#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
RSAD2	91543	broad.mit.edu	37	2	7030377	7030377	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:7030377T>C	ENST00000382040.3	+	4	945	c.809T>C	c.(808-810)gTt>gCt	p.V270A	RSAD2_ENST00000541728.1_Missense_Mutation_p.V163A	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAAGATTTGTTATTGGTGAT	0.413																																						ENST00000382040.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20						c.(808-810)gTt>gCt		radical S-adenosyl methionine domain containing 2							134.0	131.0	132.0					2																	7030377		2203	4300	6503	SO:0001583	missense	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7030377T>C	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.809T>C	2.37:g.7030377T>C	ENSP00000371471:p.Val270Ala					RSAD2_ENST00000541728.1_Missense_Mutation_p.V163A	p.V270A	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	4	945	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		270						Missense_Mutation	SNP	ENST00000382040.3	37	c.809T>C	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	T	11.02	1.515424	0.27123	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	D;D	0.92099	-2.97;-2.97	5.62	5.62	0.85841	Elongator protein 3/MiaB/NifB (1);	0.340913	0.34484	N	0.003938	D	0.90130	0.6916	L	0.48362	1.52	0.29761	N	0.835523	P	0.45396	0.857	B	0.43680	0.427	D	0.86803	0.1993	10	0.30078	T	0.28	-11.9051	16.1189	0.81329	0.0:0.0:0.0:1.0	.	270	Q8WXG1	RSAD2_HUMAN	A	270;163	ENSP00000371471:V270A;ENSP00000440859:V163A	ENSP00000371471:V270A	V	+	2	0	RSAD2	6947828	0.995000	0.38212	0.003000	0.11579	0.097000	0.18754	7.403000	0.79983	2.263000	0.75096	0.533000	0.62120	GTT		0.413	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657		4	84	0	0	0	1	0	4	84				
CARD16	114769	broad.mit.edu	37	11	104915359	104915359	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:104915359G>T	ENST00000375706.2	-	2	51	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	CARD16_ENST00000375704.3_Missense_Mutation_p.L12M|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.L12M	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	12	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TGGATAAACAGCTTTCTCTTC	0.418																																						ENST00000375706.2																			0				endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(34-36)Ctg>Atg		caspase recruitment domain family, member 16							302.0	278.0	286.0					11																	104915359		2202	4299	6501	SO:0001583	missense	114769							g.chr11:104915359G>T		CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.34C>A	11.37:g.104915359G>T	ENSP00000364858:p.Leu12Met					CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.L12M|CARD16_ENST00000525374.1_Missense_Mutation_p.L12M	p.L12M	NM_001017534.1	NP_001017534.1					2	51	-								Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	c.34C>A	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.543826	0.27563	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374	T;T;T	0.21191	2.02;2.02;2.02	3.34	-0.194	0.13240	DEATH-like (2);Caspase Recruitment (3);	1.492930	0.04382	U	0.360924	T	0.40222	0.1108	M	0.77820	2.39	0.09310	N	1	D;P	0.53619	0.961;0.951	P;P	0.60682	0.878;0.812	T	0.16571	-1.0398	10	0.45353	T	0.12	.	3.5662	0.07900	0.1321:0.0:0.4331:0.4348	.	12;12	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	M	12	ENSP00000364858:L12M;ENSP00000364856:L12M;ENSP00000433700:L12M	ENSP00000364856:L12M	L	-	1	2	CARD16	104420569	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.586000	0.05787	0.191000	0.20236	-0.439000	0.05793	CTG		0.418	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1			21	220	1	0	1.55469e-16	1	2.0169e-16	21	220				
IGLV3-27	28791	broad.mit.edu	37	22	23011003	23011003	+	RNA	SNP	G	G	T	rs573159010		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr22:23011003G>T	ENST00000390304.2	+	0	104									immunoglobulin lambda variable 3-27																		CCTCCTATGAGCTGACACAGC	0.562																																						ENST00000390304.2																			0																				91.0	92.0	92.0					22																	23011003		1967	4161	6128			0							g.chr22:23011003G>T	D86994		22q11.2	2012-02-08			ENSG00000211658	ENSG00000211658		"""Immunoglobulins / IGL locus"""	5910	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151171		22.37:g.23011003G>T														0	104	+									RNA	SNP	ENST00000390304.2	37																																																																																						0.562	IGLV3-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321641.1	NG_000002		6	156	1	0	0.0293803	1	0.031339	6	156				
RYR2	6262	broad.mit.edu	37	1	237664181	237664181	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:237664181G>A	ENST00000366574.2	+	21	2691	c.2374G>A	c.(2374-2376)Gtt>Att	p.V792I	RYR2_ENST00000360064.6_Missense_Mutation_p.V790I|RYR2_ENST00000542537.1_Missense_Mutation_p.V776I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	792	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTCCAGTCGTTAGTTTCTC	0.413																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2374-2376)Gtt>Att		ryanodine receptor 2 (cardiac)							216.0	198.0	204.0					1																	237664181		1895	4102	5997	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237664181G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2374G>A	1.37:g.237664181G>A	ENSP00000355533:p.Val792Ile					RYR2_ENST00000542537.1_Missense_Mutation_p.V776I|RYR2_ENST00000360064.6_Missense_Mutation_p.V790I	p.V792I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		21	2691	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	792			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2374G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	18.97	3.736151	0.69189	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.64803	-0.12;-0.12;-0.12	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.094063	0.42294	D	0.000736	T	0.47173	0.1431	N	0.13235	0.315	0.80722	D	1	P	0.42123	0.771	B	0.35073	0.195	T	0.48747	-0.9008	10	0.38643	T	0.18	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	792	Q92736	RYR2_HUMAN	I	792;790;776	ENSP00000355533:V792I;ENSP00000353174:V790I;ENSP00000443798:V776I	ENSP00000353174:V790I	V	+	1	0	RYR2	235730804	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.727000	0.74764	2.835000	0.97688	0.650000	0.86243	GTT		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	72	0	0	0	1	0	4	72				
PRMT3	10196	broad.mit.edu	37	11	20409624	20409624	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:20409624G>T	ENST00000331079.6	+	2	305	c.88G>T	c.(88-90)Gag>Tag	p.E30*	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	30					histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAGCGGGGACGAGGCCGCCTG	0.647																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(88-90)Gag>Tag		protein arginine methyltransferase 3							71.0	65.0	67.0					11																	20409624		2203	4300	6503	SO:0001587	stop_gained	10196						zinc ion binding	g.chr11:20409624G>T	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.88G>T	11.37:g.20409624G>T	ENSP00000331879:p.Glu30*					PRMT3_ENST00000437750.2_Intron	p.E30*	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			2	305	+			30					B4DUC7	Nonsense_Mutation	SNP	ENST00000331079.6	37	c.88G>T	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	G	39	7.880182	0.98539	.	.	ENSG00000185238	ENST00000331079;ENST00000541255	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	14.9455	0.71026	0.0693:0.0:0.9307:0.0	.	.	.	.	X	30	.	ENSP00000331879:E30X	E	+	1	0	PRMT3	20366200	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.519000	0.67074	1.513000	0.48852	0.655000	0.94253	GAG		0.647	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		7	53	1	0	2.0095e-06	1	2.35258e-06	7	53				
GAD2	2572	broad.mit.edu	37	10	26559616	26559616	+	Silent	SNP	C	C	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:26559616C>T	ENST00000376261.3	+	10	1526	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	GAD2_ENST00000259271.3_Silent_p.Y341Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	341					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACCGTGTACGGAGCATTTG	0.478																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1021-1023)taC>taT		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						168.0	161.0	163.0					10																	26559616		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26559616C>T	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1023C>T	10.37:g.26559616C>T						GAD2_ENST00000259271.3_Silent_p.Y341Y	p.Y341Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			10	1526	+			341					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1023C>T	CCDS7149.1																																																																																				0.478	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		15	154	0	0	0	1	0	15	154				
POLDIP3	84271	broad.mit.edu	37	22	42981905	42981905	+	Silent	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr22:42981905G>A	ENST00000252115.5	-	9	1262	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	POLDIP3_ENST00000451060.2_3'UTR|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000348657.2_Silent_p.S357S|POLDIP3_ENST00000491021.1_5'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	386					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGGGGTTGGAGGAGGAGGCAG	0.557																																					Ovarian(52;967 1128 5875 19997 42537)	ENST00000252115.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						c.(1156-1158)tcC>tcT		polymerase (DNA-directed), delta interacting protein 3							65.0	57.0	59.0					22																	42981905		2203	4300	6503	SO:0001819	synonymous_variant	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42981905G>A		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.1158C>T	22.37:g.42981905G>A						POLDIP3_ENST00000348657.2_Silent_p.S357S|POLDIP3_ENST00000451060.2_3'UTR|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron	p.S386S	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN			9	1262	-			386					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	37	c.1158C>T	CCDS14038.1																																																																																				0.557	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		3	60	0	0	0	1	0	3	60				
