#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
TBC1D9	23158	broad.mit.edu	37	4	141543453	141543453	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr4:141543453G>T	ENST00000442267.2	-	21	3771	c.3697C>A	c.(3697-3699)Ccc>Acc	p.P1233T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1233							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.P1233T(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGCACACGGGCTTGTCAAAG	0.592																																						ENST00000442267.2																			2	Substitution - Missense(2)	p.P1233T(2)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(3697-3699)Ccc>Acc		TBC1 domain family, member 9 (with GRAM domain)							58.0	61.0	60.0					4																	141543453		2054	4196	6250	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543453G>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3697C>A	4.37:g.141543453G>T	ENSP00000411197:p.Pro1233Thr						p.P1233T	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			21	3771	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1233					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3697C>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843497	0.51057	.	.	ENSG00000109436	ENST00000442267	T	0.09817	2.94	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	L	0.58810	1.83	0.80722	D	1	B	0.20780	0.048	B	0.22753	0.041	T	0.02450	-1.1157	10	0.66056	D	0.02	.	18.7997	0.92011	0.0:0.0:1.0:0.0	.	1233	Q6ZT07	TBCD9_HUMAN	T	1233	ENSP00000411197:P1233T	ENSP00000411197:P1233T	P	-	1	0	TBC1D9	141762903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.843000	0.99491	2.430000	0.82344	0.655000	0.94253	CCC		0.592	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		9	53	1	0	0.00448238	0.047766	0.00510783	9	53				
SLC4A3	6508	broad.mit.edu	37	2	220502444	220502444	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:220502444G>A	ENST00000358055.3	+	17	3189	c.2677G>A	c.(2677-2679)Gca>Aca	p.A893T	SLC4A3_ENST00000317151.3_Missense_Mutation_p.A893T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A893T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A920T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A920T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	893	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.A920T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCAATACGGCACTGCTCTC	0.657																																						ENST00000358055.3																			1	Substitution - Missense(1)	p.A920T(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2677-2679)Gca>Aca		solute carrier family 4 (anion exchanger), member 3							86.0	66.0	72.0					2																	220502444		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502444G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2677G>A	2.37:g.220502444G>A	ENSP00000350756:p.Ala893Thr					SLC4A3_ENST00000273063.6_Missense_Mutation_p.A920T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A893T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A920T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A893T	p.A893T			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	3189	+		Renal(207;0.0183)	893			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2677G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811494	0.90707	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	4.7	4.7	0.59300	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.79343	2.45	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.97110	0.944;0.999;1.0	D	0.91097	0.4911	10	0.87932	D	0	.	18.258	0.90025	0.0:0.0:1.0:0.0	.	597;893;920	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	T	893;893;920;920;153;893	ENSP00000350756:A893T;ENSP00000362865:A893T;ENSP00000273063:A920T;ENSP00000362867:A920T;ENSP00000314006:A893T	ENSP00000273063:A920T	A	+	1	0	SLC4A3	220210688	1.000000	0.71417	0.778000	0.31720	0.469000	0.32828	7.564000	0.82326	2.611000	0.88343	0.551000	0.68910	GCA		0.657	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		3	56	0	0	0	0.150653	0	3	56				
OC90	729330	broad.mit.edu	37	8	133053386	133053386	+	Missense_Mutation	SNP	C	C	T	rs202030846		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr8:133053386C>T	ENST00000443356.2	-	6	448	c.362G>A	c.(361-363)cGc>cAc	p.R121H	OC90_ENST00000254627.3_Missense_Mutation_p.R121H|OC90_ENST00000603859.1_Missense_Mutation_p.R121H|OC90_ENST00000262283.5_Missense_Mutation_p.R317H			Q02509	OC90_HUMAN	otoconin 90	121	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.R317H(1)|p.R127H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ATAGCACCTGCGGTGCTGGAA	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17211	0.0		0.001	False		,,,				2504	0.0					ENST00000262283.5																			2	Substitution - Missense(2)	p.R317H(1)|p.R127H(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(949-951)cGc>cAc		otoconin 90		C	HIS/ARG	2,3942		0,2,1970	82.0	83.0	83.0		362	5.6	1.0	8		83	6,8316		0,6,4155	yes	missense	OC90	NM_001080399.2	29	0,8,6125	TT,TC,CC		0.0721,0.0507,0.0652	probably-damaging	121/478	133053386	8,12258	1972	4161	6133	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053386C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.362G>A	8.37:g.133053386C>T	ENSP00000390050:p.Arg121His					OC90_ENST00000603859.1_Missense_Mutation_p.R121H|OC90_ENST00000443356.2_Missense_Mutation_p.R121H|OC90_ENST00000254627.3_Missense_Mutation_p.R121H	p.R317H			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		9	1049	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		121					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.950G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.2	4.713345	0.89112	5.07E-4	7.21E-4	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26660	1.72;1.72;1.72	5.61	5.61	0.85477	Phospholipase A2 (3);	0.075410	0.52532	D	0.000065	T	0.40297	0.1111	L	0.28014	0.82	0.37106	D	0.90011	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.31641	-0.9936	10	0.40728	T	0.16	-32.9909	18.6744	0.91524	0.0:1.0:0.0:0.0	.	121;121	Q02509-2;Q02509	.;OC90_HUMAN	H	121;121;317	ENSP00000254627:R121H;ENSP00000390050:R121H;ENSP00000262283:R317H	ENSP00000254627:R121H	R	-	2	0	RP11-240B13.2;OC90	133122568	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.457000	0.66672	2.669000	0.90835	0.585000	0.79938	CGC		0.557	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		5	94	0	0	0	0.021553	0	5	94				
LRIG3	121227	broad.mit.edu	37	12	59282122	59282122	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:59282122C>G	ENST00000320743.3	-	7	1222	c.936G>C	c.(934-936)aaG>aaC	p.K312N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	312					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K312N(2)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCTCACTGAGCTTCTGGCAGA	0.493			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	2	Substitution - Missense(2)	p.K312N(2)	prostate(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(934-936)aaG>aaC		leucine-rich repeats and immunoglobulin-like domains 3							90.0	85.0	87.0					12																	59282122		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59282122C>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.936G>C	12.37:g.59282122C>G	ENSP00000326759:p.Lys312Asn					LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N	p.K312N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		7	1222	-			312					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.936G>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189165	0.38707	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.54479	0.57;0.57	5.76	0.592	0.17471	.	0.000000	0.39407	N	0.001379	T	0.40979	0.1139	N	0.04320	-0.23	0.54753	D	0.999987	B;D	0.89917	0.22;1.0	B;D	0.74348	0.198;0.983	T	0.30268	-0.9984	9	.	.	.	.	5.4682	0.16656	0.0:0.3235:0.1397:0.5369	.	252;312	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	N	252;312	ENSP00000368436:K252N;ENSP00000326759:K312N	.	K	-	3	2	LRIG3	57568389	0.993000	0.37304	0.998000	0.56505	0.983000	0.72400	0.259000	0.18405	-0.068000	0.12953	-0.182000	0.12963	AAG		0.493	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		8	77	0	0	0	0.038147	0	8	77				
RXFP1	59350	broad.mit.edu	37	4	159567948	159567948	+	Missense_Mutation	SNP	G	G	A	rs372722673		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr4:159567948G>A	ENST00000307765.5	+	16	1602	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	RXFP1_ENST00000470033.1_Missense_Mutation_p.D418N|RXFP1_ENST00000460056.2_Missense_Mutation_p.D370N|RXFP1_ENST00000448688.2_Missense_Mutation_p.D346N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D403N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	451					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.D451N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCTAGGTGCCGACTGCTTAAT	0.348																																						ENST00000307765.5																			1	Substitution - Missense(1)	p.D451N(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1351-1353)Gac>Aac		relaxin/insulin-like family peptide receptor 1							121.0	109.0	113.0					4																	159567948		1837	4087	5924	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159567948G>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1351G>A	4.37:g.159567948G>A	ENSP00000303248:p.Asp451Asn					RXFP1_ENST00000448688.2_Missense_Mutation_p.D346N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D403N|RXFP1_ENST00000460056.2_Missense_Mutation_p.D370N|RXFP1_ENST00000470033.1_Missense_Mutation_p.D418N	p.D451N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1602	+	all_hematologic(180;0.24)	Renal(120;0.0854)	451					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1351G>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	36	5.604650	0.96626	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95560	0.8557	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0;1.0	D	0.95159	0.8280	10	0.49607	T	0.09	.	19.7093	0.96085	0.0:0.0:1.0:0.0	.	462;478;346;403;418;370;321;451	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	N	370;451;346;403;418;321	ENSP00000423306:D370N;ENSP00000303248:D451N;ENSP00000414885:D346N;ENSP00000345889:D403N;ENSP00000420712:D418N	ENSP00000303248:D451N	D	+	1	0	RXFP1	159787398	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	9.777000	0.99008	2.645000	0.89757	0.650000	0.86243	GAC		0.348	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		9	85	0	0	0	0.058154	0	9	85				
