#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
CCDC150	284992	broad.mit.edu	37	2	197521710	197521710	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr2:197521710A>G	ENST00000389175.4	+	4	561	c.426A>G	c.(424-426)atA>atG	p.I142M	CCDC150_ENST00000472405.2_Missense_Mutation_p.I39M|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	142										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGAATGCAATACAGGAAGAGC	0.453																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(424-426)atA>atG		coiled-coil domain containing 150							63.0	62.0	62.0					2																	197521710		1942	4137	6079	SO:0001583	missense	284992							g.chr2:197521710A>G		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.426A>G	2.37:g.197521710A>G	ENSP00000373827:p.Ile142Met					CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Missense_Mutation_p.I39M|CCDC150_ENST00000423093.2_Intron	p.I142M	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			4	561	+			142					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.426A>G	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.376387	0.24857	.	.	ENSG00000144395	ENST00000389175;ENST00000536389;ENST00000472405	T;T	0.29655	1.56;1.56	4.45	0.399	0.16325	.	0.276325	0.29587	N	0.011731	T	0.40670	0.1126	M	0.63428	1.95	0.80722	D	1	D;P	0.59767	0.986;0.899	P;P	0.62560	0.904;0.667	T	0.16129	-1.0413	10	0.45353	T	0.12	-7.629	5.0018	0.14268	0.3763:0.3166:0.0:0.3071	.	142;142	Q8NCX0;F5H6M2	CC150_HUMAN;.	M	142;142;39	ENSP00000373827:I142M;ENSP00000441149:I39M	ENSP00000373827:I142M	I	+	3	3	CCDC150	197229955	0.006000	0.16342	0.951000	0.38953	0.337000	0.28794	-1.242000	0.02908	-0.008000	0.14320	-0.316000	0.08728	ATA		0.453	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		7	14	0	0	0	1	0	7	14				
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		5	184	0	0	0	1	0	5	184				
MOGAT1	116255	broad.mit.edu	37	2	223559867	223559867	+	Missense_Mutation	SNP	A	A	G	rs185619677		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr2:223559867A>G	ENST00000446656.3	+	5	713	c.713A>G	c.(712-714)aAc>aGc	p.N238S	snoU13_ENST00000459212.1_RNA	NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	238					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CAAACTGACAACCCTGAAGGA	0.423													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18274	0.0		0.0	False		,,,				2504	0.0				Ovarian(93;205 1446 2385 11581 25911)	ENST00000446656.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9						c.(712-714)aAc>aGc		monoacylglycerol O-acyltransferase 1		A	SER/ASN	1,3673		0,1,1836	100.0	92.0	94.0		713	0.9	0.0	2		94	0,8174		0,0,4087	no	missense	MOGAT1	NM_058165.2	46	0,1,5923	GG,GA,AA		0.0,0.0272,0.0084	probably-damaging	238/336	223559867	1,11847	1837	4087	5924	SO:0001583	missense	116255				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr2:223559867A>G	AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"""diacylglycerol O-acyltransferase 2 like 1"""	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.713A>G	2.37:g.223559867A>G	ENSP00000406674:p.Asn238Ser						p.N238S	NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	5	713	+		Renal(207;0.0183)	238					Q6IEE5	Missense_Mutation	SNP	ENST00000446656.3	37	c.713A>G	CCDS46524.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	10.69	1.420810	0.25639	2.72E-4	0.0	ENSG00000124003	ENST00000446656	T	0.15139	2.45	4.84	0.86	0.19042	.	0.299915	0.31809	N	0.007034	T	0.24431	0.0592	M	0.73598	2.24	0.43014	D	0.994559	P	0.38395	0.629	P	0.45232	0.474	T	0.06320	-1.0833	10	0.17832	T	0.49	-14.3876	12.3882	0.55345	0.593:0.4069:0.0:0.0	.	238	Q96PD6	MOGT1_HUMAN	S	238	ENSP00000406674:N238S	ENSP00000406674:N238S	N	+	2	0	MOGAT1	223268111	1.000000	0.71417	0.030000	0.17652	0.014000	0.08584	6.685000	0.74543	-0.004000	0.14419	0.450000	0.29827	AAC		0.423	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3	NM_058165		7	24	0	0	0	1	0	7	24				
MYZAP	100820829	broad.mit.edu	37	15	57910316	57910316	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr15:57910316A>T	ENST00000267853.5	+	3	342	c.248A>T	c.(247-249)cAg>cTg	p.Q83L	GCOM1_ENST00000380569.2_Missense_Mutation_p.Q83L|GCOM1_ENST00000572390.1_Missense_Mutation_p.Q83L|GCOM1_ENST00000380560.2_Missense_Mutation_p.Q83L|GCOM1_ENST00000380568.3_Missense_Mutation_p.Q83L|GCOM1_ENST00000574161.1_Missense_Mutation_p.Q83L|MYZAP_ENST00000380565.4_Missense_Mutation_p.Q83L|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380561.2_Missense_Mutation_p.Q83L|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q83L|GCOM1_ENST00000396180.1_Missense_Mutation_p.Q83L			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	83					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											GATCAAAATCAGCAGAAAGAA	0.448																																						ENST00000574161.1																			0				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						c.(247-249)cAg>cTg									203.0	190.0	194.0					15																	57910316		2192	4292	6484	SO:0001583	missense	0				intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		g.chr15:57910316A>T	FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.248A>T	15.37:g.57910316A>T	ENSP00000267853:p.Gln83Leu					GCOM1_ENST00000572390.1_Missense_Mutation_p.Q83L|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q83L|GCOM1_ENST00000380568.3_Missense_Mutation_p.Q83L|GCOM1_ENST00000380561.2_Missense_Mutation_p.Q83L|MYZAP_ENST00000267853.5_Missense_Mutation_p.Q83L|MYZAP_ENST00000380565.4_Missense_Mutation_p.Q83L|GCOM1_ENST00000396180.1_Missense_Mutation_p.Q83L|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.Q83L|GCOM1_ENST00000380560.2_Missense_Mutation_p.Q83L	p.Q83L	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN			3	367	+			83					D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	c.248A>T	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.180482	0.78677	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.25579	1.85;1.79;1.81;1.8;1.84;1.85;1.84	6.17	6.17	0.99709	.	0.257505	0.43416	D	0.000580	T	0.25754	0.0627	L	0.50333	1.59	0.80722	D	1	P;P;P;B	0.40834	0.73;0.515;0.515;0.21	B;B;B;B	0.35688	0.208;0.208;0.208;0.208	T	0.02184	-1.1199	10	0.45353	T	0.12	-21.5303	15.8048	0.78491	1.0:0.0:0.0:0.0	.	83;83;83;83	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	L	83	ENSP00000369943:Q83L;ENSP00000369935:Q83L;ENSP00000379483:Q83L;ENSP00000369933:Q83L;ENSP00000267853:Q83L;ENSP00000369939:Q83L;ENSP00000369942:Q83L	ENSP00000267853:Q83L	Q	+	2	0	GCOM1	55697608	1.000000	0.71417	0.994000	0.49952	0.903000	0.53119	5.144000	0.64832	2.371000	0.80710	0.533000	0.62120	CAG		0.448	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100		16	53	0	0	0	1	0	16	53				
MYH3	4621	broad.mit.edu	37	17	10549033	10549033	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr17:10549033C>T	ENST00000583535.1	-	12	1219	c.1132G>A	c.(1132-1134)Ggc>Agc	p.G378S	MYH3_ENST00000226209.7_Missense_Mutation_p.G378S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	378	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTTCTGTGCCATCCGGCTCG	0.527																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1132-1134)Ggc>Agc		myosin, heavy chain 3, skeletal muscle, embryonic							108.0	94.0	99.0					17																	10549033		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10549033C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1132G>A	17.37:g.10549033C>T	ENSP00000464317:p.Gly378Ser					MYH3_ENST00000226209.7_Missense_Mutation_p.G378S	p.G378S	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			12	1219	-			378			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1132G>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013035	0.75161	.	.	ENSG00000109063	ENST00000226209	T	0.70516	-0.49	4.94	4.94	0.65067	Myosin head, motor domain (2);	.	.	.	.	T	0.77644	0.4161	L	0.56124	1.755	0.54753	D	0.999988	P	0.39665	0.682	P	0.50405	0.64	T	0.79042	-0.1965	9	0.66056	D	0.02	.	18.7175	0.91680	0.0:1.0:0.0:0.0	.	378	P11055	MYH3_HUMAN	S	378	ENSP00000226209:G378S	ENSP00000226209:G378S	G	-	1	0	MYH3	10489758	1.000000	0.71417	0.961000	0.40146	0.017000	0.09413	7.609000	0.82925	2.728000	0.93425	0.655000	0.94253	GGC		0.527	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		9	53	0	0	0	1	0	9	53				