DLC1	10395	broad.mit.edu	37	8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	741	Focal adhesion-targeting (FAT).|Poly-Ser.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(2221-2223)aGc>aCc		deleted in liver cancer 1							56.0	47.0	50.0					8																	12957624		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12957624C>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.2222G>C	8.37:g.12957624C>G	ENSP00000276297:p.Ser741Thr					DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	p.S741T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			9	2631	-			741			Poly-Ser.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.2222G>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320479	0.81469	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07688	3.42;3.19;3.19;3.17	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	M	0.80422	2.495	0.80722	D	1	D;B;D	0.65815	0.995;0.103;0.99	P;B;D	0.72982	0.795;0.132;0.979	T	0.09975	-1.0650	10	0.66056	D	0.02	.	17.9274	0.88987	0.0:1.0:0.0:0.0	.	741;338;304	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	T	741;304;338;230	ENSP00000276297:S741T;ENSP00000351797:S304T;ENSP00000422595:S338T;ENSP00000428028:S230T	ENSP00000276297:S741T	S	-	2	0	DLC1	13001995	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.462000	0.80851	2.527000	0.85204	0.561000	0.74099	AGC		0.627	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		3	40	0	0	0	1	0	3	40				
ZBTB4	57659	broad.mit.edu	37	17	7366047	7366047	+	Missense_Mutation	SNP	A	A	C	rs560043534		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:7366047A>C	ENST00000311403.4	-	4	2593	c.2254T>G	c.(2254-2256)Tcc>Gcc	p.S752A	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S752A	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	752					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGCTGTGGGAGCCCCCACCG	0.701													A|||	1	0.000199681	0.0	0.0	5008	,	,		13515	0.001		0.0	False		,,,				2504	0.0					ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(2254-2256)Tcc>Gcc		zinc finger and BTB domain containing 4							33.0	39.0	37.0					17																	7366047		2082	4128	6210	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366047A>C	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2254T>G	17.37:g.7366047A>C	ENSP00000307858:p.Ser752Ala					ZBTB4_ENST00000380599.4_Missense_Mutation_p.S752A	p.S752A	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2593	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	752					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.2254T>G	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295217	0.23564	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.03920	3.76;3.76	5.01	1.35	0.21983	Zinc finger, C2H2 (1);	0.528672	0.18016	N	0.154401	T	0.01940	0.0061	N	0.04203	-0.255	0.19575	N	0.999962	B	0.18461	0.028	B	0.14578	0.011	T	0.43458	-0.9390	10	0.54805	T	0.06	-11.6855	0.6641	0.00848	0.4788:0.1585:0.1909:0.1718	.	752	Q9P1Z0	ZBTB4_HUMAN	A	752	ENSP00000307858:S752A;ENSP00000369973:S752A	ENSP00000307858:S752A	S	-	1	0	ZBTB4	7306771	0.987000	0.35691	0.994000	0.49952	0.859000	0.49053	0.395000	0.20850	0.397000	0.25310	0.482000	0.46254	TCC		0.701	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		4	83	0	0	0	1	0	4	83				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000423725.1_5'Flank|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		5	118	0	0	0	1	0	5	118				
ZNF584	201514	broad.mit.edu	37	19	58927216	58927216	+	Intron	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:58927216G>A	ENST00000306910.4	+	3	815				ZNF584_ENST00000596921.1_Intron|CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000599238.1_Missense_Mutation_p.V72I|ZNF584_ENST00000322834.7_Missense_Mutation_p.R100H	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		TCTGGCCTGCGTCTCCTCATT	0.488																																						ENST00000599238.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(214-216)Gtc>Atc		zinc finger protein 584							88.0	79.0	82.0					19																	58927216		876	1991	2867	SO:0001627	intron_variant	201514				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58927216G>A	AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.292+203G>A	19.37:g.58927216G>A						ZNF584_ENST00000593920.1_Intron|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000322834.7_Missense_Mutation_p.R100H|ZNF584_ENST00000306910.4_Intron	p.V72I			Q8IVC4	ZN584_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)	4	680	+		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	0			KRAB.		A8K203	Missense_Mutation	SNP	ENST00000306910.4	37	c.214G>A	CCDS12979.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426805	0.25726	.	.	ENSG00000171574	ENST00000322834	T	0.01178	5.22	2.03	-2.0	0.07433	.	.	.	.	.	T	0.01029	0.0034	.	.	.	0.09310	N	1	B	0.17038	0.02	B	0.19666	0.026	T	0.45877	-0.9231	8	0.59425	D	0.04	.	3.9448	0.09344	0.1365:0.0:0.465:0.3984	.	100	F6W0P0	.	H	100	ENSP00000320731:R100H	ENSP00000320731:R100H	R	+	2	0	ZNF584	63619028	0.000000	0.05858	0.002000	0.10522	0.160000	0.22226	-0.706000	0.05047	-0.409000	0.07553	0.313000	0.20887	CGT		0.488	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467022.1	NM_173548		4	50	0	0	0	1	0	4	50				
NRCAM	4897	broad.mit.edu	37	7	107816881	107816881	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:107816881C>A	ENST00000425651.2	-	24	3144	c.3145G>T	c.(3145-3147)Gat>Tat	p.D1049Y	NRCAM_ENST00000379028.3_Missense_Mutation_p.D1049Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1030Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1033Y|NRCAM_ENST00000413765.2_Missense_Mutation_p.D1030Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1049Y	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1049	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACCTTCATCCACAGTTGTT	0.308																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(3145-3147)Gat>Tat		neuronal cell adhesion molecule							120.0	117.0	118.0					7																	107816881		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107816881C>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3145G>T	7.37:g.107816881C>A	ENSP00000401244:p.Asp1049Tyr					NRCAM_ENST00000413765.2_Missense_Mutation_p.D1030Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1049Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1033Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.D1049Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1030Y	p.D1049Y			Q92823	NRCAM_HUMAN			27	3615	-			1049					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.3145G>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.357211	0.61293	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55	5.62	3.83	0.44106	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.087086	0.85682	D	0.000000	T	0.68550	0.3013	M	0.72894	2.215	0.80722	D	1	D;D;D;P;D	0.65815	0.993;0.995;0.967;0.947;0.973	P;D;P;P;P	0.69654	0.886;0.965;0.823;0.8;0.746	T	0.70450	-0.4868	10	0.72032	D	0.01	.	12.0278	0.53382	0.0:0.8609:0.0:0.1391	.	1049;1030;1030;1033;1049	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	Y	1049;1049;1030;1049;1033;1030;1049;1049	ENSP00000368314:D1049Y;ENSP00000407858:D1030Y;ENSP00000325269:D1033Y;ENSP00000368310:D1030Y;ENSP00000401244:D1049Y;ENSP00000368308:D1049Y	ENSP00000325269:D1033Y	D	-	1	0	NRCAM	107604117	1.000000	0.71417	0.997000	0.53966	0.892000	0.51952	3.988000	0.56951	0.736000	0.32559	0.650000	0.86243	GAT		0.308	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		6	111	1	0	2.0095e-06	1	2.35258e-06	6	111				
SETD2	29072	broad.mit.edu	37	3	47163454	47163454	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr3:47163454T>A	ENST00000409792.3	-	3	2714	c.2672A>T	c.(2671-2673)aAg>aTg	p.K891M		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	891					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTGTCCACCTTTATTCCTGG	0.388			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2671-2673)aAg>aTg		SET domain containing 2							89.0	93.0	92.0					3																	47163454		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163454T>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2672A>T	3.37:g.47163454T>A	ENSP00000386759:p.Lys891Met						p.K891M	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2714	-		Acute lymphoblastic leukemia(5;0.0169)	891					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2672A>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	T	8.267	0.812480	0.16537	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89681	-2.55;1.31	4.78	2.39	0.29439	.	0.311069	0.27429	N	0.019403	T	0.77665	0.4164	N	0.14661	0.345	0.09310	N	1	P;P	0.39576	0.679;0.454	B;B	0.40101	0.319;0.241	T	0.70070	-0.4973	10	0.87932	D	0	.	4.9318	0.13921	0.0:0.171:0.1575:0.6715	.	891;891	F2Z317;Q9BYW2	.;SETD2_HUMAN	M	891;891;891;847	ENSP00000386759:K891M;ENSP00000416401:K847M	ENSP00000386759:K891M	K	-	2	0	SETD2	47138458	0.041000	0.20044	0.488000	0.27440	0.634000	0.38068	0.321000	0.19558	0.323000	0.23307	0.533000	0.62120	AAG		0.388	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		13	82	0	0	0	1	0	13	82				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			6	58	0	0	0	1	0	6	58				