TIE1	7075	broad.mit.edu	37	1	43783609	43783609	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:43783609C>T	ENST00000372476.3	+	17	2867	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R575W	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	930	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)	p.R930W(2)		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)				AGATTTTCTGCGGAAAAGCCG	0.527																																						ENST00000372476.3																			2	Substitution - Missense(2)	p.R930W(2)	prostate(2)	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.(2788-2790)Cgg>Tgg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							196.0	210.0	205.0					1																	43783609		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783609C>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.2788C>T	1.37:g.43783609C>T	ENSP00000361554:p.Arg930Trp					TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R575W	p.R930W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			17	2867	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	930			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2788C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623112	0.66901	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.84589	-1.87;-1.87	6.06	0.713	0.18173	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.205040	0.23809	N	0.044351	D	0.91758	0.7393	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90931	0.4790	10	0.87932	D	0	.	12.4715	0.55790	0.4527:0.4427:0.1046:0.0	.	885;575;930	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	W	930;333;213;575	ENSP00000361554:R930W;ENSP00000411728:R575W	ENSP00000361553:R333W	R	+	1	2	TIE1	43556196	0.995000	0.38212	0.492000	0.27490	0.873000	0.50193	2.601000	0.46249	-0.106000	0.12110	0.655000	0.94253	CGG		0.527	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		28	298	0	0	0	0.134883	0	28	298				
ADAM28	10863	broad.mit.edu	37	8	24199261	24199261	+	Silent	SNP	C	C	T	rs149263503	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr8:24199261C>T	ENST00000265769.4	+	16	1931	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	607	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G607G(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTAAGTGTGGCGATAACAAGG	0.408																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			2	Substitution - coding silent(2)	p.G607G(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1819-1821)ggC>ggT		ADAM metallopeptidase domain 28		T		4,4402	8.1+/-20.4	0,4,2199	176.0	170.0	172.0		1821	-11.3	0.0	8	dbSNP_134	172	0,8600		0,0,4300	no	coding-synonymous	ADAM28	NM_014265.4		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		607/776	24199261	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199261C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1821C>T	8.37:g.24199261C>T						RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	p.G607G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1931	+		Prostate(55;0.0959)	607			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1821C>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	c	3.672	-0.067409	0.07273	9.08E-4	0.0	ENSG00000042980	ENST00000521629;ENST00000518326	.	.	.	5.83	-11.3	0.00108	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3085	0.00284	0.2618:0.1589:0.238:0.3413	.	.	.	.	X	240;33	.	.	R	+	1	2	ADAM28	24255206	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.125000	0.03257	-2.063000	0.00890	-1.885000	0.00541	CGA		0.408	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		5	89	0	0	0	0.184627	0	5	89				
ZFC3H1	196441	broad.mit.edu	37	12	72036214	72036214	+	Splice_Site	SNP	A	A	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:72036214A>C	ENST00000378743.3	-	6	1986		c.e6+1		SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGGCTCATACCTGGAGAAC	0.343																																						ENST00000378743.3																			1	Unknown(1)	p.?(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.e6+1		zinc finger, C3H1-type containing							149.0	135.0	139.0					12																	72036214		1844	4097	5941	SO:0001630	splice_region_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72036214A>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1627+1T>G	12.37:g.72036214A>C								NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			6	1986	-								Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Splice_Site	SNP	ENST00000378743.3	37		CCDS41813.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237221	0.79800	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5877	0.76499	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFC3H1	70322481	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.281000	0.89905	2.099000	0.63709	0.454000	0.30748	.		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	Intron	7	68	0	0	0	0.029380	0	7	68				
NTM	50863	broad.mit.edu	37	11	132081914	132081914	+	Splice_Site	SNP	A	A	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr11:132081914A>C	ENST00000374786.1	+	3	879		c.e3-1		NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000427481.2_Splice_Site	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.?(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTGTTTCCACAGTATCTCCCA	0.383																																						ENST00000374786.1																			2	Unknown(2)	p.?(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.e3-1		neurotrimin							59.0	60.0	60.0					11																	132081914		2201	4297	6498	SO:0001630	splice_region_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132081914A>C	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.401-1A>C	11.37:g.132081914A>C						NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site		NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			3	879	+								A0MTT2|Q6UXJ3|Q86VJ9	Splice_Site	SNP	ENST00000374786.1	37		CCDS8491.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954948	0.73902	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTM	131587124	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.420000	0.90256	2.371000	0.80710	0.533000	0.62120	.		0.383	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	Intron	4	35	0	0	0	0.150653	0	4	35				
TTLL5	23093	broad.mit.edu	37	14	76224211	76224211	+	Intron	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr14:76224211C>T	ENST00000298832.9	+	18	1755				TTLL5_ENST00000556893.1_Splice_Site_p.R68*|TTLL5_ENST00000554510.1_Splice_Site_p.R26*|TTLL5_ENST00000557636.1_Intron|TTLL5_ENST00000555422.1_Intron	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGGAAGAACACGGTAATTGAC	0.383																																						ENST00000556893.1																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.e4+1		tubulin tyrosine ligase-like family, member 5							81.0	77.0	78.0					14																	76224211		876	1991	2867	SO:0001627	intron_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76224211C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1550+4913C>T	14.37:g.76224211C>T						TTLL5_ENST00000554510.1_Splice_Site_p.R26_splice|TTLL5_ENST00000557636.1_Intron|TTLL5_ENST00000298832.9_Intron|TTLL5_ENST00000555422.1_Intron	p.R68_splice			Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	4	272	+			517			TTL.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Splice_Site	SNP	ENST00000298832.9	37	c.203_splice	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721983	0.96839	.	.	ENSG00000119685	ENST00000393826;ENST00000556893;ENST00000554510	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2281	0.65873	0.0:1.0:0.0:0.0	.	.	.	.	X	68;68;26	.	ENSP00000377412:R68X	R	+	1	2	TTLL5	75293964	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.834000	0.55798	2.749000	0.94314	0.549000	0.68633	CGA		0.383	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		3	53	0	0	0	0.115264	0	3	53				