PBRM1	55193	broad.mit.edu	37	3	52682417	52682417	+	Silent	SNP	T	T	G			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:52682417T>G	ENST00000296302.7	-	7	757	c.756A>C	c.(754-756)atA>atC	p.I252I	PBRM1_ENST00000410007.1_Silent_p.I252I|PBRM1_ENST00000394830.3_Silent_p.I252I|PBRM1_ENST00000356770.4_Silent_p.I252I|PBRM1_ENST00000337303.4_Silent_p.I252I|PBRM1_ENST00000409114.3_Silent_p.I252I|PBRM1_ENST00000409057.1_Silent_p.I252I|PBRM1_ENST00000409767.1_Silent_p.I252I			Q86U86	PB1_HUMAN	polybromo 1	252	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D251fs*31(3)|p.M248fs*9(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CGAGGAGATCTATATCTTTGG	0.338			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		5	Deletion - Frameshift(5)	p.D251fs*31(3)|p.M248fs*9(2)	kidney(5)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(754-756)atA>atC		polybromo 1							192.0	184.0	186.0					3																	52682417		2203	4300	6503	SO:0001819	synonymous_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52682417T>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.756A>C	3.37:g.52682417T>G						PBRM1_ENST00000409057.1_Silent_p.I252I|PBRM1_ENST00000410007.1_Silent_p.I252I|PBRM1_ENST00000409767.1_Silent_p.I252I|PBRM1_ENST00000409114.3_Silent_p.I252I|PBRM1_ENST00000394830.3_Silent_p.I252I|PBRM1_ENST00000337303.4_Silent_p.I252I|PBRM1_ENST00000296302.7_Silent_p.I252I	p.I252I			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	7	758	-			252			Bromo 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Silent	SNP	ENST00000296302.7	37	c.756A>C																																																																																					0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		5	65	0	0	0	1	0	5	65				
ABCD2	225	broad.mit.edu	37	12	40010812	40010812	+	Silent	SNP	A	A	C			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr12:40010812A>C	ENST00000308666.3	-	2	1233	c.1098T>G	c.(1096-1098)acT>acG	p.T366T		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	366	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGCCAGTTGCAGTGATAATAG	0.338																																						ENST00000308666.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						c.(1096-1098)acT>acG		ATP-binding cassette, sub-family D (ALD), member 2							151.0	128.0	136.0					12																	40010812		2203	4300	6503	SO:0001819	synonymous_variant	225				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	g.chr12:40010812A>C	U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1098T>G	12.37:g.40010812A>C							p.T366T	NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN			2	1233	-			366			ABC transmembrane type-1.		B2RAM3|Q13210|Q2M3H9	Silent	SNP	ENST00000308666.3	37	c.1098T>G	CCDS8734.1																																																																																				0.338	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403591.1	NM_005164		11	95	0	0	0	1	0	11	95				
CYSLTR1	10800	broad.mit.edu	37	X	77528836	77528836	+	Silent	SNP	T	T	G			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chrX:77528836T>G	ENST00000373304.3	-	3	700	c.408A>C	c.(406-408)acA>acC	p.T136T		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	136					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CTTTTTTCTGTGTAACCAAAT	0.363																																						ENST00000373304.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14						c.(406-408)acA>acC		cysteinyl leukotriene receptor 1	Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)						65.0	58.0	60.0					X																	77528836		2202	4299	6501	SO:0001819	synonymous_variant	0				elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	g.chrX:77528836T>G	AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.408A>C	X.37:g.77528836T>G							p.T136T	NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN			3	700	-			136					B2R954|D3DTE4|Q5JS94|Q8IV19	Silent	SNP	ENST00000373304.3	37	c.408A>C	CCDS14439.1																																																																																				0.363	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057315.1			14	13	0	0	0	1	0	14	13				
BEST2	54831	broad.mit.edu	37	19	12864107	12864107	+	Silent	SNP	C	C	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr19:12864107C>T	ENST00000549706.1	+	3	510	c.186C>T	c.(184-186)ttC>ttT	p.F62F	BEST2_ENST00000042931.1_Silent_p.F62F|BEST2_ENST00000553030.1_Silent_p.F62F			Q8NFU1	BEST2_HUMAN	bestrophin 2	62					chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						AGCGCTACTTCGAGAAGCTTG	0.557																																						ENST00000549706.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						c.(184-186)ttC>ttT		bestrophin 2							184.0	174.0	177.0					19																	12864107		2073	4193	6266	SO:0001819	synonymous_variant	54831				membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity	g.chr19:12864107C>T	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.186C>T	19.37:g.12864107C>T						BEST2_ENST00000042931.1_Silent_p.F62F|BEST2_ENST00000553030.1_Silent_p.F62F	p.F62F			Q8NFU1	BEST2_HUMAN			3	510	+			62					Q53YQ8|Q9NXP0	Silent	SNP	ENST00000549706.1	37	c.186C>T	CCDS42506.1																																																																																				0.557	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682		9	94	0	0	0	1	0	9	94				
CCDC146	57639	broad.mit.edu	37	7	76888375	76888375	+	Missense_Mutation	SNP	C	C	T	rs141122498		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr7:76888375C>T	ENST00000285871.4	+	7	875	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	250										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAAATAACACGCAAAAAAGT	0.348													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17090	0.0		0.0	False		,,,				2504	0.0					ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(748-750)Cgc>Tgc		coiled-coil domain containing 146		C	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	68.0	62.0	64.0		748	5.7	1.0	7	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CCDC146	NM_020879.2	180	0,8,6495	TT,TC,CC		0.0233,0.1362,0.0615	probably-damaging	250/956	76888375	8,12998	2203	4300	6503	SO:0001583	missense	57639							g.chr7:76888375C>T	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.748C>T	7.37:g.76888375C>T	ENSP00000285871:p.Arg250Cys					CCDC146_ENST00000431197.1_5'UTR	p.R250C	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			7	875	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	250					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.748C>T	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289647	0.80914	0.001362	2.33E-4	ENSG00000135205	ENST00000285871	T	0.27104	1.69	5.71	5.71	0.89125	.	0.343351	0.32081	N	0.006616	T	0.40522	0.1120	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.14254	-1.0479	10	0.66056	D	0.02	-7.9233	16.7742	0.85546	0.0:1.0:0.0:0.0	.	250	Q8IYE0	CC146_HUMAN	C	250	ENSP00000285871:R250C	ENSP00000285871:R250C	R	+	1	0	AC007000.1	76726311	0.997000	0.39634	0.997000	0.53966	0.957000	0.61999	4.696000	0.61774	2.685000	0.91497	0.563000	0.77884	CGC		0.348	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		8	35	0	0	0	1	0	8	35				
TRMT44	152992	broad.mit.edu	37	4	8467104	8467104	+	Splice_Site	SNP	G	G	A			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr4:8467104G>A	ENST00000389737.4	+	8	1310		c.e8-1		TRMT44_ENST00000513449.2_Splice_Site	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)						tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										TCTTTTTGAAGGTCTTCCTAC	0.488																																						ENST00000389737.4																			0											c.e8-1		tRNA methyltransferase 44 homolog (S. cerevisiae)							306.0	266.0	279.0					4																	8467104		2203	4300	6503	SO:0001630	splice_region_variant	152992							g.chr4:8467104G>A	AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1311-1G>A	4.37:g.8467104G>A						TRMT44_ENST00000513449.2_Splice_Site		NM_152544.2	NP_689757.2					8	1310	+								Q8NA95	Splice_Site	SNP	ENST00000389737.4	37		CCDS3402.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844432	0.51164	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9736	0.89120	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	METTL19	8518004	1.000000	0.71417	0.997000	0.53966	0.348000	0.29142	6.450000	0.73477	2.462000	0.83206	0.650000	0.86243	.		0.488	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359197.2	NM_152544	Intron	12	97	0	0	0	1	0	12	97				
POLR2C	5432	broad.mit.edu	37	16	57496641	57496641	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr16:57496641C>T	ENST00000219252.5	+	1	343	c.5C>T	c.(4-6)cCg>cTg	p.P2L	POLR2C_ENST00000564651.1_3'UTR|AC009052.12_ENST00000567090.1_RNA	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	2					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GGCGAGATGCCGTACGCCAAC	0.652											OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000219252.5																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(4-6)cCg>cTg		polymerase (RNA) II (DNA directed) polypeptide C, 33kDa							27.0	21.0	23.0					16																	57496641		2194	4298	6492	SO:0001583	missense	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr16:57496641C>T		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.5C>T	16.37:g.57496641C>T	ENSP00000219252:p.Pro2Leu		OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1023	POLR2C_ENST00000564651.1_3'UTR|AC009052.12_ENST00000567090.1_RNA	p.P2L	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN			1	343	+			2					O15161	Missense_Mutation	SNP	ENST00000219252.5	37	c.5C>T	CCDS10782.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468006	0.96257	.	.	ENSG00000102978	ENST00000219252	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.85292	0.5663	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89059	0.3461	9	0.87932	D	0	.	16.5086	0.84278	0.0:1.0:0.0:0.0	.	2;2	B7Z377;P19387	.;RPB3_HUMAN	L	2	.	ENSP00000219252:P2L	P	+	2	0	POLR2C	56054142	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.144000	0.77357	2.364000	0.80123	0.555000	0.69702	CCG		0.652	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		3	3	0	0	0	1	0	3	3				