CHCHD2	51142	broad.mit.edu	37	7	56172077	56172077	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:56172077C>A	ENST00000395422.3	-	2	304	c.142G>T	c.(142-144)Gct>Tct	p.A48S		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	48						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGGGGCGCAGCAGCAGAAGAG	0.657																																						ENST00000395422.3																			0				endometrium(1)|large_intestine(1)|lung(3)	5						c.(142-144)Gct>Tct		coiled-coil-helix-coiled-coil-helix domain containing 2							14.0	16.0	15.0					7																	56172077		2199	4288	6487	SO:0001583	missense	51142					mitochondrion		g.chr7:56172077C>A	AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.142G>T	7.37:g.56172077C>A	ENSP00000378812:p.Ala48Ser						p.A48S	NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		2	304	-	Breast(14;0.214)		48					Q498C3|Q6NZ50	Missense_Mutation	SNP	ENST00000395422.3	37	c.142G>T	CCDS5526.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582408	0.65992	.	.	ENSG00000106153	ENST00000395422	T	0.48836	0.8	4.99	4.12	0.48240	.	0.117221	0.56097	D	0.000025	T	0.48892	0.1525	M	0.84433	2.695	0.58432	D	0.999998	B	0.27853	0.191	B	0.21917	0.037	T	0.51631	-0.8681	10	0.45353	T	0.12	.	8.9679	0.35887	0.0:0.7536:0.1615:0.0848	.	48	Q9Y6H1	CHCH2_HUMAN	S	48	ENSP00000378812:A48S	ENSP00000378812:A48S	A	-	1	0	CHCHD2	56139571	0.994000	0.37717	0.983000	0.44433	0.968000	0.65278	2.942000	0.49018	1.337000	0.45525	0.655000	0.94253	GCT		0.657	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251589.1	NM_016139		3	21	1	0	2.56e-06	1	2.92571e-06	3	21				
GINM1	116254	broad.mit.edu	37	6	149903651	149903651	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr6:149903651C>G	ENST00000367419.5	+	7	914	c.793C>G	c.(793-795)Cag>Gag	p.Q265E		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	265						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q265*(1)									AGTATTCTTTCAGTTTTTGAA	0.363																																						ENST00000367419.5																			1	Substitution - Nonsense(1)	p.Q265*(1)	lung(1)								c.(793-795)Cag>Gag		glycoprotein integral membrane 1							170.0	171.0	170.0					6																	149903651		2203	4300	6503	SO:0001583	missense	116254							g.chr6:149903651C>G	BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.793C>G	6.37:g.149903651C>G	ENSP00000356389:p.Gln265Glu						p.Q265E	NM_138785.3	NP_620140.1					7	914	+								B2RDY7|E1P5A2	Missense_Mutation	SNP	ENST00000367419.5	37	c.793C>G	CCDS5216.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.475920	0.26511	.	.	ENSG00000055211	ENST00000367419	.	.	.	5.59	4.44	0.53790	.	0.339562	0.35495	N	0.003164	T	0.08447	0.0210	N	0.08118	0	0.19300	N	0.999978	B	0.16802	0.019	B	0.13407	0.009	T	0.27226	-1.0080	8	.	.	.	-11.4013	11.7172	0.51661	0.8451:0.1549:0.0:0.0	.	265	Q9NU53	CF072_HUMAN	E	265	.	.	Q	+	1	0	C6orf72	149945344	0.998000	0.40836	0.547000	0.28179	0.834000	0.47266	2.346000	0.44027	1.063000	0.40649	-0.262000	0.10625	CAG		0.363	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042644.1	NM_138785		13	148	0	0	0	1	0	13	148				
ALPK2	115701	broad.mit.edu	37	18	56203463	56203463	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr18:56203463G>C	ENST00000361673.3	-	5	4169	c.3956C>G	c.(3955-3957)cCc>cGc	p.P1319R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1319						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTGATGGTGGGCTCTTCGCC	0.517																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3955-3957)cCc>cGc		alpha-kinase 2							101.0	95.0	97.0					18																	56203463		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203463G>C	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3956C>G	18.37:g.56203463G>C	ENSP00000354991:p.Pro1319Arg					RP11-1151B14.4_ENST00000591360.1_RNA	p.P1319R	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	4169	-			1319					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3956C>G	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	g	12.64	1.997292	0.35226	.	.	ENSG00000198796	ENST00000361673	T	0.45668	0.89	5.11	-1.88	0.07713	.	2.215120	0.01417	N	0.014215	T	0.32133	0.0819	L	0.40543	1.245	0.09310	N	1	B;B	0.27882	0.192;0.031	B;B	0.23018	0.043;0.012	T	0.11299	-1.0593	10	0.30078	T	0.28	1.3462	6.1599	0.20358	0.2651:0.4871:0.2478:0.0	.	1314;1319	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	R	1319	ENSP00000354991:P1319R	ENSP00000354991:P1319R	P	-	2	0	ALPK2	54354443	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.236000	0.09003	-0.224000	0.09928	0.457000	0.33378	CCC		0.517	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		3	90	0	0	0	1	0	3	90				
DAB1	1600	broad.mit.edu	37	1	57535038	57535038	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:57535038A>G	ENST00000371231.1	-	7	692	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	DAB1_ENST00000439789.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.Y220H|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371236.2_Missense_Mutation_p.Y220H|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	220					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TATACCTGATAAATGTTTTCT	0.423																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(658-660)Tat>Cat		Dab, reelin signal transducer, homolog 1 (Drosophila)							167.0	151.0	157.0					1																	57535038		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57535038A>G	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.658T>C	1.37:g.57535038A>G	ENSP00000360275:p.Tyr220His					DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371231.1_Missense_Mutation_p.Y220H|DAB1_ENST00000371234.4_Missense_Mutation_p.Y220H|DAB1_ENST00000485760.1_5'UTR	p.Y220H			O75553	DAB1_HUMAN			8	921	-			220					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.658T>C		.	.	.	.	.	.	.	.	.	.	A	21.3	4.135137	0.77662	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000371231	T;T;T	0.56611	0.87;0.87;0.45	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.66351	0.921;0.943	T	0.58120	-0.7692	10	0.21540	T	0.41	-46.4246	14.1944	0.65659	1.0:0.0:0.0:0.0	.	220;220	O75553;O75553-6	DAB1_HUMAN;.	H	220	ENSP00000360280:Y220H;ENSP00000360278:Y220H;ENSP00000360275:Y220H	ENSP00000360275:Y220H	Y	-	1	0	DAB1	57307626	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.727000	0.91480	2.279000	0.76181	0.533000	0.62120	TAT		0.423	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		4	143	0	0	0	1	0	4	143				
NCOR1P1	149934	broad.mit.edu	37	20	26094525	26094525	+	RNA	SNP	T	T	C	rs62211580		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr20:26094525T>C	ENST00000478176.1	-	0	139					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.H33R(1)									CTGCTGGTGGTGGGTGCTGGG	0.393																																						ENST00000478176.1																			1	Substitution - Missense(1)	p.H33R(1)	endometrium(1)																	513.0	373.0	415.0					20																	26094525		692	1591	2283			0							g.chr20:26094525T>C	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26094525T>C								NR_003678.1						0	139	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.393	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			3	19	0	0	0	1	0	3	19				
ZNF546	339327	broad.mit.edu	37	19	40521135	40521135	+	Missense_Mutation	SNP	C	C	T	rs111889850	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:40521135C>T	ENST00000347077.4	+	7	2174	c.1958C>T	c.(1957-1959)aCg>aTg	p.T653M	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.T627M	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	653					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCATCTCACGCAACATCAC	0.418													C|||	12	0.00239617	0.0091	0.0	5008	,	,		21680	0.0		0.0	False		,,,				2504	0.0					ENST00000347077.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1957-1959)aCg>aTg		zinc finger protein 546		C	MET/THR	9,4397	825.2+/-416.5	0,9,2194	68.0	65.0	66.0		1958	1.9	0.3	19	dbSNP_132	66	0,8600		0,0,4300	no	missense	ZNF546	NM_178544.3	81	0,9,6494	TT,TC,CC		0.0,0.2043,0.0692	probably-damaging	653/837	40521135	9,12997	2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521135C>T	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1958C>T	19.37:g.40521135C>T	ENSP00000339823:p.Thr653Met					ZNF546_ENST00000600094.1_Missense_Mutation_p.T627M|ZNF546_ENST00000596894.1_Intron	p.T653M	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	2174	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		653					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.1958C>T	CCDS12548.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	t	10.99	1.507195	0.27036	0.002043	0.0	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.08102	3.13	2.91	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	L	0.29908	0.895	0.09310	N	1	B	0.24317	0.101	B	0.21151	0.033	T	0.34378	-0.9831	9	0.54805	T	0.06	.	5.1916	0.15212	0.0:0.7305:0.0:0.2695	.	653	Q86UE3	ZN546_HUMAN	M	653;262	ENSP00000339823:T653M	ENSP00000339823:T653M	T	+	2	0	ZNF546	45212975	0.000000	0.05858	0.282000	0.24776	0.827000	0.46813	-1.249000	0.02888	0.793000	0.33875	-0.186000	0.12905	ACG		0.418	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		5	67	0	0	0	1	0	5	67				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		7	40	0	0	0	1	0	7	40				
UNC13A	23025	broad.mit.edu	37	19	17743610	17743610	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:17743610G>A	ENST00000519716.2	-	28	3408	c.3409C>T	c.(3409-3411)Cgc>Tgc	p.R1137C	UNC13A_ENST00000550896.1_Missense_Mutation_p.R1135C|UNC13A_ENST00000428389.2_Missense_Mutation_p.R1225C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1137C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1137C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1137C	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1137	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCAGGCACGCGGTCCTTGAAG	0.542																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(3673-3675)Cgc>Tgc		unc-13 homolog A (C. elegans)							103.0	108.0	107.0					19																	17743610		2125	4249	6374	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17743610G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3409C>T	19.37:g.17743610G>A	ENSP00000429562:p.Arg1137Cys					UNC13A_ENST00000519716.2_Missense_Mutation_p.R1137C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1137C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1135C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1137C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1137C	p.R1225C			Q9UPW8	UN13A_HUMAN			29	3672	-			1137			MHD1.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.3673C>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	g	13.18	2.159731	0.38119	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.81247	-1.46;-1.47;-1.46;-1.33;-1.34;-1.47	3.63	3.63	0.41609	Munc13 homology 1 (1);	0.533186	0.17065	U	0.188387	T	0.74794	0.3763	L	0.36672	1.1	0.41969	D	0.990741	P	0.45715	0.865	P	0.46339	0.513	T	0.75628	-0.3252	10	0.62326	D	0.03	.	8.4594	0.32919	0.0:0.0:0.7669:0.2331	.	1137	Q9UPW8	UN13A_HUMAN	C	1137;1225;1137;1137;1137;1135	ENSP00000429562:R1137C;ENSP00000400409:R1225C;ENSP00000252773:R1137C;ENSP00000447236:R1137C;ENSP00000447572:R1137C;ENSP00000446831:R1135C	ENSP00000252773:R1137C	R	-	1	0	UNC13A	17604610	0.918000	0.31147	0.998000	0.56505	0.538000	0.34931	0.981000	0.29526	1.585000	0.49928	0.298000	0.19748	CGC		0.542	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		4	81	0	0	0	1	0	4	81				