TTC30A	92104	broad.mit.edu	37	2	178483090	178483090	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:178483090G>A	ENST00000355689.5	-	1	604	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	114					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.R114W(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGGAGGACCCGGCTGTGGTAG	0.642																																						ENST00000355689.4																			1	Substitution - Missense(1)	p.R114W(1)	prostate(1)	autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(340-342)Cgg>Tgg		tetratricopeptide repeat domain 30A							44.0	49.0	47.0					2																	178483090		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178483090G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.340C>T	2.37:g.178483090G>A	ENSP00000347915:p.Arg114Trp					AC073834.3_ENST00000357045.4_RNA	p.R114W	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	604	-			114					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.340C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680386	0.68042	.	.	ENSG00000197557	ENST00000355689	T	0.78595	-1.19	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.235555	0.44483	D	0.000455	T	0.79335	0.4428	L	0.55990	1.75	0.43230	D	0.995123	D	0.67145	0.996	P	0.49528	0.614	T	0.81304	-0.0993	10	0.87932	D	0	.	14.4504	0.67382	0.0:0.0:0.8533:0.1467	.	114	Q86WT1	TT30A_HUMAN	W	114	ENSP00000347915:R114W	ENSP00000347915:R114W	R	-	1	2	TTC30A	178191336	0.997000	0.39634	0.990000	0.47175	0.986000	0.74619	3.232000	0.51302	2.868000	0.98415	0.555000	0.69702	CGG		0.642	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		10	71	0	0	0	0.058154	0	10	71				
DNAH17	8632	broad.mit.edu	37	17	76459153	76459153	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:76459153C>T	ENST00000585328.1	-	57	9056	c.8932G>A	c.(8932-8934)Gtc>Atc	p.V2978I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.V2969I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2969	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2978I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGGCCTTGACTTCCCACTAC	0.562																																						ENST00000389840.5																			1	Substitution - Missense(1)	p.V2978I(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8905-8907)Gtc>Atc		dynein, axonemal, heavy chain 17							108.0	83.0	91.0					17																	76459153		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76459153C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8932G>A	17.37:g.76459153C>T	ENSP00000465516:p.Val2978Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.V2978I|DNAH17_ENST00000586052.1_5'UTR	p.V2969I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		57	9029	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8905G>A		.	.	.	.	.	.	.	.	.	.	C	14.99	2.698846	0.48307	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.46451	0.87	4.91	4.91	0.64330	.	.	.	.	.	T	0.34571	0.0902	N	0.16130	0.375	0.42825	D	0.994008	.	.	.	.	.	.	T	0.11842	-1.0571	7	0.15952	T	0.53	.	17.6869	0.88258	0.0:1.0:0.0:0.0	.	.	.	.	I	2978;2969	ENSP00000374490:V2969I	ENSP00000300671:V2978I	V	-	1	0	DNAH17	73970748	1.000000	0.71417	0.979000	0.43373	0.780000	0.44128	5.676000	0.68131	2.277000	0.76020	0.555000	0.69702	GTC		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	27	0	0	0	0.150653	0	3	27				
PLEKHA5	54477	broad.mit.edu	37	12	19511256	19511256	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:19511256A>G	ENST00000299275.6	+	21	2741	c.2735A>G	c.(2734-2736)cAt>cGt	p.H912R	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.H970R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	912					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.H912R(2)|p.H1073R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATAAGAAGACATCAACAAGCG	0.433																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			3	Substitution - Missense(3)	p.H912R(2)|p.H1073R(1)	prostate(3)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2908-2910)cAt>cGt		pleckstrin homology domain containing, family A member 5							109.0	91.0	97.0					12																	19511256		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19511256A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2735A>G	12.37:g.19511256A>G	ENSP00000299275:p.His912Arg					PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.H912R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R	p.H970R	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			23	2913	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		912	P -> S (in Ref. 6; BAA91742).				A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2909A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044801	0.36085	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.52057	2.24;1.95;2.16;2.2;2.06;1.74;1.95;2.19;2.19;2.27;0.68	5.36	4.2	0.49525	.	0.150024	0.64402	D	0.000016	T	0.44265	0.1285	L	0.58810	1.83	0.39025	D	0.95982	B;B;B;B;B;B;B;B	0.23249	0.01;0.008;0.024;0.007;0.082;0.009;0.005;0.016	B;B;B;B;B;B;B;B	0.25140	0.013;0.023;0.014;0.005;0.058;0.006;0.01;0.033	T	0.49021	-0.8982	10	0.48119	T	0.1	-23.6537	11.4842	0.50344	0.9203:0.0:0.0797:0.0	.	975;894;901;1073;856;1078;912;970	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	R	975;970;856;1074;1078;912;670;970;901;894;867;193	ENSP00000325155:H975R;ENSP00000347560:H970R;ENSP00000352104:H856R;ENSP00000404296:H1078R;ENSP00000299275:H912R;ENSP00000440611:H670R;ENSP00000439673:H970R;ENSP00000400411:H901R;ENSP00000439837:H894R;ENSP00000440371:H867R;ENSP00000443553:H193R	ENSP00000299275:H912R	H	+	2	0	PLEKHA5	19402523	1.000000	0.71417	0.814000	0.32528	0.777000	0.43975	4.775000	0.62346	2.263000	0.75096	0.451000	0.29950	CAT		0.433	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		4	36	0	0	0	0.150653	0	4	36				
ABCF3	55324	broad.mit.edu	37	3	183908945	183908945	+	Missense_Mutation	SNP	A	A	C	rs140615216		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr3:183908945A>C	ENST00000429586.2	+	16	1656	c.1471A>C	c.(1471-1473)Att>Ctt	p.I491L	ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	491					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I491L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCGCCGCCAATTCTGCAGCT	0.557																																						ENST00000429586.2																			1	Substitution - Missense(1)	p.I491L(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1471-1473)Att>Ctt		ATP-binding cassette, sub-family F (GCN20), member 3							160.0	150.0	153.0					3																	183908945		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183908945A>C	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1471A>C	3.37:g.183908945A>C	ENSP00000411471:p.Ile491Leu					ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L|EIF2B5_ENST00000444495.1_Intron	p.I491L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	1656	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		491					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1471A>C	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.386190	0.42308	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.91521	-2.86;-2.86	5.74	0.507	0.16967	.	0.165681	0.52532	D	0.000065	T	0.78104	0.4231	N	0.11106	0.095	0.49299	D	0.999778	B;B	0.11235	0.004;0.001	B;B	0.15870	0.014;0.002	T	0.65274	-0.6208	10	0.30078	T	0.28	-7.5428	9.5878	0.39528	0.7082:0.0:0.2918:0.0	.	485;491	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	L	491;485	ENSP00000411471:I491L;ENSP00000292808:I485L	ENSP00000292808:I485L	I	+	1	0	ABCF3	185391639	0.566000	0.26618	0.131000	0.22000	0.996000	0.88848	1.404000	0.34623	0.364000	0.24374	0.533000	0.62120	ATT		0.557	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		8	119	0	0	0	0.047766	0	8	119				
USH1G	124590	broad.mit.edu	37	17	72915904	72915904	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:72915904G>A	ENST00000319642.1	-	2	1209	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	343					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)	p.R343W(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCCGACCCCGCGGCGCTCCC	0.687																																						ENST00000319642.1																		HN1/USH1G(2)	1	Substitution - Missense(1)	p.R343W(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(1027-1029)Cgg>Tgg		Usher syndrome 1G (autosomal recessive)							37.0	46.0	43.0					17																	72915904		2201	4293	6494	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915904G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1027C>T	17.37:g.72915904G>A	ENSP00000320076:p.Arg343Trp						p.R343W	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	1209	-	all_lung(278;0.172)|Lung NSC(278;0.207)		343					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.1027C>T	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424552	0.43020	.	.	ENSG00000182040	ENST00000319642	T	0.71341	-0.56	4.34	3.36	0.38483	.	0.353403	0.29900	N	0.010915	T	0.64929	0.2643	L	0.32530	0.975	0.45194	D	0.998209	D	0.69078	0.997	P	0.47299	0.543	T	0.69468	-0.5137	10	0.72032	D	0.01	-21.4193	13.7601	0.62961	0.0:0.0:0.8452:0.1548	.	343	Q495M9	USH1G_HUMAN	W	343	ENSP00000320076:R343W	ENSP00000320076:R343W	R	-	1	2	USH1G	70427499	1.000000	0.71417	0.930000	0.37139	0.300000	0.27592	4.464000	0.60134	1.061000	0.40601	-0.276000	0.10085	CGG		0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		4	84	0	0	0	0.184627	0	4	84				