OPCML	4978	broad.mit.edu	37	11	132307147	132307147	+	Silent	SNP	G	G	A			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr11:132307147G>A	ENST00000331898.7	-	4	1211	c.633C>T	c.(631-633)ccC>ccT	p.P211P	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.P211P|OPCML_ENST00000524381.1_Silent_p.P204P|OPCML_ENST00000374778.4_Silent_p.P170P	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	211	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TCCGCACATCGGGCGCAGCGA	0.537																																						ENST00000331898.7																			0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(631-633)ccC>ccT		opioid binding protein/cell adhesion molecule-like							129.0	114.0	119.0					11																	132307147		2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307147G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.633C>T	11.37:g.132307147G>A						OPCML_ENST00000541867.1_Silent_p.P211P|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.P170P|OPCML_ENST00000524381.1_Silent_p.P204P	p.P211P	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	1211	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	211			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.633C>T	CCDS8492.1																																																																																				0.537	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393		4	69	0	0	0	1	0	4	69				
SPATA31A6	389730	broad.mit.edu	37	9	43627707	43627707	+	Missense_Mutation	SNP	A	A	G	rs200754251		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr9:43627707A>G	ENST00000332857.6	-	4	1008	c.980T>C	c.(979-981)gTc>gCc	p.V327A	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	327					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TATCCCCACGACATTCTGGCC	0.458																																						ENST00000332857.6																			0											c.(979-981)gTc>gCc		SPATA31 subfamily A, member 6																																				SO:0001583	missense	389730							g.chr9:43627707A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.980T>C	9.37:g.43627707A>G	ENSP00000329825:p.Val327Ala						p.V327A	NM_001145196.1	NP_001138668.1					4	1008	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.980T>C	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	A	5.178	0.218349	0.09810	.	.	ENSG00000185775	ENST00000332857	T	0.03689	3.84	1.91	0.742	0.18341	.	1.139540	0.06749	N	0.779725	T	0.04003	0.0112	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45411	-0.9263	10	0.41790	T	0.15	0.2104	3.755	0.08582	0.7999:0.0:0.2001:0.0	.	327	Q5VVP1	F75A6_HUMAN	A	327	ENSP00000329825:V327A	ENSP00000329825:V327A	V	-	2	0	FAM75A6	43567703	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	0.203000	0.20529	0.369000	0.22263	GTC		0.458	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		8	262	0	0	0	1	0	8	262				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			0							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			4	7	1	0	1	1	1	4	7				
GZMH	2999	broad.mit.edu	37	14	25076563	25076563	+	Missense_Mutation	SNP	G	G	C			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr14:25076563G>C	ENST00000216338.4	-	4	433	c.389C>G	c.(388-390)cCt>cGt	p.P130R	GZMH_ENST00000557220.2_Intron|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Intron	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	130	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		CTTGCTGCTAGGTAGCCTGAG	0.582																																						ENST00000216338.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12						c.(388-390)cCt>cGt		granzyme H (cathepsin G-like 2, protein h-CCPX)							59.0	56.0	57.0					14																	25076563		2203	4300	6503	SO:0001583	missense	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25076563G>C	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.389C>G	14.37:g.25076563G>C	ENSP00000216338:p.Pro130Arg					RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron	p.P130R	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	4	433	-			130			Peptidase S1.		G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	ENST00000216338.4	37	c.389C>G	CCDS9632.1	.	.	.	.	.	.	.	.	.	.	g	14.24	2.476251	0.44044	.	.	ENSG00000100450	ENST00000216338	D	0.95137	-3.62	4.74	2.83	0.33086	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.96996	0.9019	M	0.90870	3.155	0.19300	N	0.999977	D	0.60160	0.987	P	0.62740	0.906	D	0.90855	0.4734	9	0.72032	D	0.01	.	8.2289	0.31587	0.0:0.1727:0.6482:0.179	.	130	P20718	GRAH_HUMAN	R	130	ENSP00000216338:P130R	ENSP00000216338:P130R	P	-	2	0	GZMH	24146403	0.909000	0.30893	0.016000	0.15963	0.001000	0.01503	1.879000	0.39618	0.637000	0.30526	0.655000	0.94253	CCT		0.582	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		6	42	0	0	0	1	0	6	42				
USP48	84196	broad.mit.edu	37	1	22048218	22048218	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr1:22048218C>T	ENST00000308271.9	-	13	2336	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H	USP48_ENST00000374732.3_Missense_Mutation_p.R102H|USP48_ENST00000529637.1_Missense_Mutation_p.R562H|USP48_ENST00000400301.1_Missense_Mutation_p.R563H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	563					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)	p.R563H(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ACGCAATATGCGACAACGTTC	0.363																																						ENST00000308271.9																			1	Substitution - Missense(1)	p.R563H(1)	endometrium(1)	NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(1687-1689)cGc>cAc		ubiquitin specific peptidase 48							87.0	85.0	86.0					1																	22048218		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22048218C>T	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.1688G>A	1.37:g.22048218C>T	ENSP00000309262:p.Arg563His					USP48_ENST00000374732.3_Missense_Mutation_p.R102H|USP48_ENST00000400301.1_Missense_Mutation_p.R563H|USP48_ENST00000529637.1_Missense_Mutation_p.R562H	p.R563H	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	13	2336	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	563					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.1688G>A	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590410	0.86851	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.998;0.976	D;P;D;D;P;P	0.80764	0.994;0.793;0.931;0.967;0.854;0.565	T	0.63519	-0.6619	10	0.62326	D	0.03	.	18.3262	0.90255	0.0:1.0:0.0:0.0	.	562;563;563;563;563;102	B7ZKS7;B7ZKS3;Q86UV5-3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;.;UBP48_HUMAN;.	H	563;563;102;562	ENSP00000383157:R563H;ENSP00000309262:R563H;ENSP00000363864:R102H;ENSP00000431949:R562H	ENSP00000309262:R563H	R	-	2	0	USP48	21920805	1.000000	0.71417	0.922000	0.36590	0.697000	0.40408	6.899000	0.75682	2.585000	0.87301	0.650000	0.86243	CGC		0.363	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		6	57	0	0	0	1	0	6	57				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		5	152	0	0	0	1	0	5	152				
ADAM21P1	145241	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	byFrequency	TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CACCACTTCCAGGGAAGTGAA	0.527													G|||	786	0.156949	0.1505	0.085	5008	,	,		20010	0.2907		0.1262	False		,,,				2504	0.1104					ENST00000530196.1																			0																																																			0							g.chr14:70714259A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714259A>G								NR_003951.1						0	259	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.527	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		4	88	0	0	0	1	0	4	88				
COL7A1	1294	broad.mit.edu	37	3	48629869	48629869	+	Silent	SNP	C	C	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:48629869C>T	ENST00000328333.8	-	8	1115	c.1008G>A	c.(1006-1008)caG>caA	p.Q336Q	COL7A1_ENST00000454817.1_Silent_p.Q336Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	336	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGTGGTATTCTGGATGGTCA	0.627																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(1006-1008)caG>caA		collagen, type VII, alpha 1							38.0	40.0	40.0					3																	48629869		2203	4300	6503	SO:0001819	synonymous_variant	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629869C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1008G>A	3.37:g.48629869C>T						COL7A1_ENST00000454817.1_Silent_p.Q336Q	p.Q336Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1115	-			336			Fibronectin type-III 2.|Nonhelical region (NC1).		Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	c.1008G>A	CCDS2773.1																																																																																				0.627	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		9	23	0	0	0	1	0	9	23				