PADI1	29943	broad.mit.edu	37	1	17548935	17548935	+	Silent	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:17548935C>A	ENST00000375471.4	+	2	335	c.243C>A	c.(241-243)ggC>ggA	p.G81G		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	81					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TATCTGTGGGCACAGCCAGTA	0.517																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(241-243)ggC>ggA		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)						120.0	118.0	118.0					1																	17548935		2203	4300	6503	SO:0001819	synonymous_variant	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17548935C>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.243C>A	1.37:g.17548935C>A							p.G81G	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	2	335	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	81					A1L4K6|Q70SX6	Silent	SNP	ENST00000375471.4	37	c.243C>A	CCDS178.1																																																																																				0.517	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		7	116	1	0	0.00621372	1	0.0067786	7	116				
PCDHGC3	5098	broad.mit.edu	37	5	140857775	140857775	+	Missense_Mutation	SNP	C	C	G	rs200735608	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr5:140857775C>G	ENST00000308177.3	+	1	2196	c.2092C>G	c.(2092-2094)Cta>Gta	p.L698V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	698					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCTTTCTCTAATCCTGGT	0.498											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	2	0.000399361	0.0	0.0	5008	,	,		19436	0.002		0.0	False		,,,				2504	0.0					ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(2092-2094)Cta>Gta									176.0	217.0	203.0					5																	140857775		2203	4300	6503	SO:0001583	missense	0							g.chr5:140857775C>G	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.2092C>G	5.37:g.140857775C>G	ENSP00000312070:p.Leu698Val		OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron	p.L698V	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2196	+								O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	c.2092C>G	CCDS4261.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.891	-0.455477	0.04540	.	.	ENSG00000240184	ENST00000308177	T	0.53857	0.6	5.36	1.46	0.22682	.	.	.	.	.	T	0.22244	0.0536	N	0.03071	-0.42	0.23003	N	0.998448	B;B	0.24043	0.032;0.096	B;B	0.22152	0.012;0.038	T	0.24368	-1.0162	9	0.13108	T	0.6	.	5.2007	0.15262	0.0:0.4999:0.2243:0.2758	.	698;698	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	V	698	ENSP00000312070:L698V	ENSP00000312070:L698V	L	+	1	2	PCDHGC3	140837959	0.687000	0.27671	0.980000	0.43619	0.948000	0.59901	0.016000	0.13377	0.402000	0.25451	0.655000	0.94253	CTA		0.498	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		7	299	0	0	0	1	0	7	299				
ERV3-1	2086	broad.mit.edu	37	7	64453295	64453295	+	Missense_Mutation	SNP	G	G	A	rs376520157		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:64453295G>A	ENST00000394323.2	-	2	610	c.110C>T	c.(109-111)tCg>tTg	p.S37L	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	37						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gatgttccccgaccacgtagt	0.478																																						ENST00000394323.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						c.(109-111)tCg>tTg				G	LEU/SER	0,3848		0,0,1924	96.0	92.0	93.0		110	0.1	0.8	7		93	1,8273		0,1,4136	no	missense	ERV3-1	NM_001007253.3	145	0,1,6060	AA,AG,GG		0.0121,0.0,0.0082	benign	37/605	64453295	1,12121	1924	4137	6061	SO:0001583	missense	0					virion		g.chr7:64453295G>A	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.110C>T	7.37:g.64453295G>A	ENSP00000391594:p.Ser37Leu						p.S37L	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN			2	610	-			37						Missense_Mutation	SNP	ENST00000394323.2	37	c.110C>T	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.626307	0.28978	0.0	1.21E-4	ENSG00000213462	ENST00000394323	T	0.16457	2.34	0.109	0.109	0.14578	.	.	.	.	.	T	0.07503	0.0189	N	0.08118	0	0.20703	N	0.999861	B	0.14012	0.009	B	0.01281	0.0	T	0.35400	-0.9790	8	0.34782	T	0.22	.	.	.	.	.	37	Q14264	ENR1_HUMAN	L	37	ENSP00000391594:S37L	ENSP00000391594:S37L	S	-	2	0	ERV3-1	64090730	0.776000	0.28616	0.785000	0.31869	0.789000	0.44602	0.230000	0.17852	0.181000	0.19994	0.184000	0.17185	TCG		0.478	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253		4	80	0	0	0	1	0	4	80				
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:186276100A>C	ENST00000445192.2	+	7	1294	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T374P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T417P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.652																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T417P(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1249-1251)Acc>Ccc		proteoglycan 4																																				SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276100A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1249A>C	1.37:g.186276100A>C	ENSP00000399679:p.Thr417Pro					PRG4_ENST00000367483.4_Missense_Mutation_p.T376P|PRG4_ENST00000367486.3_Missense_Mutation_p.T374P|PRG4_ENST00000367485.4_Missense_Mutation_p.T324P|PRG4_ENST00000367484.3_Intron	p.T417P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1294	+			417			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1249A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	6.624	0.483511	0.12581	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.04970	3.57;3.67;3.52;3.69	3.27	-6.55	0.01854	.	.	.	.	.	T	0.01353	0.0044	N	0.00332	-1.63	0.09310	N	0.999997	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.49293	-0.8955	8	.	.	.	.	10.0961	0.42475	0.609:0.2011:0.1899:0.0	.	283;324;417;376	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	374;283;376;324;417	ENSP00000356456:T374P;ENSP00000356453:T376P;ENSP00000356455:T324P;ENSP00000399679:T417P	.	T	+	1	0	PRG4	184542723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.528000	0.02225	-2.241000	0.00709	-2.624000	0.00155	ACC		0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	56	0	0	0	1	0	7	56				
KRTAP3-1	83896	broad.mit.edu	37	17	39165307	39165307	+	Missense_Mutation	SNP	C	C	T	rs141325742	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:39165307C>T	ENST00000391588.1	-	1	59	c.20G>A	c.(19-21)cGc>cAc	p.R7H	KRTAP3-1_ENST00000581033.1_Intron	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	7	4 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GCTGCAGGAGCGGAGAGCACA	0.552																																						ENST00000391588.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(19-21)cGc>cAc		keratin associated protein 3-1		C	HIS/ARG	6,4400	11.4+/-27.6	0,6,2197	96.0	109.0	105.0		20	4.8	0.2	17	dbSNP_134	105	0,8592		0,0,4296	yes	missense	KRTAP3-1	NM_031958.1	29	0,6,6493	TT,TC,CC		0.0,0.1362,0.0462	possibly-damaging	7/99	39165307	6,12992	2203	4296	6499	SO:0001583	missense	83896					keratin filament	structural molecule activity	g.chr17:39165307C>T	AJ406931	CCDS32645.1	17q21.2	2013-06-25			ENSG00000212901	ENSG00000212901		"""Keratin associated proteins"""	16778	protein-coding gene	gene with protein product						11279113	Standard	NM_031958		Approved	KAP3.1	uc002hvt.1	Q9BYR8	OTTHUMG00000133595	ENST00000391588.1:c.20G>A	17.37:g.39165307C>T	ENSP00000375430:p.Arg7His					KRTAP3-1_ENST00000581033.1_Intron	p.R7H	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN			1	59	-		Breast(137;0.00043)	7			4 X 5 AA repeats of C-C-X(3).		Q14DM4	Missense_Mutation	SNP	ENST00000391588.1	37	c.20G>A	CCDS32645.1	.	.	.	.	.	.	.	.	.	.	C	6.309	0.425078	0.11987	0.001362	0.0	ENSG00000212901	ENST00000391588	T	0.25085	1.82	5.75	4.78	0.61160	.	1.108680	0.07026	N	0.827578	T	0.22627	0.0546	.	.	.	0.18873	N	0.999982	P	0.43412	0.806	B	0.39027	0.288	T	0.13629	-1.0502	9	0.34782	T	0.22	-3.1619	10.7809	0.46377	0.0:0.9128:0.0:0.0872	.	7	Q9BYR8	KRA31_HUMAN	H	7	ENSP00000375430:R7H	ENSP00000375430:R7H	R	-	2	0	KRTAP3-1	36418833	0.032000	0.19561	0.200000	0.23457	0.329000	0.28539	0.778000	0.26732	1.447000	0.47661	0.632000	0.83419	CGC		0.552	KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257699.1			10	108	0	0	0	1	0	10	108				
KLHL42	57542	broad.mit.edu	37	12	27934042	27934042	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:27934042G>A	ENST00000381271.2	+	1	1090	c.779G>A	c.(778-780)gGg>gAg	p.G260E	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	260					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											ATAGTGGGCGGGTACAGGATC	0.582																																						ENST00000381271.2																			0											c.(778-780)gGg>gAg		kelch-like family member 42							72.0	61.0	65.0					12																	27934042		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27934042G>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.779G>A	12.37:g.27934042G>A	ENSP00000370671:p.Gly260Glu						p.G260E	NM_020782.1	NP_065833.1					1	1090	+								Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.779G>A	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.282898	0.80692	.	.	ENSG00000087448	ENST00000381271	D	0.99494	-6.01	4.77	3.88	0.44766	Kelch-type beta propeller (1);	0.060458	0.64402	N	0.000003	D	0.99287	0.9751	H	0.97023	3.925	0.58432	D	0.999993	B	0.20261	0.043	B	0.29077	0.098	D	0.99931	1.1320	10	0.87932	D	0	.	12.0574	0.53544	0.0827:0.0:0.9173:0.0	.	260	Q9P2K6	KLDC5_HUMAN	E	260	ENSP00000370671:G260E	ENSP00000370671:G260E	G	+	2	0	KLHDC5	27825309	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	8.965000	0.93393	1.233000	0.43693	-0.218000	0.12543	GGG		0.582	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		3	41	0	0	0	1	0	3	41				