ZNF678	339500	broad.mit.edu	37	1	227842075	227842075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:227842075C>T	ENST00000343776.5	+	4	469	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	ZNF678_ENST00000608949.1_Nonsense_Mutation_p.Q42*|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97*	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q42*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTTGCCAGAGCAGGATATGAA	0.333																																						ENST00000343776.4																			1	Substitution - Nonsense(1)	p.Q42*(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(124-126)Cag>Tag		zinc finger protein 678							96.0	105.0	102.0					1																	227842075		2202	4299	6501	SO:0001587	stop_gained	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842075C>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.124C>T	1.37:g.227842075C>T	ENSP00000344828:p.Gln42*					ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97*	p.Q42*			F5GXA7	F5GXA7_HUMAN			4	469	+		Prostate(94;0.0885)	97					Q8IVQ9	Nonsense_Mutation	SNP	ENST00000343776.5	37	c.124C>T		.	.	.	.	.	.	.	.	.	.	C	8.368	0.834578	0.16820	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	.	.	.	1.5	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.0899	0.19989	0.0:0.6739:0.3261:0.0	.	.	.	.	X	42;97;97	.	ENSP00000344828:Q42X	Q	+	1	0	ZNF678	225908698	0.034000	0.19679	0.058000	0.19502	0.101000	0.19017	0.746000	0.26275	0.708000	0.31955	0.514000	0.50259	CAG		0.333	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		11	134	0	0	0	0.105934	0	11	134				
GART	2618	broad.mit.edu	37	21	34903824	34903824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr21:34903824C>A	ENST00000381831.3	-	6	831	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	GART_ENST00000381839.3_Nonsense_Mutation_p.E190*|GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Nonsense_Mutation_p.E190*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	190	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.E190*(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGAAGTTCTTCAATGACAATT	0.353																																						ENST00000381831.3																			1	Substitution - Nonsense(1)	p.E190*(1)	prostate(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(568-570)Gaa>Taa		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						143.0	144.0	144.0					21																	34903824		2203	4300	6503	SO:0001587	stop_gained	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34903824C>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.568G>T	21.37:g.34903824C>A	ENSP00000371253:p.Glu190*					GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Nonsense_Mutation_p.E190*|GART_ENST00000381839.3_Nonsense_Mutation_p.E190*	p.E190*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			6	831	-			190			ATP-grasp.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Nonsense_Mutation	SNP	ENST00000381831.3	37	c.568G>T	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	39	7.378762	0.98248	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.5951	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	190	.	ENSP00000354388:E190X	E	-	1	0	GART	33825694	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.786000	0.75094	2.890000	0.99128	0.650000	0.86243	GAA		0.353	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		16	168	1	0	5.01169e-05	0.160694	5.84698e-05	16	168				
PLA2G4F	255189	broad.mit.edu	37	15	42446634	42446634	+	Silent	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr15:42446634C>T	ENST00000382396.4	-	3	293	c.207G>A	c.(205-207)gtG>gtA	p.V69V	PLA2G4F_ENST00000397272.3_Silent_p.V69V			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	69	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.V69V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCACAGTTGCACATAGCAGT	0.597																																						ENST00000397272.3																			1	Substitution - coding silent(1)	p.V69V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(205-207)gtG>gtA		phospholipase A2, group IVF							42.0	37.0	38.0					15																	42446634		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42446634C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.207G>A	15.37:g.42446634C>T						PLA2G4F_ENST00000382396.4_Silent_p.V69V	p.V69V	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	298	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	69			C2.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.207G>A	CCDS32204.1																																																																																				0.597	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		5	32	0	0	0	0.184627	0	5	32				
CEP85L	387119	broad.mit.edu	37	6	118790443	118790443	+	Silent	SNP	T	T	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr6:118790443T>G	ENST00000368491.3	-	12	2667	c.2046A>C	c.(2044-2046)acA>acC	p.T682T	CEP85L_ENST00000368488.5_Silent_p.T685T	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	682						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T682T(1)									ATAAAGAGCATGTCTCATCTG	0.413																																						ENST00000368491.3																			1	Substitution - coding silent(1)	p.T682T(1)	prostate(1)								c.(2044-2046)acA>acC		centrosomal protein 85kDa-like							149.0	138.0	142.0					6																	118790443		1876	4123	5999	SO:0001819	synonymous_variant	387119					centrosome		g.chr6:118790443T>G	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2046A>C	6.37:g.118790443T>G						CEP85L_ENST00000368488.5_Silent_p.T685T	p.T682T	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2667	-			682					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	c.2046A>C	CCDS43498.1																																																																																				0.413	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		10	123	0	0	0	0.080935	0	10	123				
SNRNP27	11017	broad.mit.edu	37	2	70130361	70130361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:70130361C>T	ENST00000244227.3	+	5	822	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	AC019206.1_ENST00000599032.1_5'Flank|SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Intron	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	133					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.Q133*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGTCTCTCAGAAGAGGAA	0.328																																						ENST00000244227.3																			1	Substitution - Nonsense(1)	p.Q133*(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(397-399)Cag>Tag		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)							190.0	175.0	180.0					2																	70130361		2203	4300	6503	SO:0001587	stop_gained	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70130361C>T	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.397C>T	2.37:g.70130361C>T	ENSP00000244227:p.Gln133*					SNRNP27_ENST00000409116.1_Intron|SNRNP27_ENST00000488986.1_3'UTR	p.Q133*	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN			5	822	+			133					Q15410	Nonsense_Mutation	SNP	ENST00000244227.3	37	c.397C>T	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397334	0.62177	.	.	ENSG00000124380	ENST00000244227	.	.	.	4.72	4.72	0.59763	.	0.179024	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2166	0.73270	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	ENSP00000244227:Q133X	Q	+	1	0	SNRNP27	69983865	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.320000	0.59203	2.436000	0.82500	0.462000	0.41574	CAG		0.328	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		10	117	0	0	0	0.080935	0	10	117				
WT1-AS	51352	broad.mit.edu	37	11	32460593	32460593	+	RNA	SNP	T	T	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr11:32460593T>C	ENST00000395900.1	+	0	1471				WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000525436.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA									p.C56R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						ACCCCGGCGCTGTCCACTGCA	0.617																																						ENST00000395900.1																			1	Substitution - Missense(1)	p.C56R(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6															37.0	35.0	36.0					11																	32460593		2202	4299	6501			0							g.chr11:32460593T>C	BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32460593T>C						WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000525436.1_RNA		NR_023920.1						0	1471	+								Q4KMY0|Q96A27	RNA	SNP	ENST00000395900.1	37																																																																																						0.617	WT1-AS-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095437.1	NR_023920		3	54	0	0	0	0.150653	0	3	54				
PEG10	23089	broad.mit.edu	37	7	94293246	94293246	+	Silent	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr7:94293246C>T	ENST00000482108.1	+	2	857	c.378C>T	c.(376-378)acC>acT	p.T126T	PEG10_ENST00000488574.1_Silent_p.T126T	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	126	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T126T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGATGACCGGCCGTGCTG	0.532																																						ENST00000482108.1																			1	Substitution - coding silent(1)	p.T126T(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(376-378)acC>acT		paternally expressed 10							80.0	85.0	83.0					7																	94293246		2046	4196	6242	SO:0001819	synonymous_variant	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293246C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.378C>T	7.37:g.94293246C>T						PEG10_ENST00000488574.1_Silent_p.T126T	p.T126T	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	857	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		126			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Silent	SNP	ENST00000482108.1	37	c.378C>T	CCDS55126.1																																																																																				0.532	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		7	99	0	0	0	0.038147	0	7	99				