NEIL1	79661	broad.mit.edu	37	15	75644728	75644728	+	Splice_Site	SNP	G	G	A	rs376582145		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr15:75644728G>A	ENST00000564784.1	+	5	1247	c.618G>A	c.(616-618)ccG>ccA	p.P206P	NEIL1_ENST00000567959.1_3'UTR|RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000355059.4_Splice_Site_p.P206P|NEIL1_ENST00000569035.1_Splice_Site_p.P206P|MIR631_ENST00000384904.1_RNA			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	206					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGCACAGGCCGGTAAGCCCAG	0.642								Base excision repair (BER), DNA glycosylases					G|||	1	0.000199681	0.0	0.0	5008	,	,		19883	0.0		0.0	False		,,,				2504	0.001					ENST00000564784.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						c.e5+1	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 1 (E. coli)		G		0,4394		0,0,2197	52.0	54.0	53.0		618	5.7	1.0	15		53	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous-near-splice	NEIL1	NM_024608.2		0,1,6490	AA,AG,GG		0.0116,0.0,0.0077		206/391	75644728	1,12981	2197	4294	6491	SO:0001630	splice_region_variant	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75644728G>A	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.618+1G>A	15.37:g.75644728G>A						NEIL1_ENST00000569035.1_Splice_Site_p.P206_splice|NEIL1_ENST00000355059.4_Splice_Site_p.P206_splice|NEIL1_ENST00000567959.1_3'UTR	p.P206_splice			Q96FI4	NEIL1_HUMAN			5	1247	+			206					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Splice_Site	SNP	ENST00000564784.1	37	c.618_splice	CCDS10278.1																																																																																				0.642	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608	Silent	3	43	0	0	0	1	0	3	43				
ALS2CL	259173	broad.mit.edu	37	3	46718435	46718435	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:46718435G>A	ENST00000318962.4	-	17	1918	c.1835C>T	c.(1834-1836)gCt>gTt	p.A612V	ALS2CL_ENST00000415953.1_Missense_Mutation_p.A612V|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	612					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGGGCAGCCAGCACACACAAA	0.662																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1834-1836)gCt>gTt		ALS2 C-terminal like							56.0	67.0	63.0					3																	46718435		2203	4299	6502	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46718435G>A	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1835C>T	3.37:g.46718435G>A	ENSP00000313670:p.Ala612Val					ALS2CL_ENST00000383742.3_5'UTR|ALS2CL_ENST00000415953.1_Missense_Mutation_p.A612V	p.A612V	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	17	1918	-			612					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.1835C>T	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	G	8.182	0.794102	0.16327	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.55930	0.49;0.49	4.65	2.78	0.32641	.	0.342057	0.24398	N	0.038877	T	0.38401	0.1039	L	0.44542	1.39	0.20638	N	0.999878	B	0.31680	0.335	B	0.28139	0.086	T	0.19877	-1.0292	10	0.37606	T	0.19	.	6.4243	0.21760	0.1002:0.0:0.7176:0.1822	.	612	Q60I27	AL2CL_HUMAN	V	612	ENSP00000313670:A612V;ENSP00000413223:A612V	ENSP00000313670:A612V	A	-	2	0	ALS2CL	46693439	0.720000	0.27996	0.008000	0.14137	0.500000	0.33767	2.934000	0.48956	0.535000	0.28714	0.561000	0.74099	GCT		0.662	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		10	56	0	0	0	1	0	10	56				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	67	1	0	1.23904e-05	1	1.29804e-05	4	67				
TIE1	7075	broad.mit.edu	37	1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(2653-2655)gCg>gTg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							165.0	180.0	175.0					1																	43783268		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783268C>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2654C>T	1.37:g.43783268C>T	ENSP00000361554:p.Ala885Val					TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR	p.A885V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			16	2733	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	885			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2654C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120241	0.77323	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.82167	-1.58;-1.58	5.66	5.66	0.87406	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.39985	N	0.001216	T	0.67562	0.2906	L	0.28115	0.83	0.80722	D	1	D;P;D	0.58268	0.982;0.908;0.982	B;B;B	0.32928	0.155;0.055;0.155	T	0.72357	-0.4318	10	0.02654	T	1	.	19.7383	0.96217	0.0:1.0:0.0:0.0	.	840;530;885	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	V	885;288;168;530	ENSP00000361554:A885V;ENSP00000411728:A530V	ENSP00000361553:A288V	A	+	2	0	TIE1	43555855	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.818000	0.86416	2.675000	0.91044	0.655000	0.94253	GCG		0.502	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		6	201	0	0	0	1	0	6	201				
GPR158	57512	broad.mit.edu	37	10	25887055	25887055	+	Silent	SNP	C	C	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr10:25887055C>T	ENST00000376351.3	+	11	2859	c.2500C>T	c.(2500-2502)Cta>Tta	p.L834L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	834					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GTCCAGTAGCCTACCCACAGA	0.468																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2500-2502)Cta>Tta		G protein-coupled receptor 158							122.0	132.0	128.0					10																	25887055		2203	4300	6503	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887055C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2500C>T	10.37:g.25887055C>T						GPR158_ENST00000490549.1_3'UTR	p.L834L	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2859	+			834					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.2500C>T	CCDS31166.1																																																																																				0.468	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		4	61	0	0	0	1	0	4	61				
BOD1L1	259282	broad.mit.edu	37	4	13606319	13606319	+	Silent	SNP	C	C	T	rs201716332		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr4:13606319C>T	ENST00000040738.5	-	10	2340	c.2205G>A	c.(2203-2205)tcG>tcA	p.S735S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	735	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S735S(1)									ATTTGTCTTCCGATGGAGTTT	0.363																																						ENST00000040738.5																			1	Substitution - coding silent(1)	p.S735S(1)	large_intestine(1)								c.(2203-2205)tcG>tcA		biorientation of chromosomes in cell division 1-like 1		T		0,4404		0,0,2202	82.0	79.0	80.0		2205	-4.1	0.1	4		80	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BOD1L	NM_148894.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		735/3052	13606319	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13606319C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2205G>A	4.37:g.13606319C>T							p.S735S	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	2340	-			735			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.2205G>A	CCDS3411.2																																																																																				0.363	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		8	43	0	0	0	1	0	8	43				
NBN	4683	broad.mit.edu	37	8	90955507	90955507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr8:90955507C>A	ENST00000265433.3	-	14	2312	c.2158G>T	c.(2158-2160)Gaa>Taa	p.E720*	NBN_ENST00000409330.1_Nonsense_Mutation_p.E638*	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	720					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AGCCACTCTTCTAGTTCTGTA	0.418								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(2158-2160)Gaa>Taa	Homologous recombination	nibrin							169.0	152.0	158.0					8																	90955507		2203	4300	6503	SO:0001587	stop_gained	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90955507C>A	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.2158G>T	8.37:g.90955507C>A	ENSP00000265433:p.Glu720*					NBN_ENST00000409330.1_Nonsense_Mutation_p.E638*	p.E720*	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		14	2312	-			720					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Nonsense_Mutation	SNP	ENST00000265433.3	37	c.2158G>T	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	C	39	7.790501	0.98492	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	.	.	.	5.77	5.77	0.91146	.	0.185489	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-25.3506	19.5987	0.95551	0.0:1.0:0.0:0.0	.	.	.	.	X	720;638	.	ENSP00000265433:E720X	E	-	1	0	NBN	91024683	1.000000	0.71417	0.995000	0.50966	0.927000	0.56198	4.851000	0.62896	2.717000	0.92951	0.650000	0.86243	GAA		0.418	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		14	53	1	0	2.32078e-09	1	2.61832e-09	14	53				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		5	26	0	0	0	1	0	5	26				