OR2M5	127059	broad.mit.edu	37	1	248309107	248309107	+	Nonsense_Mutation	SNP	C	C	T	rs41305578	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:248309107C>T	ENST00000366476.1	+	1	658	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCCTATGCTCGAGTTATTCT	0.428																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(658-660)Cga>Tga		olfactory receptor, family 2, subfamily M, member 5							289.0	279.0	283.0					1																	248309107		2203	4300	6503	SO:0001587	stop_gained	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309107C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.658C>T	1.37:g.248309107C>T	ENSP00000355432:p.Arg220*						p.R220*	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	658	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		220						Nonsense_Mutation	SNP	ENST00000366476.1	37	c.658C>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	c	16.26	3.074277	0.55646	.	.	ENSG00000162727	ENST00000366476	.	.	.	3.28	-0.951	0.10369	.	1.329380	0.06022	U	0.651541	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	0.6187	0.00774	0.2211:0.3608:0.1391:0.2789	.	.	.	.	X	220	.	ENSP00000355432:R220X	R	+	1	2	OR2M5	246375730	0.000000	0.05858	0.000000	0.03702	0.308000	0.27856	-1.296000	0.02762	-0.616000	0.05671	-0.386000	0.06593	CGA		0.428	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		6	311	0	0	0	1	0	6	311				
DRC1	92749	broad.mit.edu	37	2	26672885	26672885	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:26672885C>G	ENST00000288710.2	+	12	1605	c.1531C>G	c.(1531-1533)Ctg>Gtg	p.L511V		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	511					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AGAGAGCAAGCTGCTGAGCCT	0.607																																						ENST00000288710.2																			0											c.(1531-1533)Ctg>Gtg		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							69.0	63.0	65.0					2																	26672885		2203	4300	6503	SO:0001583	missense	92749							g.chr2:26672885C>G	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1531C>G	2.37:g.26672885C>G	ENSP00000288710:p.Leu511Val						p.L511V	NM_145038.2	NP_659475.2					12	1605	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	ENST00000288710.2	37	c.1531C>G	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262369	0.59431	.	.	ENSG00000157856	ENST00000288710;ENST00000439066	T	0.21031	2.03	5.44	1.07	0.20283	.	0.243574	0.34200	N	0.004174	T	0.24586	0.0596	L	0.58969	1.84	0.31562	N	0.657402	P	0.40083	0.702	P	0.44811	0.461	T	0.22661	-1.0210	10	0.56958	D	0.05	-7.3406	9.4686	0.38829	0.0:0.6469:0.0:0.3531	.	511	Q96MC2	CC164_HUMAN	V	511;67	ENSP00000288710:L511V	ENSP00000288710:L511V	L	+	1	2	CCDC164	26526389	0.964000	0.33143	1.000000	0.80357	0.992000	0.81027	0.077000	0.14738	0.284000	0.22305	0.485000	0.47835	CTG		0.607	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		4	34	0	0	0	1	0	4	34				
MGAT4C	25834	broad.mit.edu	37	12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:86374058C>T	ENST00000604798.1	-	8	1650	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	149					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398																																						ENST00000604798.1																			1	Substitution - Missense(1)	p.R149H(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(445-447)cGt>cAt		mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)							83.0	81.0	82.0					12																	86374058		2203	4300	6503	SO:0001583	missense	25834				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr12:86374058C>T		CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.446G>A	12.37:g.86374058C>T	ENSP00000474896:p.Arg149His					MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H	p.R149H			Q9UBM8	MGT4C_HUMAN			8	1650	-			149					B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	ENST00000604798.1	37	c.446G>A	CCDS9030.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.111685	0.37242	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	D;D;D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0;-2.0;-2.0	5.58	2.62	0.31277	.	0.169518	0.52532	D	0.000061	D	0.82568	0.5065	L	0.38175	1.15	0.40016	D	0.975341	D;D	0.57571	0.98;0.965	P;P	0.52109	0.69;0.69	T	0.78196	-0.2298	10	0.14252	T	0.57	-17.5819	14.8367	0.70190	0.3749:0.6251:0.0:0.0	.	178;149	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	H	149;178;149;149;149;149;149	ENSP00000331664:R149H;ENSP00000376900:R178H;ENSP00000449022:R149H;ENSP00000446647:R149H;ENSP00000447253:R149H;ENSP00000449172:R149H	ENSP00000331664:R149H	R	-	2	0	MGAT4C	84898189	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	6.064000	0.71169	0.683000	0.31428	-0.169000	0.13324	CGT		0.398	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406212.2	NM_013244		7	77	0	0	0	1	0	7	77				
ZNF484	83744	broad.mit.edu	37	9	95610657	95610657	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr9:95610657G>A	ENST00000375495.3	-	5	560	c.412C>T	c.(412-414)Cgt>Tgt	p.R138C	ZNF484_ENST00000395506.3_Missense_Mutation_p.R140C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Missense_Mutation_p.R102C	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	138					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R138C(2)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGACAACACGACTTAAAGGT	0.368																																						ENST00000395505.2																			2	Substitution - Missense(2)	p.R138C(2)	large_intestine(2)	NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(304-306)Cgt>Tgt		zinc finger protein 484							213.0	207.0	209.0					9																	95610657		2203	4300	6503	SO:0001583	missense	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95610657G>A	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.412C>T	9.37:g.95610657G>A	ENSP00000364645:p.Arg138Cys					ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.R140C|ZNF484_ENST00000375495.3_Missense_Mutation_p.R138C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102C	p.R102C	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN			3	396	-			138					B1AL89|B4DRI2	Missense_Mutation	SNP	ENST00000375495.3	37	c.304C>T	CCDS35066.1	.	.	.	.	.	.	.	.	.	.	.	2.518	-0.311334	0.05422	.	.	ENSG00000127081	ENST00000395505;ENST00000395506;ENST00000375495;ENST00000332591	T;T;T;T	0.07021	3.23;3.35;3.37;3.23	2.94	2.03	0.26663	.	.	.	.	.	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	D;P	0.55172	0.97;0.947	B;B	0.40534	0.332;0.332	T	0.36601	-0.9741	9	0.62326	D	0.03	.	5.7179	0.17970	0.1486:0.0:0.8514:0.0	.	140;138	B4DRI2;Q5JVG2	.;ZN484_HUMAN	C	102;140;138;102	ENSP00000378881:R102C;ENSP00000378882:R140C;ENSP00000364645:R138C;ENSP00000364646:R102C	ENSP00000364646:R102C	R	-	1	0	ZNF484	94650478	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	0.546000	0.23284	0.806000	0.34183	0.643000	0.83706	CGT		0.368	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	XM_046861		6	126	0	0	0	1	0	6	126				
MYBPC2	4606	broad.mit.edu	37	19	50957350	50957350	+	Missense_Mutation	SNP	C	C	T	rs371496229		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:50957350C>T	ENST00000357701.5	+	17	1874	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	608	Ig-like C2-type 5.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATTGAGAGTGCGCAGCGGGAA	0.602																																						ENST00000357701.5																			0				breast(1)	1						c.(1822-1824)gCg>gTg		myosin binding protein C, fast type		C	VAL/ALA	0,4260		0,0,2130	32.0	37.0	35.0		1823	2.9	0.0	19		35	1,8433		0,1,4216	no	missense	MYBPC2	NM_004533.3	64	0,1,6346	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	608/1142	50957350	1,12693	2130	4217	6347	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50957350C>T		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1823C>T	19.37:g.50957350C>T	ENSP00000350332:p.Ala608Val						p.A608V	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	17	1874	+		all_neural(266;0.057)	608			Ig-like C2-type 5.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.1823C>T	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	c	15.36	2.809892	0.50421	0.0	1.19E-4	ENSG00000086967	ENST00000357701	T	0.64618	-0.11	2.93	2.93	0.34026	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34531	U	0.003888	T	0.50240	0.1604	L	0.52573	1.65	0.39227	D	0.963611	P	0.41784	0.762	B	0.39805	0.31	T	0.54984	-0.8211	10	0.05525	T	0.97	.	13.1086	0.59261	0.0:1.0:0.0:0.0	.	608	Q14324	MYPC2_HUMAN	V	608	ENSP00000350332:A608V	ENSP00000350332:A608V	A	+	2	0	MYBPC2	55649162	1.000000	0.71417	0.020000	0.16555	0.021000	0.10359	5.046000	0.64226	1.690000	0.51089	0.394000	0.25966	GCG		0.602	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		4	20	0	0	0	1	0	4	20				
ZHX1	11244	broad.mit.edu	37	8	124267245	124267245	+	Silent	SNP	A	A	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr8:124267245A>G	ENST00000522655.1	-	3	1482	c.942T>C	c.(940-942)atT>atC	p.I314I	ZHX1_ENST00000297857.2_Silent_p.I314I|ZHX1_ENST00000395571.3_Silent_p.I314I|ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	314	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAGAACTGTAATTTCTGACA	0.403																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(940-942)atT>atC		zinc fingers and homeoboxes 1							218.0	221.0	220.0					8																	124267245		2203	4300	6503	SO:0001819	synonymous_variant	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267245A>G	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.942T>C	8.37:g.124267245A>G						ZHX1_ENST00000522655.1_Silent_p.I314I|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Silent_p.I314I	p.I314I	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1559	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		314			Required for dimerization.|Required for interaction with NFYA.		Q8IWD8	Silent	SNP	ENST00000522655.1	37	c.942T>C	CCDS6342.1																																																																																				0.403	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			8	274	0	0	0	1	0	8	274				