CHD4	1108	broad.mit.edu	37	12	6686950	6686950	+	Splice_Site	SNP	C	C	T	rs529117126		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:6686950C>T	ENST00000357008.2	-	37	5525		c.e37+1		RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000309577.6_Splice_Site	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.?(3)		central_nervous_system(2)	2						CAACCGCTCACCTTAAACCTT	0.463																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Unknown(3)	p.?(3)	prostate(3)	central_nervous_system(2)	2						c.e36+1		chromodomain helicase DNA binding protein 4							103.0	102.0	102.0					12																	6686950		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6686950C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5361+1G>A	12.37:g.6686950C>T						CHD4_ENST00000357008.2_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site				Q14839	CHD4_HUMAN			36	5609	-								Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37		CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616076	0.87359	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6557211	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.464000	0.80887	2.746000	0.94184	0.655000	0.94253	.		0.463	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Intron	4	84	0	0	0	0.150653	0	4	84				
ZNF134	7693	broad.mit.edu	37	19	58132430	58132430	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:58132430C>T	ENST00000396161.5	+	3	1253	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P315S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGAGAAAATCCTTATGATTG	0.418																																						ENST00000396161.5																			2	Substitution - Missense(2)	p.P315S(2)	prostate(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(943-945)Cct>Tct		zinc finger protein 134							132.0	135.0	134.0					19																	58132430		2201	4300	6501	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132430C>T	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.943C>T	19.37:g.58132430C>T	ENSP00000379464:p.Pro315Ser						p.P315S	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1253	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	315					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.943C>T	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148501	0.78001	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.28454	1.61	4.45	4.45	0.53987	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45458	0.1343	L	0.41027	1.25	0.39501	D	0.968204	D	0.76494	0.999	D	0.64687	0.928	T	0.49652	-0.8917	9	0.87932	D	0	.	16.3388	0.83075	0.0:1.0:0.0:0.0	.	315	P52741	ZN134_HUMAN	S	382;235;315	ENSP00000379464:P315S	ENSP00000379464:P315S	P	+	1	0	ZNF134	62824242	0.476000	0.25901	0.999000	0.59377	0.994000	0.84299	3.294000	0.51787	2.458000	0.83093	0.561000	0.74099	CCT		0.418	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		4	104	0	0	0	0.184627	0	4	104				
HLA-F	3134	broad.mit.edu	37	6	29694720	29694720	+	IGR	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr6:29694720G>A	ENST00000376861.1	+	0	1544				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E|HLA-F_ENST00000440587.2_Missense_Mutation_p.G237E			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						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)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.G366E(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTTCTCCTGGGGGTGCTCTTC	0.498																																						ENST00000440587.2																			1	Substitution - Missense(1)	p.G366E(1)	prostate(1)	cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(709-711)gGg>gAg		major histocompatibility complex, class I, F							121.0	141.0	134.0					6																	29694720		1426	2661	4087	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694720G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694720G>A						HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E|HLA-F_ENST00000475996.1_Intron	p.G237E			P30511	HLAF_HUMAN			6	1069	+			0			Alpha-3.|Ig-like C1-type.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.710G>A	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.02|10.02	1.237245|1.237245	0.22711|0.22711	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258;ENST00000440587|ENST00000444621	T;T|.	0.01025|.	5.43;5.59|.	0.62|0.62	-0.344|-0.344	0.12628|0.12628	.|.	.|.	.|.	.|.	.|.	T|T	0.16685|0.16685	0.0401|0.0401	L|L	0.36672|0.36672	1.1|1.1	0.25609|0.25609	N|N	0.986519|0.986519	D;B|.	0.64830|.	0.994;0.068|.	D;B|.	0.65010|.	0.931;0.017|.	T|T	0.29610|0.29610	-1.0006|-1.0006	9|6	0.87932|0.87932	D|D	0|0	.|.	4.9559|4.9559	0.14038|0.14038	0.2561:0.0:0.7439:0.0|0.2561:0.0:0.7439:0.0	.|.	366;366|.	A8MVU7;P30511-3|.	.;.|.	E|R	343;366;280;237|48	ENSP00000259951:G366E;ENSP00000404130:G237E|.	ENSP00000259951:G366E|ENSP00000392251:G48R	G|G	+|+	2|1	0|0	HLA-F|HLA-F	29802699|29802699	1.000000|1.000000	0.71417|0.71417	0.427000|0.427000	0.26684|0.26684	0.030000|0.030000	0.12068|0.12068	4.802000|4.802000	0.62539|0.62539	-0.212000|-0.212000	0.10109|0.10109	-0.462000|-0.462000	0.05337|0.05337	GGG|GGG		0.498	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		11	132	0	0	0	0.080935	0	11	132				
LILRA4	23547	broad.mit.edu	37	19	54849889	54849889	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:54849889C>T	ENST00000291759.4	-	3	189	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	45	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.V45M(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CAGATGGTCACGGGGTTATGC	0.537											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000291759.4																			1	Substitution - Missense(1)	p.V45M(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(133-135)Gtg>Atg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							103.0	92.0	96.0					19																	54849889		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54849889C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.133G>A	19.37:g.54849889C>T	ENSP00000291759:p.Val45Met		OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003		p.V45M	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	3	189	-	Ovarian(34;0.19)		45			Ig-like C2-type 1.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.133G>A	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	11.48	1.651589	0.29336	.	.	ENSG00000239961	ENST00000291759	T	0.16897	2.31	2.5	0.302	0.15786	Immunoglobulin-like fold (1);	0.135368	0.33610	N	0.004727	T	0.36799	0.0980	M	0.88377	2.95	0.09310	N	0.999999	D	0.89917	1.0	D	0.68483	0.958	T	0.11397	-1.0589	10	0.38643	T	0.18	.	4.4673	0.11696	0.0:0.6605:0.0:0.3395	.	45	P59901	LIRA4_HUMAN	M	45	ENSP00000291759:V45M	ENSP00000291759:V45M	V	-	1	0	LILRA4	59541701	0.097000	0.21791	0.196000	0.23383	0.040000	0.13550	0.539000	0.23175	0.140000	0.18849	0.557000	0.71058	GTG		0.537	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		7	98	0	0	0	0.038147	0	7	98				
PFKM	5213	broad.mit.edu	37	12	48533667	48533667	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:48533667T>C	ENST00000312352.7	+	13	1202	c.1163T>C	c.(1162-1164)cTa>cCa	p.L388P	PFKM_ENST00000547587.1_Missense_Mutation_p.L388P|PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000340802.6_Missense_Mutation_p.L459P|PFKM_ENST00000395233.2_Missense_Mutation_p.L357P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	388	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L388P(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACAAGCTTCTAGCTCATGTC	0.512																																						ENST00000340802.6																			1	Substitution - Missense(1)	p.L388P(1)	prostate(1)	NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1375-1377)cTa>cCa		phosphofructokinase, muscle							113.0	95.0	101.0					12																	48533667		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48533667T>C	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1163T>C	12.37:g.48533667T>C	ENSP00000309438:p.Leu388Pro					PFKM_ENST00000547587.1_Missense_Mutation_p.L388P|PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000312352.7_Missense_Mutation_p.L388P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P|PFKM_ENST00000395233.2_Missense_Mutation_p.L357P	p.L459P	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			15	1600	+			388					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1376T>C	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219666	0.79464	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.03	5.03	0.67393	Phosphofructokinase domain (1);	0.000000	0.64402	D	0.000003	D	0.90872	0.7132	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91833	0.5477	10	0.49607	T	0.09	-2.9809	14.1886	0.65623	0.0:0.0:0.0:1.0	.	357;388;459	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	P	459;388;357;357;388;388	ENSP00000345771:L459P;ENSP00000352842:L388P;ENSP00000378656:L357P;ENSP00000448177:L357P;ENSP00000449426:L388P;ENSP00000309438:L388P	ENSP00000309438:L388P	L	+	2	0	PFKM	46819934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.619000	0.83057	2.239000	0.73571	0.533000	0.62120	CTA		0.512	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		4	37	0	0	0	0.150653	0	4	37				