DFFA	1676	broad.mit.edu	37	1	10523512	10523512	+	Missense_Mutation	SNP	C	C	T	rs200565656		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr1:10523512C>T	ENST00000377038.3	-	4	674	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	DFFA_ENST00000377036.2_Missense_Mutation_p.G203S	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	203					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AAGAGGCTGCCCTCTTTCTCC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		18281	0.0		0.001	False		,,,				2504	0.0					ENST00000377038.3																			0				large_intestine(3)|lung(2)	5						c.(607-609)Ggc>Agc		DNA fragmentation factor, 45kDa, alpha polypeptide							62.0	62.0	62.0					1																	10523512		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523512C>T	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.607G>A	1.37:g.10523512C>T	ENSP00000366237:p.Gly203Ser					DFFA_ENST00000377036.2_Missense_Mutation_p.G203S	p.G203S	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	4	674	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	203					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.607G>A	CCDS118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	22.5	4.295057	0.81025	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.01	4.1	0.47936	DNA fragmentation factor 45kDa, C-terminal (2);	0.403093	0.30293	N	0.009942	T	0.65428	0.2690	M	0.64997	1.995	0.39666	D	0.97068	P;D	0.56746	0.897;0.977	P;P	0.54889	0.518;0.763	T	0.69665	-0.5084	9	0.62326	D	0.03	-24.5801	11.6847	0.51479	0.0:0.9171:0.0:0.0829	.	203;203	O00273-2;O00273	.;DFFA_HUMAN	S	203	.	ENSP00000366235:G203S	G	-	1	0	DFFA	10446099	0.945000	0.32115	0.958000	0.39756	0.971000	0.66376	2.147000	0.42226	1.104000	0.41587	0.650000	0.86243	GGC		0.557	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		15	59	0	0	0	1	0	15	59				
KRT16P1	729252	broad.mit.edu	37	17	18343741	18343741	+	RNA	SNP	G	G	A			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr17:18343741G>A	ENST00000581027.1	+	0	346									keratin 16 pseudogene 1																		ACCTGGAAGTGAAGATCCGTG	0.587																																						ENST00000580052.1																			0																																																			0							g.chr17:18343741G>A			17p11.2	2012-08-13	2010-02-25	2010-02-25	ENSG00000214856	ENSG00000214856			6420	pseudogene	pseudogene			"""keratin 14 pseudogene"""	KRT14P			Standard	NR_073414		Approved		uc010vya.2		OTTHUMG00000059249		17.37:g.18343741G>A						KRT16P1_ENST00000581027.1_RNA								0	43	+									RNA	SNP	ENST00000581027.1	37																																																																																						0.587	KRT16P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446576.1	NG_007001		3	42	0	0	0	1	0	3	42				
TRANK1	9881	broad.mit.edu	37	3	36873537	36873537	+	Nonsense_Mutation	SNP	T	T	A			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:36873537T>A	ENST00000429976.2	-	21	7652	c.7405A>T	c.(7405-7407)Aag>Tag	p.K2469*	TRANK1_ENST00000301807.6_Nonsense_Mutation_p.K1919*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.K1919*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2469							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTCACGTCCTTGGGTTTGTAT	0.483																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(5755-5757)Aag>Tag		tetratricopeptide repeat and ankyrin repeat containing 1							113.0	113.0	113.0					3																	36873537		2001	4178	6179	SO:0001587	stop_gained	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873537T>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7405A>T	3.37:g.36873537T>A	ENSP00000416168:p.Lys2469*					TRANK1_ENST00000429976.2_Nonsense_Mutation_p.K2469*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.K1919*	p.K1919*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	7652	-			2469					Q8N8K0	Nonsense_Mutation	SNP	ENST00000429976.2	37	c.5755A>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	46	12.161652	0.99642	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	.	.	.	4.9	4.9	0.64082	.	0.000000	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.4318	0.27132	0.0:0.0769:0.1446:0.7785	.	.	.	.	X	1919;2469;1919	.	ENSP00000301807:K1919X	K	-	1	0	TRANK1	36848541	0.981000	0.34729	0.665000	0.29768	0.843000	0.47879	1.890000	0.39728	1.964000	0.57103	0.459000	0.35465	AAG		0.483	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		18	41	0	0	0	1	0	18	41				
SMARCC1	6599	broad.mit.edu	37	3	47663719	47663719	+	Missense_Mutation	SNP	A	A	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:47663719A>T	ENST00000254480.5	-	25	2878	c.2759T>A	c.(2758-2760)aTc>aAc	p.I920N	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	920					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein N-terminus binding (GO:0047485)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTGTCCATGATAGTTTCCAG	0.353																																						ENST00000254480.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2758-2760)aTc>aAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1							171.0	173.0	172.0					3																	47663719		2203	4300	6503	SO:0001583	missense	6599				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	g.chr3:47663719A>T	U66615	CCDS2758.1	3p21.31	2008-05-15			ENSG00000173473	ENSG00000173473			11104	protein-coding gene	gene with protein product		601732				8804307	Standard	NM_003074		Approved	BAF155, SRG3, Rsc8, CRACC1	uc003crq.2	Q92922	OTTHUMG00000133519	ENST00000254480.5:c.2759T>A	3.37:g.47663719A>T	ENSP00000254480:p.Ile920Asn					SMARCC1_ENST00000425518.1_5'UTR	p.I920N	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	25	2878	-			920					Q17RS0|Q6P172|Q8IWH2	Missense_Mutation	SNP	ENST00000254480.5	37	c.2759T>A	CCDS2758.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743085	0.89663	.	.	ENSG00000173473	ENST00000254480	T	0.23950	1.88	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.78344	2.41	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.58020	-0.7710	10	0.87932	D	0	-15.5273	15.448	0.75248	1.0:0.0:0.0:0.0	.	920	Q92922	SMRC1_HUMAN	N	920	ENSP00000254480:I920N	ENSP00000254480:I920N	I	-	2	0	SMARCC1	47638723	1.000000	0.71417	0.994000	0.49952	0.999000	0.98932	9.339000	0.96797	2.240000	0.73641	0.533000	0.62120	ATC		0.353	SMARCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257491.1			28	82	0	0	0	1	0	28	82				
GRIA1	2890	broad.mit.edu	37	5	153056637	153056637	+	Silent	SNP	T	T	G			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr5:153056637T>G	ENST00000285900.5	+	7	1288	c.945T>G	c.(943-945)tcT>tcG	p.S315S	GRIA1_ENST00000340592.5_Silent_p.S315S|GRIA1_ENST00000521843.2_Silent_p.S246S|GRIA1_ENST00000518783.1_Silent_p.S325S|GRIA1_ENST00000518142.1_Silent_p.S235S|GRIA1_ENST00000448073.4_Silent_p.S325S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	315					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TTGATATATCTCGCCGGGGGA	0.567																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(943-945)tcT>tcG		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						72.0	67.0	69.0					5																	153056637		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153056637T>G		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.945T>G	5.37:g.153056637T>G						GRIA1_ENST00000518783.1_Silent_p.S325S|GRIA1_ENST00000518142.1_Silent_p.S235S|GRIA1_ENST00000340592.5_Silent_p.S315S|GRIA1_ENST00000448073.4_Silent_p.S325S|GRIA1_ENST00000521843.2_Silent_p.S246S	p.S315S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1288	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	315					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.945T>G	CCDS4322.1																																																																																				0.567	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			4	19	0	0	0	1	0	4	19				