CACNA1E	777	broad.mit.edu	37	1	181708366	181708366	+	Silent	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:181708366C>A	ENST00000367573.2	+	25	3696	c.3696C>A	c.(3694-3696)ggC>ggA	p.G1232G	CACNA1E_ENST00000526775.1_Silent_p.G1213G|CACNA1E_ENST00000357570.5_Silent_p.G1183G|CACNA1E_ENST00000358338.5_Silent_p.G1164G|CACNA1E_ENST00000360108.3_Silent_p.G1213G|CACNA1E_ENST00000367570.1_Silent_p.G1232G|CACNA1E_ENST00000367567.4_Silent_p.G839G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1232					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGTCGTTGGCGCATTGGTGG	0.493																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(3637-3639)ggC>ggA		calcium channel, voltage-dependent, R type, alpha 1E subunit							337.0	350.0	346.0					1																	181708366		2125	4237	6362	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181708366C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3696C>A	1.37:g.181708366C>A						CACNA1E_ENST00000357570.5_Silent_p.G1183G|CACNA1E_ENST00000358338.5_Silent_p.G1164G|CACNA1E_ENST00000367567.4_Silent_p.G839G|CACNA1E_ENST00000367573.2_Silent_p.G1232G|CACNA1E_ENST00000367570.1_Silent_p.G1232G|CACNA1E_ENST00000360108.3_Silent_p.G1213G	p.G1213G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			24	3804	+			1232					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.3639C>A	CCDS55664.1																																																																																				0.493	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	154	1	0	0.000602214	1	0.000672239	5	154				
SESTD1	91404	broad.mit.edu	37	2	180008456	180008456	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:180008456C>A	ENST00000428443.3	-	9	1028	c.712G>T	c.(712-714)Gat>Tat	p.D238Y		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	238							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGTTCATCATCCATAGGAGAC	0.428																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(712-714)Gat>Tat		SEC14 and spectrin domains 1							137.0	136.0	136.0					2																	180008456		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180008456C>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.712G>T	2.37:g.180008456C>A	ENSP00000415332:p.Asp238Tyr						p.D238Y	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		9	1028	-			238					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.712G>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910877	0.72983	.	.	ENSG00000187231	ENST00000428443	T	0.05996	3.36	6.07	6.07	0.98685	.	0.043002	0.85682	D	0.000000	T	0.09730	0.0239	N	0.08118	0	0.80722	D	1	D	0.58970	0.984	P	0.57371	0.819	T	0.51044	-0.8755	9	.	.	.	-24.9578	20.6593	0.99626	0.0:1.0:0.0:0.0	.	238	Q86VW0	SESD1_HUMAN	Y	238	ENSP00000415332:D238Y	.	D	-	1	0	SESTD1	179716701	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.487000	0.81328	2.885000	0.99019	0.655000	0.94253	GAT		0.428	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		5	91	1	0	1.024e-07	1	1.29347e-07	5	91				
DSCAML1	57453	broad.mit.edu	37	11	117332280	117332280	+	Silent	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:117332280G>A	ENST00000321322.6	-	18	3479	c.3478C>T	c.(3478-3480)Ctg>Ttg	p.L1160L	DSCAML1_ENST00000527706.1_Silent_p.L890L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1100	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGATGGACAGGGCCCGGACG	0.607																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(3478-3480)Ctg>Ttg		Down syndrome cell adhesion molecule like 1							59.0	62.0	61.0					11																	117332280		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117332280G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3478C>T	11.37:g.117332280G>A						DSCAML1_ENST00000527706.1_Silent_p.L890L	p.L1160L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	18	3479	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1100			Fibronectin type-III 3.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.3478C>T	CCDS8384.1																																																																																				0.607	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		3	89	0	0	0	1	0	3	89				
WDR62	284403	broad.mit.edu	37	19	36582178	36582178	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:36582178C>T	ENST00000270301.7	+	17	2111	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	WDR62_ENST00000401500.2_Missense_Mutation_p.S704L			O43379	WDR62_HUMAN	WD repeat domain 62	704					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACTTTTACTCGGGCGAGTGC	0.582																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2110-2112)tCg>tTg		WD repeat domain 62							105.0	84.0	91.0					19																	36582178		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36582178C>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2111C>T	19.37:g.36582178C>T	ENSP00000270301:p.Ser704Leu					WDR62_ENST00000270301.7_Missense_Mutation_p.S704L	p.S704L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		17	2146	+	Esophageal squamous(110;0.162)		704					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.2111C>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	35	5.548778	0.96488	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.59906	0.87;0.23	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.149243	0.46145	D	0.000308	T	0.80193	0.4578	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.964;0.973	D	0.83964	0.0323	10	0.87932	D	0	-12.0401	16.6023	0.84819	0.0:1.0:0.0:0.0	.	704;704	O43379-4;O43379	.;WDR62_HUMAN	L	704	ENSP00000384792:S704L;ENSP00000270301:S704L	ENSP00000270301:S704L	S	+	2	0	WDR62	41274018	1.000000	0.71417	0.968000	0.41197	0.999000	0.98932	7.278000	0.78587	2.780000	0.95670	0.655000	0.94253	TCG		0.582	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		5	72	0	0	0	1	0	5	72				
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G	rs376401117	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522													.|||	3	0.000599042	0.0	0.0	5008	,	,		19711	0.002		0.0	False		,,,				2504	0.001					ENST00000449207.2																			0				lung(2)|ovary(2)|stomach(1)	5						c.(1159-1161)Atg>Ctg		PR domain containing 7		T	LEU/MET,	0,3874		0,0,1937	115.0	114.0	115.0		1159,	2.2	1.0	16		115	1,8265		0,1,4132	no	missense,intron	PRDM7	NM_001098173.1,NM_052996.2	15,	0,1,6069	GG,GT,TT		0.0121,0.0,0.0082	benign,	387/493,	90126823	1,12139	1937	4133	6070	SO:0001583	missense	11105					chromosome|nucleus	nucleic acid binding	g.chr16:90126823T>G	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990	ENST00000449207.2:c.1159A>C	16.37:g.90126823T>G	ENSP00000396732:p.Met387Leu					PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	p.M387L	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	9	1178	-		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	387					A4Q9G8|Q08EM4|Q9NQW4	Missense_Mutation	SNP	ENST00000449207.2	37	c.1159A>C	CCDS45557.1	.	.	.	.	.	.	.	.	.	.	.	7.534	0.659380	0.14645	0.0	1.21E-4	ENSG00000126856	ENST00000449207	T	0.10960	2.82	2.22	2.22	0.28083	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.80722	D	1	B	0.13594	0.008	B	0.04013	0.001	T	0.34700	-0.9818	8	.	.	.	-8.2214	6.7211	0.23330	0.0:0.0:0.0:1.0	.	387	Q9NQW5	PRDM7_HUMAN	L	387	ENSP00000396732:M387L	.	M	-	1	0	PRDM7	88654324	0.994000	0.37717	0.991000	0.47740	0.589000	0.36550	3.111000	0.50360	0.995000	0.38917	0.392000	0.25879	ATG		0.522	PRDM7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420560.1			4	79	0	0	0	1	0	4	79				
DAXX	1616	broad.mit.edu	37	6	33287278	33287278	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr6:33287278T>C	ENST00000374542.5	-	6	2023	c.1819A>G	c.(1819-1821)Atg>Gtg	p.M607V	DAXX_ENST00000414083.2_Missense_Mutation_p.M532V|DAXX_ENST00000266000.6_Missense_Mutation_p.M607V|DAXX_ENST00000477162.1_5'Flank|ZBTB22_ENST00000418724.1_5'Flank|ZBTB22_ENST00000431845.2_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	607	Interaction with MAP3K5.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GAAGAGACCATGCCTGCTCCA	0.522			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1819-1821)Atg>Gtg		death-domain associated protein							86.0	91.0	90.0					6																	33287278		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33287278T>C	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1819A>G	6.37:g.33287278T>C	ENSP00000363668:p.Met607Val					DAXX_ENST00000414083.2_Missense_Mutation_p.M532V|DAXX_ENST00000266000.6_Missense_Mutation_p.M607V	p.M607V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			6	2023	-			607			Interaction with MAP3K5.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1819A>G	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.595649	0.00125	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.82	0.876	0.19138	.	0.869647	0.10062	N	0.720739	T	0.07818	0.0196	L	0.31294	0.92	0.20926	N	0.999825	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40327	-0.9569	9	0.02654	T	1	-1.0868	6.9249	0.24410	0.0:0.2821:0.0:0.7179	.	619;607	B4E1C1;Q9UER7	.;DAXX_HUMAN	V	607;607;532	.	ENSP00000266000:M607V	M	-	1	0	DAXX	33395256	0.725000	0.28048	0.881000	0.34555	0.003000	0.03518	-0.151000	0.10175	0.011000	0.14865	-0.269000	0.10298	ATG		0.522	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			6	71	0	0	0	1	0	6	71				