CEP72	55722	broad.mit.edu	37	5	648008	648008	+	Silent	SNP	G	G	A	rs142569661		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr5:648008G>A	ENST00000264935.5	+	11	1845	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	585					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.T585T(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGGAGCTCACGCAGATGCTGC	0.602																																						ENST00000264935.5																			1	Substitution - coding silent(1)	p.T585T(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1753-1755)acG>acA		centrosomal protein 72kDa		G		0,4404		0,0,2202	50.0	47.0	48.0		1755	-9.1	0.2	5	dbSNP_134	48	1,8581	1.2+/-3.3	0,1,4290	no	coding-synonymous	CEP72	NM_018140.3		0,1,6492	AA,AG,GG		0.0117,0.0,0.0077		585/648	648008	1,12985	2202	4291	6493	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:648008G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1755G>A	5.37:g.648008G>A						CEP72_ENST00000444221.1_3'UTR	p.T585T	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		11	1845	+			585					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1755G>A	CCDS34126.1																																																																																				0.602	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		5	39	0	0	0	0.184627	0	5	39				
CHD4	1108	broad.mit.edu	37	12	6696651	6696651	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:6696651G>A	ENST00000357008.2	-	25	3941	c.3778C>T	c.(3778-3780)Cgt>Tgt	p.R1260C	CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.R1253C|CHD4_ENST00000544484.1_Missense_Mutation_p.R1257C|CHD4_ENST00000309577.6_Missense_Mutation_p.R1260C	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1260					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1260C(3)		central_nervous_system(2)	2						TCCTGGTTACGGTCTAGCAGC	0.458																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Substitution - Missense(3)	p.R1260C(3)	prostate(3)	central_nervous_system(2)	2						c.(3778-3780)Cgt>Tgt		chromodomain helicase DNA binding protein 4							218.0	185.0	196.0					12																	6696651		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6696651G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3778C>T	12.37:g.6696651G>A	ENSP00000349508:p.Arg1260Cys					CHD4_ENST00000357008.2_Missense_Mutation_p.R1260C|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544484.1_Missense_Mutation_p.R1257C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1253C	p.R1260C			Q14839	CHD4_HUMAN			25	3941	-			1260					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3778C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455446	0.63401	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92858	-3.03;-3.12;-3.03;-3.11	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	P;P;D	0.83275	0.885;0.726;0.996	D	0.97965	1.0340	10	0.87932	D	0	-5.2414	20.0212	0.97504	0.0:0.0:1.0:0.0	.	1260;1260;1253	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	C	1257;1253;1260;1260;1234	ENSP00000440392:R1257C;ENSP00000440542:R1253C;ENSP00000312419:R1260C;ENSP00000349508:R1260C	ENSP00000312419:R1260C	R	-	1	0	CHD4	6566912	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.951000	0.70273	2.735000	0.93741	0.561000	0.74099	CGT		0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		22	150	0	0	0	0.076483	0	22	150				
ANO4	121601	broad.mit.edu	37	12	101488062	101488062	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:101488062C>T	ENST00000392977.3	+	18	1940	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	ANO4_ENST00000392979.3_Missense_Mutation_p.T542M|ANO4_ENST00000299222.9_Missense_Mutation_p.T97M|ANO4_ENST00000550015.1_Missense_Mutation_p.T97M			Q32M45	ANO4_HUMAN	anoctamin 4	577					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.T542M(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGCTTCTGACGAATTTAGGT	0.328										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.T542M(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1624-1626)aCg>aTg		anoctamin 4							99.0	100.0	100.0					12																	101488062		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101488062C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1730C>T	12.37:g.101488062C>T	ENSP00000376703:p.Thr577Met	HNSCC(74;0.22)				ANO4_ENST00000299222.9_Missense_Mutation_p.T97M|ANO4_ENST00000392977.3_Missense_Mutation_p.T577M|ANO4_ENST00000550015.1_Missense_Mutation_p.T97M	p.T542M	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			17	1986	+			577					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1625C>T		.	.	.	.	.	.	.	.	.	.	C	24.3	4.510893	0.85389	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.76071	0.901;0.987;0.977	D	0.90150	0.4220	10	0.87932	D	0	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	97;577;542	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	M	542;97;577;97	ENSP00000376705:T542M;ENSP00000299222:T97M;ENSP00000376703:T577M;ENSP00000450192:T97M	ENSP00000299222:T97M	T	+	2	0	ANO4	100012193	1.000000	0.71417	0.992000	0.48379	0.909000	0.53808	7.482000	0.81143	2.788000	0.95919	0.650000	0.86243	ACG		0.328	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		5	55	0	0	0	0.184627	0	5	55				
MSH3	4437	broad.mit.edu	37	5	79952234	79952234	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr5:79952234C>A	ENST00000265081.6	+	2	322	c.242C>A	c.(241-243)aCa>aAa	p.T81K	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	81	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.T81K(1)|p.T72K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATATAGGCTACAGAAATTGAC	0.388								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			2	Substitution - Missense(2)	p.T81K(1)|p.T72K(1)	prostate(2)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(241-243)aCa>aAa	Mismatch excision repair (MMR)	mutS homolog 3							123.0	129.0	127.0					5																	79952234		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79952234C>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.242C>A	5.37:g.79952234C>A	ENSP00000265081:p.Thr81Lys						p.T81K	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	2	322	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	81			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.242C>A	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	6.044	0.376486	0.11466	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86497	-2.13	4.83	3.96	0.45880	.	1.366250	0.04763	N	0.426604	D	0.83073	0.5175	L	0.40543	1.245	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.65944	-0.6045	9	.	.	.	0.0722	9.5204	0.39131	0.0:0.9004:0.0:0.0996	.	81	P20585	MSH3_HUMAN	K	81;72	ENSP00000265081:T81K	.	T	+	2	0	MSH3	79987990	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	1.251000	0.32862	1.153000	0.42468	0.563000	0.77884	ACA		0.388	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		10	140	1	0	1.08611e-07	0.080935	1.3646e-07	10	140				
ANAPC5	51433	broad.mit.edu	37	12	121746472	121746472	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:121746472G>T	ENST00000261819.3	-	17	2200	c.2079C>A	c.(2077-2079)aaC>aaA	p.N693K	ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	693					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.N693K(2)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTCATTGAGGTTCTCGATGG	0.453																																						ENST00000261819.3																			2	Substitution - Missense(2)	p.N693K(2)	prostate(2)	breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(2077-2079)aaC>aaA		anaphase promoting complex subunit 5							117.0	102.0	108.0					12																	121746472		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121746472G>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2079C>A	12.37:g.121746472G>T	ENSP00000261819:p.Asn693Lys					ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K	p.N693K	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			17	2200	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		693					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2079C>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390882	0.42410	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.74	3.88	0.44766	Tetratricopeptide-like helical (1);	0.156175	0.56097	D	0.000035	T	0.61085	0.2319	L	0.44542	1.39	0.80722	D	1	P;B;B	0.38370	0.628;0.118;0.255	B;B;B	0.34489	0.184;0.037;0.053	T	0.56986	-0.7888	10	0.40728	T	0.16	.	6.5596	0.22479	0.1613:0.0:0.6909:0.1478	.	359;581;693	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	K	581;680;693;359;295;581	ENSP00000415061:N581K;ENSP00000439875:N680K;ENSP00000261819:N693K;ENSP00000438754:N359K;ENSP00000343787:N581K	ENSP00000261819:N693K	N	-	3	2	ANAPC5	120230855	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.928000	0.28831	0.741000	0.32674	0.563000	0.77884	AAC		0.453	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			7	103	1	0	1.12685e-05	0.047766	1.34672e-05	7	103				