FMO1	2326	broad.mit.edu	37	1	171250040	171250040	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr1:171250040C>T	ENST00000354841.4	+	5	874	c.743C>T	c.(742-744)cCa>cTa	p.P248L	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.P248L|FMO1_ENST00000402921.2_Missense_Mutation_p.P185L	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	248					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AATTCCCTCCCAACCCCAATT	0.463																																						ENST00000354841.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(742-744)cCa>cTa		flavin containing monooxygenase 1							107.0	99.0	102.0					1																	171250040		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171250040C>T	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.743C>T	1.37:g.171250040C>T	ENSP00000346901:p.Pro248Leu					FMO1_ENST00000367750.3_Missense_Mutation_p.P248L|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.P185L	p.P248L			Q01740	FMO1_HUMAN			5	874	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		248					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.743C>T	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136929	0.77775	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.59224	0.28;0.28;0.28	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.84088	0.5395	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.88316	0.2959	10	0.66056	D	0.02	-10.527	19.3997	0.94623	0.0:1.0:0.0:0.0	.	185;248;248	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	L	248;185;248	ENSP00000356724:P248L;ENSP00000385543:P185L;ENSP00000346901:P248L	ENSP00000346901:P248L	P	+	2	0	FMO1	169516664	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	3.554000	0.53720	2.871000	0.98454	0.655000	0.94253	CCA		0.463	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		5	67	0	0	0	1	0	5	67				
OTOF	9381	broad.mit.edu	37	2	26705329	26705329	+	Silent	SNP	C	C	A			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr2:26705329C>A	ENST00000272371.2	-	14	1650	c.1524G>T	c.(1522-1524)gtG>gtT	p.V508V	OTOF_ENST00000403946.3_Silent_p.V508V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	508	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCGATGGCCACGTCGTTGA	0.587																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(1522-1524)gtG>gtT		otoferlin							108.0	99.0	102.0					2																	26705329		2203	4299	6502	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26705329C>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1524G>T	2.37:g.26705329C>A						OTOF_ENST00000403946.3_Silent_p.V508V	p.V508V	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			14	1650	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		508			C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.1524G>T	CCDS1725.1																																																																																				0.587	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			5	105	1	0	1.024e-07	1	1.1264e-07	5	105				
ATP13A5	344905	broad.mit.edu	37	3	193080381	193080381	+	Missense_Mutation	SNP	G	G	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:193080381G>T	ENST00000342358.4	-	4	547	c.430C>A	c.(430-432)Ctg>Atg	p.L144M		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	144						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CGCTTCTCCAGGTCGTTCCAA	0.448																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(430-432)Ctg>Atg		ATPase type 13A5							168.0	161.0	163.0					3																	193080381		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193080381G>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.430C>A	3.37:g.193080381G>T	ENSP00000341942:p.Leu144Met						p.L144M	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	4	547	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		144					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.430C>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560538	0.45590	.	.	ENSG00000187527	ENST00000342358	T	0.31510	1.49	5.6	-3.68	0.04463	.	0.723006	0.12402	N	0.472013	T	0.28333	0.0700	M	0.63428	1.95	0.21020	N	0.999809	P	0.37158	0.585	B	0.43990	0.438	T	0.28933	-1.0028	10	0.45353	T	0.12	-1.0493	2.0496	0.03567	0.3323:0.3371:0.2203:0.1103	.	144	Q4VNC0	AT135_HUMAN	M	144	ENSP00000341942:L144M	ENSP00000341942:L144M	L	-	1	2	ATP13A5	194563075	0.000000	0.05858	0.933000	0.37362	0.857000	0.48899	-0.070000	0.11523	-0.368000	0.08040	-0.768000	0.03414	CTG		0.448	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		27	132	1	0	1.42536e-11	1	1.65041e-11	27	132				
LRPAP1	4043	broad.mit.edu	37	4	3526676	3526676	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr4:3526676C>T	ENST00000500728.2	-	2	453	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	103					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		TCCCCATCTTCGTCCAAGCCG	0.517																																						ENST00000500728.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(307-309)Gaa>Aaa		low density lipoprotein receptor-related protein associated protein 1							332.0	339.0	336.0					4																	3526676		2203	4300	6503	SO:0001583	missense	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3526676C>T		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.307G>A	4.37:g.3526676C>T	ENSP00000421922:p.Glu103Lys					LRPAP1_ENST00000296325.5_5'UTR	p.E103K	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	2	453	-			103					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.307G>A	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.045829	0.00398	.	.	ENSG00000163956	ENST00000500728	T	0.40476	1.03	4.18	0.111	0.14619	Alpha-2-macroglobulin receptor-associated protein, domain 1 (3);	0.636126	0.16262	N	0.222183	T	0.20536	0.0494	N	0.13272	0.32	0.09310	N	1	B	0.13594	0.008	B	0.15870	0.014	T	0.27297	-1.0078	10	0.12766	T	0.61	-4.8153	8.1079	0.30896	0.0:0.5991:0.241:0.1599	.	103	P30533	AMRP_HUMAN	K	103	ENSP00000421922:E103K	ENSP00000421922:E103K	E	-	1	0	LRPAP1	3496474	0.009000	0.17119	0.000000	0.03702	0.007000	0.05969	0.925000	0.28791	-0.374000	0.07967	-0.797000	0.03246	GAA		0.517	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			50	324	0	0	0	1	0	50	324				
POLQ	10721	broad.mit.edu	37	3	121228543	121228543	+	Silent	SNP	C	C	A			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr3:121228543C>A	ENST00000264233.5	-	12	1952	c.1824G>T	c.(1822-1824)gtG>gtT	p.V608V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	608					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGGATGATACACCTTTCCTG	0.393								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1822-1824)gtG>gtT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							105.0	114.0	111.0					3																	121228543		2202	4300	6502	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121228543C>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.1824G>T	3.37:g.121228543C>A							p.V608V	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	12	1952	-			608					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.1824G>T	CCDS33833.1																																																																																				0.393	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		14	63	1	0	1.3612e-06	1	1.4608e-06	14	63				
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000357680.4_Silent_p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711																																						ENST00000300131.3																			3	Substitution - coding silent(3)	p.P211P(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(631-633)ccT>ccC		NGFI-A binding protein 2 (EGR1 binding protein 2)																																				SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485457T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.633T>C	12.37:g.57485457T>C						NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR	p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	1011	+			211					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.633T>C	CCDS8930.1																																																																																				0.711	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		5	24	0	0	0	1	0	5	24				
CYP2A7	1549	broad.mit.edu	37	19	41387540	41387540	+	Missense_Mutation	SNP	G	G	T	rs112051160	byFrequency	TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr19:41387540G>T	ENST00000301146.4	-	2	838	c.297C>A	c.(295-297)agC>agA	p.S99R	CYP2A7_ENST00000291764.3_Intron|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	99						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGCCTCGCCCGCTGAACTCCT	0.642																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(295-297)agC>agA		cytochrome P450, family 2, subfamily A, polypeptide 7							62.0	55.0	57.0					19																	41387540		2203	4296	6499	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41387540G>T	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.297C>A	19.37:g.41387540G>T	ENSP00000301146:p.Ser99Arg					CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron	p.S99R	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	838	-			99					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.297C>A	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636860	0.29157	.	.	ENSG00000198077	ENST00000301146	T	0.70869	-0.52	2.18	-0.223	0.13118	.	0.500500	0.20985	U	0.082141	T	0.82162	0.4977	M	0.89030	3	0.20403	N	0.999901	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71520	-0.4568	10	0.87932	D	0	.	6.0043	0.19537	0.7356:0.0:0.2644:0.0	.	99;99	B7ZKR0;P20853	.;CP2A7_HUMAN	R	99	ENSP00000301146:S99R	ENSP00000301146:S99R	S	-	3	2	CYP2A7	46079380	0.000000	0.05858	0.788000	0.31933	0.443000	0.32047	-1.368000	0.02580	-0.272000	0.09259	0.184000	0.17185	AGC		0.642	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		3	33	1	0	1	1	1	3	33				