NPFF	8620	broad.mit.edu	37	12	53897517	53897517	+	IGR	SNP	C	C	G			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:53897517C>G	ENST00000267017.3	-	0	592				TARBP2_ENST00000266987.2_Missense_Mutation_p.S116C|TARBP2_ENST00000394357.2_Missense_Mutation_p.S95C|RP11-793H13.11_ENST00000602306.1_RNA|TARBP2_ENST00000456234.2_Missense_Mutation_p.S95C|TARBP2_ENST00000552857.1_Missense_Mutation_p.S25C	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CCCCTAGACTCTTCACTGCCT	0.557																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(346-348)tCt>tGt		TAR (HIV-1) RNA binding protein 2							118.0	119.0	118.0					12																	53897517		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53897517C>G	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53897517C>G						TARBP2_ENST00000394357.2_Missense_Mutation_p.S95C|TARBP2_ENST00000456234.2_Missense_Mutation_p.S95C|TARBP2_ENST00000552857.1_Missense_Mutation_p.S25C	p.S116C	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			4	830	+			116					Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.347C>G	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758365	0.69763	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000552857;ENST00000549610;ENST00000394357;ENST00000550407	T;T;T	0.66099	-0.19;-0.19;-0.19	3.72	3.72	0.42706	.	0.652995	0.13775	U	0.363636	T	0.60261	0.2255	N	0.08118	0	0.44454	D	0.997383	D;D;D	0.76494	0.998;0.999;0.992	D;D;P	0.79784	0.993;0.984;0.869	T	0.63444	-0.6636	10	0.56958	D	0.05	-9.6576	11.2699	0.49133	0.0:1.0:0.0:0.0	.	116;116;116	F8VWR8;A8K3X2;Q15633	.;.;TRBP2_HUMAN	C	116;95;25;116;95;17	ENSP00000266987:S116C;ENSP00000416077:S95C;ENSP00000377885:S95C	ENSP00000266987:S116C	S	+	2	0	TARBP2	52183784	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.177000	0.50871	2.359000	0.80004	0.591000	0.81541	TCT		0.557	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		5	127	0	0	0	1	0	5	127				
CDH23	64072	broad.mit.edu	37	10	73565668	73565668	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:73565668G>T	ENST00000224721.6	+	55	7998	c.7993G>T	c.(7993-7995)Gac>Tac	p.D2665Y	CDH23_ENST00000398788.3_Missense_Mutation_p.D420Y|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2660	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGCAACCGGGACTGGGAGTT	0.652																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(7993-7995)Gac>Tac		cadherin-related 23							30.0	32.0	31.0					10																	73565668		2027	4194	6221	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73565668G>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.7993G>T	10.37:g.73565668G>T	ENSP00000224721:p.Asp2665Tyr					CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.D420Y	p.D2665Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			55	7998	+			2660			Cadherin 25.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.7993G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.641213	0.96693	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.61040	0.14	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.77525	0.4143	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78708	-0.2099	10	0.62326	D	0.03	.	19.5483	0.95308	0.0:0.0:1.0:0.0	.	2660;2660	E9PEX1;Q9H251	.;CAD23_HUMAN	Y	2665;2660;2663;420	ENSP00000381768:D420Y	ENSP00000224721:D2665Y	D	+	1	0	CDH23	73235674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.375000	0.97178	2.616000	0.88540	0.544000	0.68410	GAC		0.652	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		3	31	1	0	1	1	1	3	31				
MYH2	4620	broad.mit.edu	37	17	10442558	10442558	+	Silent	SNP	G	G	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:10442558G>T	ENST00000245503.5	-	14	1764	c.1380C>A	c.(1378-1380)atC>atA	p.I460I	MYH2_ENST00000532183.2_Silent_p.I460I|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.I460I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	460	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.I460M(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAAGACCCCGATGAAGTACT	0.478																																						ENST00000245503.5																			1	Substitution - Missense(1)	p.I460M(1)	lung(1)	NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(1378-1380)atC>atA		myosin, heavy chain 2, skeletal muscle, adult							154.0	150.0	151.0					17																	10442558		2203	4300	6503	SO:0001819	synonymous_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10442558G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.1380C>A	17.37:g.10442558G>T						MYH2_ENST00000397183.2_Silent_p.I460I|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.I460I	p.I460I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			14	1764	-			460			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	ENST00000245503.5	37	c.1380C>A	CCDS11156.1																																																																																				0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		7	196	1	0	2.27111e-07	1	2.79521e-07	7	196				
LHX1	3975	broad.mit.edu	37	17	35295534	35295534	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:35295534C>A	ENST00000254457.5	+	1	1451	c.40C>A	c.(40-42)Cgc>Agc	p.R14S	RP11-445F12.1_ENST00000529264.1_RNA|RP11-445F12.1_ENST00000528383.1_RNA|RP11-445F12.1_ENST00000532387.2_RNA|RP11-445F12.2_ENST00000607336.1_RNA|RP11-445F12.1_ENST00000525111.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	14	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell signaling (GO:0007267)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation (GO:0021937)|cerebellum development (GO:0021549)|cervix development (GO:0060067)|comma-shaped body morphogenesis (GO:0072049)|dorsal/ventral pattern formation (GO:0009953)|ectoderm formation (GO:0001705)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|embryonic viscerocranium morphogenesis (GO:0048703)|endoderm formation (GO:0001706)|epithelium development (GO:0060429)|forebrain regionalization (GO:0021871)|gastrulation with mouth forming second (GO:0001702)|head development (GO:0060322)|horizontal cell localization (GO:0035852)|kidney development (GO:0001822)|lateral motor column neuron migration (GO:0097477)|mesonephric duct development (GO:0072177)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerulus development (GO:0072224)|metanephric part of ureteric bud development (GO:0035502)|metanephric renal vesicle morphogenesis (GO:0072283)|metanephric S-shaped body morphogenesis (GO:0072284)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct elongation (GO:0035849)|nephric duct morphogenesis (GO:0072178)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|oviduct development (GO:0060066)|oviduct epithelium development (GO:0035846)|paramesonephric duct development (GO:0061205)|pattern specification process (GO:0007389)|positive regulation of anterior head development (GO:2000744)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|primitive streak formation (GO:0090009)|pronephros development (GO:0048793)|regulation of gene expression (GO:0010468)|renal vesicle morphogenesis (GO:0072077)|retina layer formation (GO:0010842)|S-shaped body morphogenesis (GO:0072050)|somite rostral/caudal axis specification (GO:0032525)|spinal cord association neuron differentiation (GO:0021527)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)|uterine epithelium development (GO:0035847)|uterus development (GO:0060065)|vagina development (GO:0060068)|ventral spinal cord development (GO:0021517)	nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CATCCTGGACCGCTTTCTCTT	0.567																																						ENST00000254457.5																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(40-42)Cgc>Agc		LIM homeobox 1							101.0	91.0	94.0					17																	35295534		2203	4300	6503	SO:0001583	missense	3975				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr17:35295534C>A	U14755	CCDS11316.1	17q12	2014-04-11			ENSG00000132130	ENSG00000273706		"""Homeoboxes / LIM class"""	6593	protein-coding gene	gene with protein product		601999				9212161	Standard	NM_005568		Approved	LIM-1, LIM1	uc002hnh.2	P48742	OTTHUMG00000188456	ENST00000254457.5:c.40C>A	17.37:g.35295534C>A	ENSP00000254457:p.Arg14Ser						p.R14S	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN			1	1451	+		Breast(25;0.00607)	14			LIM zinc-binding 1.		Q3MIW0	Missense_Mutation	SNP	ENST00000254457.5	37	c.40C>A	CCDS11316.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724865	0.68959	.	.	ENSG00000132130	ENST00000254457	D	0.87729	-2.29	5.09	4.09	0.47781	Zinc finger, LIM-type (5);	0.000000	0.64402	U	0.000001	D	0.92090	0.7493	M	0.66439	2.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92802	0.6257	10	0.87932	D	0	.	13.8577	0.63540	0.1536:0.8463:0.0:0.0	.	14	P48742	LHX1_HUMAN	S	14	ENSP00000254457:R14S	ENSP00000254457:R14S	R	+	1	0	LHX1	32369647	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.483000	0.45233	1.315000	0.45114	0.491000	0.48974	CGC		0.567	LHX1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256704.3	NM_005568		3	88	1	0	0.150653	1	0.157204	3	88				
SLIT1	6585	broad.mit.edu	37	10	98806792	98806792	+	Silent	SNP	C	C	T			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:98806792C>T	ENST00000266058.4	-	17	1910	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	SLIT1_ENST00000371070.4_Silent_p.L555L|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	555					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGTGGCCTCCAGGATGGAAA	0.423																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(1663-1665)ctG>ctA		slit homolog 1 (Drosophila)							70.0	65.0	66.0					10																	98806792		2203	4300	6503	SO:0001819	synonymous_variant	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98806792C>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.1665G>A	10.37:g.98806792C>T						ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.L555L	p.L555L	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	17	1910	-		Colorectal(252;0.162)	555					Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	c.1665G>A	CCDS7453.1																																																																																				0.423	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		5	53	0	0	0	1	0	5	53				