LPIN1	23175	broad.mit.edu	37	2	11943067	11943067	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:11943067C>T	ENST00000256720.2	+	14	1906	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C	LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	605					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.R605C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGATGAGGAGCGCGCAGCTGC	0.498																																						ENST00000256720.2																			1	Substitution - Missense(1)	p.R605C(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1813-1815)Cgc>Tgc		lipin 1							180.0	163.0	169.0					2																	11943067		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11943067C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1813C>T	2.37:g.11943067C>T	ENSP00000256720:p.Arg605Cys					LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C|LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C	p.R605C	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	14	1906	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		605					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.1813C>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723847	0.48728	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.80909	-1.43;-1.42;-1.42;-1.42;-1.27;-0.42;0.5	4.69	3.75	0.43078	.	0.426017	0.27673	N	0.018326	T	0.73393	0.3581	N	0.19112	0.55	0.35483	D	0.798341	B;P;P	0.49559	0.41;0.925;0.84	B;P;B	0.46758	0.039;0.526;0.039	T	0.82244	-0.0553	10	0.56958	D	0.05	-21.0422	15.3509	0.74384	0.0:0.8602:0.1398:0.0	.	106;690;605	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	C	690;647;611;605;335;106;132	ENSP00000397908:R690C;ENSP00000379406:R647C;ENSP00000401522:R611C;ENSP00000256720:R605C;ENSP00000379404:R335C;ENSP00000386120:R106C;ENSP00000413714:R132C	ENSP00000256720:R605C	R	+	1	0	LPIN1	11860518	0.995000	0.38212	0.938000	0.37757	0.331000	0.28603	3.478000	0.53158	2.310000	0.77875	0.561000	0.74099	CGC		0.498	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		19	172	0	0	0	0.175082	0	19	172				
LHX3	8022	broad.mit.edu	37	9	139091593	139091593	+	Missense_Mutation	SNP	C	C	A	rs142521088		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr9:139091593C>A	ENST00000371748.5	-	3	481	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	LHX3_ENST00000371746.3_Missense_Mutation_p.D134Y	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	129	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D134Y(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TAGAACTCGTCGCCCGTGGCC	0.672																																						ENST00000371746.3																			1	Substitution - Missense(1)	p.D134Y(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(400-402)Gac>Tac		LIM homeobox 3							30.0	29.0	30.0					9																	139091593		2198	4300	6498	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139091593C>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.385G>T	9.37:g.139091593C>A	ENSP00000360813:p.Asp129Tyr					LHX3_ENST00000371748.5_Missense_Mutation_p.D129Y	p.D134Y	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	3	518	-		Myeloproliferative disorder(178;0.0511)	129			LIM zinc-binding 2.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.400G>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647555	0.87958	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.87650	-2.28;-2.28	4.35	4.35	0.52113	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.97549	1.0091	10	0.87932	D	0	.	16.0484	0.80735	0.0:1.0:0.0:0.0	.	129;134	Q9UBR4;F1T0D9	LHX3_HUMAN;.	Y	129;134;132	ENSP00000360813:D129Y;ENSP00000360811:D134Y	ENSP00000319224:D132Y	D	-	1	0	LHX3	138231414	1.000000	0.71417	0.956000	0.39512	0.806000	0.45545	7.314000	0.78988	2.256000	0.74724	0.561000	0.74099	GAC		0.672	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			9	38	1	0	1.12685e-05	0.047766	1.34672e-05	9	38				
KRTAP5-4	387267	broad.mit.edu	37	11	1642884	1642884	+	Missense_Mutation	SNP	A	A	C	rs6578597	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr11:1642884A>C	ENST00000399682.1	-	1	484	c.440T>G	c.(439-441)tTc>tGc	p.F147C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.F147C(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCTGAAGAGAAGCAGCAGGG	0.632													N|||	3375	0.673922	0.7806	0.6138	5008	,	,		12630	0.5139		0.7087	False		,,,				2504	0.7014					ENST00000399682.1																			1	Substitution - Missense(1)	p.F147C(1)	prostate(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(439-441)tTc>tGc		keratin associated protein 5-4							20.0	33.0	29.0					11																	1642884		692	1590	2282	SO:0001583	missense	387267					keratin filament		g.chr11:1642884A>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.440T>G	11.37:g.1642884A>C	ENSP00000382590:p.Phe147Cys						p.F147C	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	484	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	207			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.440T>G		1439	0.6588827838827839	369	0.75	239	0.6602209944751382	301	0.5262237762237763	530	0.6992084432717678	C	3.154	-0.173521	0.06421	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00711	5.8	0.989	-1.98	0.07480	.	.	.	.	.	T	0.00012	0.0000	N	0.00009	-3.08	0.80722	P	0.0	.	.	.	.	.	.	T	0.46359	-0.9197	6	0.51188	T	0.08	.	0.8358	0.01140	0.1953:0.3766:0.1947:0.2334	rs6578597;rs58936235;rs6578597	.	.	.	C	147	ENSP00000382590:F147C	ENSP00000331603:F147C	F	-	2	0	KRTAP5-4	1599460	0.316000	0.24580	0.000000	0.03702	0.005000	0.04900	-0.265000	0.08644	-1.749000	0.01330	-0.349000	0.07799	TTC		0.632	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		7	170	0	0	0	0.038147	0	7	170				
SLC4A3	6508	broad.mit.edu	37	2	220502444	220502444	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr2:220502444G>A	ENST00000358055.3	+	17	3189	c.2677G>A	c.(2677-2679)Gca>Aca	p.A893T	SLC4A3_ENST00000317151.3_Missense_Mutation_p.A893T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A893T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A920T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A920T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	893	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.A920T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCAATACGGCACTGCTCTC	0.657																																						ENST00000358055.3																			1	Substitution - Missense(1)	p.A920T(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(2677-2679)Gca>Aca		solute carrier family 4 (anion exchanger), member 3							86.0	66.0	72.0					2																	220502444		2203	4300	6503	SO:0001583	missense	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220502444G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2677G>A	2.37:g.220502444G>A	ENSP00000350756:p.Ala893Thr					SLC4A3_ENST00000373760.2_Missense_Mutation_p.A893T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A920T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A920T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A893T	p.A893T			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	3189	+		Renal(207;0.0183)	893			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.2677G>A	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.811494	0.90707	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38	4.7	4.7	0.59300	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89860	0.6837	M	0.79343	2.45	0.80722	D	1	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.97110	0.944;0.999;1.0	D	0.91097	0.4911	10	0.87932	D	0	.	18.258	0.90025	0.0:0.0:1.0:0.0	.	597;893;920	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	T	893;893;920;920;153;893	ENSP00000350756:A893T;ENSP00000362865:A893T;ENSP00000273063:A920T;ENSP00000362867:A920T;ENSP00000314006:A893T	ENSP00000273063:A920T	A	+	1	0	SLC4A3	220210688	1.000000	0.71417	0.778000	0.31720	0.469000	0.32828	7.564000	0.82326	2.611000	0.88343	0.551000	0.68910	GCA		0.657	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		3	56	0	0	0	0.150653	0	3	56				
OC90	729330	broad.mit.edu	37	8	133053386	133053386	+	Missense_Mutation	SNP	C	C	T	rs202030846		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr8:133053386C>T	ENST00000443356.2	-	6	448	c.362G>A	c.(361-363)cGc>cAc	p.R121H	OC90_ENST00000254627.3_Missense_Mutation_p.R121H|OC90_ENST00000603859.1_Missense_Mutation_p.R121H|OC90_ENST00000262283.5_Missense_Mutation_p.R317H			Q02509	OC90_HUMAN	otoconin 90	121	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)	p.R317H(1)|p.R127H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ATAGCACCTGCGGTGCTGGAA	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17211	0.0		0.001	False		,,,				2504	0.0					ENST00000262283.5																			2	Substitution - Missense(2)	p.R317H(1)|p.R127H(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37						c.(949-951)cGc>cAc		otoconin 90		C	HIS/ARG	2,3942		0,2,1970	82.0	83.0	83.0		362	5.6	1.0	8		83	6,8316		0,6,4155	yes	missense	OC90	NM_001080399.2	29	0,8,6125	TT,TC,CC		0.0721,0.0507,0.0652	probably-damaging	121/478	133053386	8,12258	1972	4161	6133	SO:0001583	missense	729330				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	g.chr8:133053386C>T	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.362G>A	8.37:g.133053386C>T	ENSP00000390050:p.Arg121His					OC90_ENST00000254627.3_Missense_Mutation_p.R121H|OC90_ENST00000603859.1_Missense_Mutation_p.R121H|OC90_ENST00000443356.2_Missense_Mutation_p.R121H	p.R317H			Q02509	OC90_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000805)		9	1049	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		121					B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	37	c.950G>A		1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	26.2	4.713345	0.89112	5.07E-4	7.21E-4	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26660	1.72;1.72;1.72	5.61	5.61	0.85477	Phospholipase A2 (3);	0.075410	0.52532	D	0.000065	T	0.40297	0.1111	L	0.28014	0.82	0.37106	D	0.90011	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.31641	-0.9936	10	0.40728	T	0.16	-32.9909	18.6744	0.91524	0.0:1.0:0.0:0.0	.	121;121	Q02509-2;Q02509	.;OC90_HUMAN	H	121;121;317	ENSP00000254627:R121H;ENSP00000390050:R121H;ENSP00000262283:R317H	ENSP00000254627:R121H	R	-	2	0	RP11-240B13.2;OC90	133122568	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.457000	0.66672	2.669000	0.90835	0.585000	0.79938	CGC		0.557	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399		5	94	0	0	0	0.217242	0	5	94				
