																																																																																				0.682	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			9	5						9	5	---	---	---	---
RPS4Y1	6192	broad.mit.edu	37	Y	2765300	2765300	+	IGR	DEL	T	T	-			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chrY:2765300delT								RPS4Y1 (29991 upstream) : ZFY (37811 downstream)																							AGAATCAAAATTAAATGTATT	0.323																																						ENST00000515575.1																			0																																																	SO:0001628	intergenic_variant	0							g.chrY:2765300delT																													Y.37:g.2765300delT														0	42	+									RNA	DEL		37																																																																																					0	0.323									2	4						2	4	---	---	---	---