GPR84	53831	broad.mit.edu	37	12	54757587	54757587	+	Silent	SNP	G	G	A			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:54757587G>A	ENST00000551809.1	-	1	684	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	GPR84_ENST00000267015.3_Silent_p.L17L|RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGATAGCCCAGCACAGACTCA	0.557																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(49-51)Ctg>Ttg		G protein-coupled receptor 84							111.0	81.0	91.0					12																	54757587		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54757587G>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.49C>T	12.37:g.54757587G>A						GPR84_ENST00000267015.3_Silent_p.L17L|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	p.L17L			Q9NQS5	GPR84_HUMAN			1	684	-			17					B6V9G7	Silent	SNP	ENST00000551809.1	37	c.49C>T	CCDS8878.1																																																																																				0.557	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			3	39	0	0	0	1	0	3	39				
KLHL8	57563	broad.mit.edu	37	4	88116634	88116634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr4:88116634delT	ENST00000273963.5	-	2	399	c.58delA	c.(58-60)aggfs	p.R20fs	KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000425278.2_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000512111.1_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000498875.2_Frame_Shift_Del_p.R20fs	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	20					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGTTGTTGCCTTTTCCCCTTT	0.363																																						ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(58-60)ggfs		kelch-like family member 8							208.0	209.0	209.0					4																	88116634		2203	4300	6503	SO:0001589	frameshift_variant	57563							g.chr4:88116634delT	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.58delA	4.37:g.88116634delT	ENSP00000273963:p.Arg20fs					KLHL8_ENST00000512111.1_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000425278.2_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000498875.2_Frame_Shift_Del_p.R20fs	p.R20fs	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	2	399	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	20					Q53XA3|Q6N018	Frame_Shift_Del	DEL	ENST00000273963.5	37	c.58delA	CCDS3617.1																																																																																				0.363	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			7	230						7	230	---	---	---	---
FABP2	2169	broad.mit.edu	37	4	120240226	120240226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr4:120240226delT	ENST00000274024.3	-	4	656	c.369delA	c.(367-369)gtafs	p.V123fs		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	123					digestion (GO:0007586)	cytoplasm (GO:0005737)	fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8					Estradiol(DB00783)|Ibuprofen(DB01050)|Sulfinpyrazone(DB01138)	TTTTGGCTTCTACTCCTTCAT	0.294																																						ENST00000274024.3																			0				breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						c.(367-369)gtfs		fatty acid binding protein 2, intestinal							118.0	119.0	119.0					4																	120240226		2203	4297	6500	SO:0001589	frameshift_variant	2169						fatty acid binding	g.chr4:120240226delT	J03465	CCDS3712.1	4q28-q31	2013-03-01			ENSG00000145384	ENSG00000145384		"""Fatty acid binding protein family"""	3556	protein-coding gene	gene with protein product		134640					Standard	NM_000134		Approved	I-FABP	uc003icw.3	P12104	OTTHUMG00000132972	ENST00000274024.3:c.369delA	4.37:g.120240226delT	ENSP00000274024:p.Val123fs						p.V123fs	NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN			4	656	-			123					Q2NKJ1	Frame_Shift_Del	DEL	ENST00000274024.3	37	c.369delA	CCDS3712.1																																																																																				0.294	FABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256531.1	NM_000134		14	161						14	161	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:100369721delT	ENST00000348028.3	+	0	5590				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ctctaaattcttttttttttt	0.532																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369721delT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369721delT						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.532	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
GRIN1	2902	broad.mit.edu	37	9	140056884	140056886	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr9:140056884_140056886delGAG	ENST00000371561.3	+	13	2877_2879	c.1780_1782delGAG	c.(1780-1782)gagdel	p.E598del	GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	598					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTGAACAGCGAGGAGGAGGAGG	0.739																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1780-1782)del		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)		,,,,	95,4145		0,95,2025					,,,,	-5.9	1.0			22	193,8033		5,183,3925	no	coding,coding,coding,coding,coding	GRIN1	NM_021569.3,NM_007327.3,NM_001185091.1,NM_001185090.1,NM_000832.6	,,,,	5,278,5950	A1A1,A1R,RR		2.3462,2.2406,2.3103	,,,,	,,,,		288,12178				SO:0001651	inframe_deletion	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140056884_140056886delGAG		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1780_1782delGAG	9.37:g.140056893_140056895delGAG	ENSP00000360616:p.Glu598del					GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR	p.E598del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	13	2877_2879	+	all_cancers(76;0.0926)		598					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	In_Frame_Del	DEL	ENST00000371561.3	37	c.1780_1782delGAG	CCDS7031.1																																																																																				0.739	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		8	53						8	53	---	---	---	---
RNF208	727800	broad.mit.edu	37	9	140115423	140115424	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr9:140115423_140115424insC	ENST00000392827.1	-	2	409_410	c.241_242insG	c.(241-243)gacfs	p.D81fs	RNF208_ENST00000391553.1_Frame_Shift_Ins_p.D81fs			Q9H0X6	RN208_HUMAN	ring finger protein 208	81					protein autoubiquitination (GO:0051865)		ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCAGGCATGTCCCCCCCACAG	0.688																																						ENST00000392827.1																			0				lung(1)	1						c.(241-243)catfs		ring finger protein 208																																				SO:0001589	frameshift_variant	727800						zinc ion binding	g.chr9:140115423_140115424insC	AF416715	CCDS7037.2	9q34.3	2007-01-19				ENSG00000212864		"""RING-type (C3HC4) zinc fingers"""	25420	protein-coding gene	gene with protein product						11230166	Standard	NM_031297		Approved	DKFZP761H1710	uc004clz.2	Q9H0X6		ENST00000392827.1:c.242dupG	9.37:g.140115430_140115430dupC	ENSP00000376572:p.Asp81fs					RNF208_ENST00000391553.1_Frame_Shift_Ins_p.H81fs	p.H81fs			Q9H0X6	RN208_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	2	409_410	-	all_cancers(76;0.0926)		81					A2BFA0	Frame_Shift_Ins	INS	ENST00000392827.1	37	c.241_242insG	CCDS7037.2																																																																																				0.688	RNF208-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254714.1	NM_031297		2	4						2	4	---	---	---	---
C11orf95	65998	broad.mit.edu	37	11	63531514	63531516	+	lincRNA	DEL	CTC	CTC	-			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:63531514_63531516delCTC	ENST00000433688.1	-	0	1597_1599							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95																		GCTCACCCCActcctcctcctcc	0.714																																						ENST00000433688.1																			0													chromosome 11 open reading frame 95																																						65998					intracellular	zinc ion binding	g.chr11:63531514_63531516delCTC	BC000572, AK096306		11q13	2011-11-24			ENSG00000188070	ENSG00000188070			28449	protein-coding gene	gene with protein product		615699				20607705	Standard	NM_001144936		Approved	MGC3032	uc010rmv.2	C9JLR9			11.37:g.63531523_63531525delCTC										C9JLR9	CK095_HUMAN			0	1597_1599	-								A6NLS7|Q3C1V4	RNA	DEL	ENST00000433688.1	37																																																																																						0.714	C11orf95-201	KNOWN	basic	lincRNA	lincRNA		NM_001144936		2	4						2	4	---	---	---	---
ZNF878	729747	broad.mit.edu	37	19	12155304	12155305	+	Frame_Shift_Del	DEL	TT	TT	-	rs372424657		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:12155304_12155305delTT	ENST00000547628.1	-	4	1048_1049	c.911_912delAA	c.(910-912)aaafs	p.K304fs	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000602107.1_Frame_Shift_Del_p.K351fs	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	304					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTCCAGTGTGTTTTCTTTCATG	0.416																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(1051-1053)afs		zinc finger protein 878																																				SO:0001589	frameshift_variant	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155304_12155305delTT		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.911_912delAA	19.37:g.12155306_12155307delTT	ENSP00000447931:p.Lys304fs					CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Del_p.K304fs	p.K351fs			C9JN71	ZN878_HUMAN			5	1051_1052	-			304						Frame_Shift_Del	DEL	ENST00000547628.1	37	c.1052_1053delAA	CCDS45984.2																																																																																				0.416	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		9	107						9	107	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085465	11085467	+	RNA	DEL	ACT	ACT	-	rs10446208|rs373147926		TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr21:11085465_11085467delACT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccactaccactaccaccacca	0.532																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085465_11085467delACT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085465_11085467delACT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.532	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	7						4	7	---	---	---	---