TTLL8	164714	broad.mit.edu	37	22	50488626	50488626	+	Silent	SNP	A	A	C			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr22:50488626A>C	ENST00000266182.6	-	2	101	c.102T>G	c.(100-102)gcT>gcG	p.A34A	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Silent_p.A34A			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	70					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCCTTCGCAGAGCGGCCCGGA	0.483																																						ENST00000266182.6																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12						c.(100-102)gcT>gcG		tubulin tyrosine ligase-like family, member 8							34.0	36.0	35.0					22																	50488626		1938	4127	6065	SO:0001819	synonymous_variant	164714							g.chr22:50488626A>C			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.102T>G	22.37:g.50488626A>C						TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Silent_p.A34A	p.A34A						READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)	2	101	-		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)						B5MDV0	Silent	SNP	ENST00000266182.6	37	c.102T>G																																																																																					0.483	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001080447		5	14	0	0	0	1	0	5	14				
PTPN21	11099	broad.mit.edu	37	14	89016642	89016642	+	Silent	SNP	G	G	A			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr14:89016642G>A	ENST00000556564.1	-	2	404	c.120C>T	c.(118-120)tcC>tcT	p.S40S	RP11-507K2.3_ENST00000556328.1_RNA|PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.S40S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	40	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCTCTCCACGGACAGGGTGA	0.612																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(118-120)tcC>tcT		protein tyrosine phosphatase, non-receptor type 21							110.0	107.0	108.0					14																	89016642		2203	4300	6503	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:89016642G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.120C>T	14.37:g.89016642G>A						PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.S40S	p.S40S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			2	404	-			40			FERM.			Silent	SNP	ENST00000556564.1	37	c.120C>T	CCDS9884.1																																																																																				0.612	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			8	62	0	0	0	1	0	8	62				
ATP1A3	478	broad.mit.edu	37	19	42471428	42471428	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr19:42471428T>C	ENST00000302102.5	-	22	3136	c.2986A>G	c.(2986-2988)Aaa>Gaa	p.K996E	ATP1A3_ENST00000543770.1_Missense_Mutation_p.K1007E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K966E|ATP1A3_ENST00000545399.1_Missense_Mutation_p.K1009E	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	996					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGGATGAGTTTGCGGATTTCG	0.662																																						ENST00000545399.1																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						c.(3025-3027)Aaa>Gaa		ATPase, Na+/K+ transporting, alpha 3 polypeptide							40.0	40.0	40.0					19																	42471428		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42471428T>C		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.2986A>G	19.37:g.42471428T>C	ENSP00000302397:p.Lys996Glu					ATP1A3_ENST00000302102.5_Missense_Mutation_p.K996E|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K1007E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K966E	p.K1009E	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			22	3178	-			996					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.3025A>G	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.305777	0.81247	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	3.32	3.32	0.38043	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97604	0.9215	H	0.98048	4.135	0.58432	D	0.999999	P;D;D;D	0.71674	0.651;0.992;0.998;0.993	P;D;D;D	0.77004	0.704;0.962;0.989;0.978	D	0.97429	1.0014	10	0.87932	D	0	.	9.9597	0.41688	0.0:0.0:0.0:1.0	.	1009;1007;996;996	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	E	996;996;1009;966;1007	ENSP00000302397:K996E;ENSP00000411503:K996E;ENSP00000444688:K1009E;ENSP00000437577:K1007E	ENSP00000302397:K996E	K	-	1	0	ATP1A3	47163268	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.747000	0.85070	1.537000	0.49254	0.379000	0.24179	AAA		0.662	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		4	24	0	0	0	1	0	4	24				
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr7:65226569delT	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		gcccggccCCttttttttttt	0.413																																						ENST00000442266.1																			0																																																			0							g.chr7:65226569delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226569delT														0	1167	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.413	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		2	4						2	4	---	---	---	---
LOC100128993	100128993	broad.mit.edu	37	8	19043038	19043038	+	lincRNA	DEL	C	C	-			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr8:19043038delC	ENST00000518417.1	-	0	278																											gaggcaccagccggagattag	0.507																																						ENST00000518417.1																			0																																																			0							g.chr8:19043038delC																													8.37:g.19043038delC														0	278	-									RNA	DEL	ENST00000518417.1	37																																																																																						0.507	RP11-1080G15.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000374891.1			2	4						2	4	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77775449	77775451	+	In_Frame_Del	DEL	CCT	CCT	-	rs199874527		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr8:77775449_77775451delCCT	ENST00000521891.2	+	11	9947_9949	c.9499_9501delCCT	c.(9499-9501)cctdel	p.P3173del	ZFHX4_ENST00000518282.1_In_Frame_Del_p.P3147del|ZFHX4_ENST00000455469.2_In_Frame_Del_p.P3128del|ZFHX4_ENST00000050961.6_In_Frame_Del_p.P3124del	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3124					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P3151H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			acctccaccacctcctcctcctc	0.522										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - Missense(1)	p.P3151H(1)	large_intestine(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9499-9501)del		zinc finger homeobox 4				40,3796		5,30,1883						2.2	1.0			54	74,7900		1,72,3914	no	coding	ZFHX4	NM_024721.4		6,102,5797	A1A1,A1R,RR		0.928,1.0428,0.9653				114,11696				SO:0001651	inframe_deletion	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775449_77775451delCCT		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9499_9501delCCT	8.37:g.77775458_77775460delCCT	ENSP00000430497:p.Pro3173del	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_In_Frame_Del_p.P3124del|ZFHX4_ENST00000455469.2_In_Frame_Del_p.P3128del|ZFHX4_ENST00000518282.1_In_Frame_Del_p.P3147del	p.P3173del	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	9947_9949	+			3124					G3V138|Q18PS0|Q6ZN20	In_Frame_Del	DEL	ENST00000521891.2	37	c.9499_9501delCCT	CCDS47878.2																																																																																				0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	6						3	6	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82877721	82877722	+	Frame_Shift_Ins	INS	-	-	A	rs374073017		TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr11:82877721_82877722insA	ENST00000298281.4	+	5	2234_2235	c.1782_1783insA	c.(1783-1785)aaafs	p.K595fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	595					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAGTCTGCCAAAAGATGGAA	0.356																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1780-1785)gcaaagfs		PCF11 cleavage and polyadenylation factor subunit																																				SO:0001589	frameshift_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877721_82877722insA	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1786dupA	11.37:g.82877725_82877725dupA	ENSP00000298281:p.Lys595fs						p.AK594fs	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	2234_2235	+			594					A6H8W7|O43671|Q6P0X8	Frame_Shift_Ins	INS	ENST00000298281.4	37	c.1782_1783insA	CCDS44689.1																																																																																				0.356	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		13	55						13	55	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25330470	25330471	+	RNA	INS	-	-	T			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr15:25330470_25330471insT	ENST00000546682.1	+	0	453				SNORD116-18_ENST00000383961.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-17_ENST00000383929.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNORD116-19_ENST00000384729.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCTTAGGATGGTAAGTGTCCAT	0.48																																						ENST00000546682.1																			0																																																			0							g.chr15:25330470_25330471insT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25330471_25330471dupT						SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA		NR_003361.1						0	453	+									RNA	INS	ENST00000546682.1	37																																																																																						0.480	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1			16	62						16	62	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25465467	25465469	+	RNA	DEL	GAA	GAA	-	rs139379892|rs375695430	byFrequency	TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr15:25465467_25465469delGAA	ENST00000424208.1	+	0	3039				SNHG14_ENST00000453082.2_RNA|SNORD115-29_ENST00000362834.1_RNA|SNHG14_ENST00000365067.1_RNA|SNORD115-28_ENST00000363931.1_RNA|SNORD115-27_ENST00000364430.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGGTGAGACCGAAGAAGACTTGC	0.581														920	0.183706	0.0197	0.2651	5008	,	,		19755	0.0724		0.4324	False		,,,				2504	0.2065					ENST00000424208.1																			0																																																			0							g.chr15:25465467_25465469delGAA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25465470_25465472delGAA						SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	3039	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.581	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			4	6						4	6	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821850	72821850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr16:72821850delG	ENST00000268489.5	-	10	10997	c.10325delC	c.(10324-10326)ccafs	p.P3442fs	RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2528fs|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3442					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCTGCTTCTGGCTCTTCAGG	0.562																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10324-10326)cafs		zinc finger homeobox 3							80.0	85.0	84.0					16																	72821850		2198	4300	6498	SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821850delG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10325delC	16.37:g.72821850delG	ENSP00000268489:p.Pro3442fs					ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2528fs	p.P3442fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10997	-		Ovarian(137;0.13)	3442					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.10325delC	CCDS10908.1																																																																																				0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		11	61						11	61	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1360-1362)cafs		cell division cycle 27							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			11	1454	-			454					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1361delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			8	58						8	58	---	---	---	---
GNAL	2774	broad.mit.edu	37	18	11689860	11689860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr18:11689860delA	ENST00000334049.6	+	1	906	c.298delA	c.(298-300)aaafs	p.K100fs		NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	23					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|response to amphetamine (GO:0001975)|response to caffeine (GO:0031000)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGAGGCGAGGAAAGTGAGCCG	0.697																																						ENST00000334049.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						c.(298-300)aafs		guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type							6.0	6.0	6.0					18																	11689860		2059	4067	6126	SO:0001589	frameshift_variant	2774				activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr18:11689860delA	AF493893	CCDS11851.1, CCDS11852.1, CCDS58614.1	18p11.22-p11.21	2003-12-17			ENSG00000141404	ENSG00000141404			4388	protein-coding gene	gene with protein product		139312				1302014	Standard	NM_182978		Approved		uc002kqc.3	P38405	OTTHUMG00000131660	ENST00000334049.6:c.298delA	18.37:g.11689860delA	ENSP00000334051:p.Lys100fs						p.K100fs	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN			1	906	+			23					B7ZA26|Q86XU3	Frame_Shift_Del	DEL	ENST00000334049.6	37	c.298delA	CCDS11851.1																																																																																				0.697	GNAL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254560.2	NM_182978, NM_002071		2	4						2	4	---	---	---	---
CPLX4	339302	broad.mit.edu	37	18	56985545	56985545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr18:56985545delC	ENST00000299721.3	-	1	336	c.150delG	c.(148-150)aagfs	p.K50fs	CPLX4_ENST00000587244.1_Frame_Shift_Del_p.K50fs	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	50					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CAATCATTTGCTTTTGATACT	0.408																																						ENST00000299721.3																			0				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16						c.(148-150)aafs		complexin 4							232.0	210.0	218.0					18																	56985545		2203	4300	6503	SO:0001589	frameshift_variant	339302				exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	g.chr18:56985545delC	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.150delG	18.37:g.56985545delC	ENSP00000299721:p.Lys50fs					CPLX4_ENST00000587244.1_Frame_Shift_Del_p.K50fs	p.K50fs	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN			1	336	-		Colorectal(73;0.175)	50					F1T0L6	Frame_Shift_Del	DEL	ENST00000299721.3	37	c.150delG	CCDS11973.1																																																																																				0.408	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		22	135						22	135	---	---	---	---
FAM207A	85395	broad.mit.edu	37	21	46396598	46396598	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr21:46396598delG	ENST00000291634.6	+	6	621	c.573delG	c.(571-573)gagfs	p.E193fs	FAM207A_ENST00000397826.3_Frame_Shift_Del_p.E178fs|FAM207A_ENST00000479127.1_3'UTR	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A	193																	CTTTCAGCGAGGAAGAAAGGA	0.632																																						ENST00000291634.6																			0											c.(571-573)gafs		family with sequence similarity 207, member A							17.0	16.0	17.0					21																	46396598		2179	4279	6458	SO:0001589	frameshift_variant	85395							g.chr21:46396598delG		CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.573delG	21.37:g.46396598delG	ENSP00000291634:p.Glu193fs					FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Frame_Shift_Del_p.E178fs	p.E193fs	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN			6	621	+			193						Frame_Shift_Del	DEL	ENST00000291634.6	37	c.573delG	CCDS13718.1																																																																																				0.632	FAM207A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206639.1	NM_058190		2	4						2	4	---	---	---	---
LIF	3976	broad.mit.edu	37	22	30642384	30642386	+	Intron	DEL	GAG	GAG	-			TCGA-XK-AAJR-01A-11D-A41K-08	TCGA-XK-AAJR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ea55808-8cd1-4b76-b8ae-1463d5cf3587	4734b728-d63b-4669-988d-eca6c1abb0f6	g.chr22:30642384_30642386delGAG	ENST00000249075.3	-	1	175				RP1-102K2.8_ENST00000608354.1_RNA|RP1-102K2.8_ENST00000593843.1_RNA|LIF_ENST00000403987.3_Intron	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor						blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			TGTCCggagcgaggaggaggagg	0.606																																						ENST00000593843.1																			0											c.(199-204)cga>c																																						SO:0001627	intron_variant	0							g.chr22:30642384_30642386delGAG		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.19+279CTC>-	22.37:g.30642393_30642395delGAG						LIF_ENST00000249075.3_Intron|LIF_ENST00000403987.3_Intron	p.RG67del							2	200_202	+								B2RCW7|B5MC23|Q52LZ2	In_Frame_Del	DEL	ENST00000249075.3	37	c.200_202delGAG	CCDS13872.1																																																																																				0.606	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		2	4						2	4	---	---	---	---