LRIG3	121227	broad.mit.edu	37	12	59282122	59282122	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr12:59282122C>G	ENST00000320743.3	-	7	1222	c.936G>C	c.(934-936)aaG>aaC	p.K312N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	312					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K312N(2)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCTCACTGAGCTTCTGGCAGA	0.493			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	2	Substitution - Missense(2)	p.K312N(2)	prostate(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(934-936)aaG>aaC		leucine-rich repeats and immunoglobulin-like domains 3							90.0	85.0	87.0					12																	59282122		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59282122C>G	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.936G>C	12.37:g.59282122C>G	ENSP00000326759:p.Lys312Asn					LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N	p.K312N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		7	1222	-			312					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.936G>C	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189165	0.38707	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.54479	0.57;0.57	5.76	0.592	0.17471	.	0.000000	0.39407	N	0.001379	T	0.40979	0.1139	N	0.04320	-0.23	0.54753	D	0.999987	B;D	0.89917	0.22;1.0	B;D	0.74348	0.198;0.983	T	0.30268	-0.9984	9	.	.	.	.	5.4682	0.16656	0.0:0.3235:0.1397:0.5369	.	252;312	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	N	252;312	ENSP00000368436:K252N;ENSP00000326759:K312N	.	K	-	3	2	LRIG3	57568389	0.993000	0.37304	0.998000	0.56505	0.983000	0.72400	0.259000	0.18405	-0.068000	0.12953	-0.182000	0.12963	AAG		0.493	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		8	77	0	0	0	0.278610	0	8	77				
ANO4	121601	broad.mit.edu	37	12	101488062	101488062	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr12:101488062C>T	ENST00000392977.3	+	18	1940	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	ANO4_ENST00000392979.3_Missense_Mutation_p.T542M|ANO4_ENST00000299222.9_Missense_Mutation_p.T97M|ANO4_ENST00000550015.1_Missense_Mutation_p.T97M			Q32M45	ANO4_HUMAN	anoctamin 4	577					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.T542M(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGCTTCTGACGAATTTAGGT	0.328										HNSCC(74;0.22)																												ENST00000392979.3																			1	Substitution - Missense(1)	p.T542M(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1624-1626)aCg>aTg		anoctamin 4							99.0	100.0	100.0					12																	101488062		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101488062C>T	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1730C>T	12.37:g.101488062C>T	ENSP00000376703:p.Thr577Met	HNSCC(74;0.22)				ANO4_ENST00000392977.3_Missense_Mutation_p.T577M|ANO4_ENST00000550015.1_Missense_Mutation_p.T97M|ANO4_ENST00000299222.9_Missense_Mutation_p.T97M	p.T542M	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN			17	1986	+			577					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1625C>T		.	.	.	.	.	.	.	.	.	.	C	24.3	4.510893	0.85389	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.76071	0.901;0.987;0.977	D	0.90150	0.4220	10	0.87932	D	0	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	97;577;542	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	M	542;97;577;97	ENSP00000376705:T542M;ENSP00000299222:T97M;ENSP00000376703:T577M;ENSP00000450192:T97M	ENSP00000299222:T97M	T	+	2	0	ANO4	100012193	1.000000	0.71417	0.992000	0.48379	0.909000	0.53808	7.482000	0.81143	2.788000	0.95919	0.650000	0.86243	ACG		0.328	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		5	55	0	0	0	0.184627	0	5	55				
RXFP1	59350	broad.mit.edu	37	4	159567948	159567948	+	Missense_Mutation	SNP	G	G	A	rs372722673		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr4:159567948G>A	ENST00000307765.5	+	16	1602	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	RXFP1_ENST00000470033.1_Missense_Mutation_p.D418N|RXFP1_ENST00000460056.2_Missense_Mutation_p.D370N|RXFP1_ENST00000448688.2_Missense_Mutation_p.D346N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D403N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	451					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.D451N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCTAGGTGCCGACTGCTTAAT	0.348																																						ENST00000307765.5																			1	Substitution - Missense(1)	p.D451N(1)	prostate(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(1351-1353)Gac>Aac		relaxin/insulin-like family peptide receptor 1							121.0	109.0	113.0					4																	159567948		1837	4087	5924	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159567948G>A	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1351G>A	4.37:g.159567948G>A	ENSP00000303248:p.Asp451Asn					RXFP1_ENST00000460056.2_Missense_Mutation_p.D370N|RXFP1_ENST00000448688.2_Missense_Mutation_p.D346N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D403N|RXFP1_ENST00000470033.1_Missense_Mutation_p.D418N	p.D451N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	16	1602	+	all_hematologic(180;0.24)	Renal(120;0.0854)	451					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.1351G>A	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	G	36	5.604650	0.96626	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.95560	0.8557	M	0.88906	2.99	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0;1.0	D	0.95159	0.8280	10	0.49607	T	0.09	.	19.7093	0.96085	0.0:0.0:1.0:0.0	.	462;478;346;403;418;370;321;451	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	N	370;451;346;403;418;321	ENSP00000423306:D370N;ENSP00000303248:D451N;ENSP00000414885:D346N;ENSP00000345889:D403N;ENSP00000420712:D418N	ENSP00000303248:D451N	D	+	1	0	RXFP1	159787398	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	9.777000	0.99008	2.645000	0.89757	0.650000	0.86243	GAC		0.348	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		9	85	0	0	0	0.335167	0	9	85				
TIE1	7075	broad.mit.edu	37	1	43783609	43783609	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr1:43783609C>T	ENST00000372476.3	+	17	2867	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R575W	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	930	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)	p.R930W(2)		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)				AGATTTTCTGCGGAAAAGCCG	0.527																																						ENST00000372476.3																			2	Substitution - Missense(2)	p.R930W(2)	prostate(2)	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.(2788-2790)Cgg>Tgg		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							196.0	210.0	205.0					1																	43783609		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43783609C>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.2788C>T	1.37:g.43783609C>T	ENSP00000361554:p.Arg930Trp					TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R575W	p.R930W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			17	2867	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	930			Protein kinase.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.2788C>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623112	0.66901	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	D;D	0.84589	-1.87;-1.87	6.06	0.713	0.18173	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.205040	0.23809	N	0.044351	D	0.91758	0.7393	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90931	0.4790	10	0.87932	D	0	.	12.4715	0.55790	0.4527:0.4427:0.1046:0.0	.	885;575;930	B4DTW8;B4DKW0;P35590	.;.;TIE1_HUMAN	W	930;333;213;575	ENSP00000361554:R930W;ENSP00000411728:R575W	ENSP00000361553:R333W	R	+	1	2	TIE1	43556196	0.995000	0.38212	0.492000	0.27490	0.873000	0.50193	2.601000	0.46249	-0.106000	0.12110	0.655000	0.94253	CGG		0.527	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		28	298	0	0	0	0.729181	0	28	298				
ADAM28	10863	broad.mit.edu	37	8	24199261	24199261	+	Silent	SNP	C	C	T	rs149263503	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr8:24199261C>T	ENST00000265769.4	+	16	1931	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	607	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G607G(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTAAGTGTGGCGATAACAAGG	0.408																																					NSCLC(193;488 2149 22258 34798 40734)	ENST00000265769.4																			2	Substitution - coding silent(2)	p.G607G(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1819-1821)ggC>ggT		ADAM metallopeptidase domain 28		T		4,4402	8.1+/-20.4	0,4,2199	176.0	170.0	172.0		1821	-11.3	0.0	8	dbSNP_134	172	0,8600		0,0,4300	no	coding-synonymous	ADAM28	NM_014265.4		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		607/776	24199261	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199261C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1821C>T	8.37:g.24199261C>T						RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G	p.G607G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1931	+		Prostate(55;0.0959)	607			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1821C>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	c	3.672	-0.067409	0.07273	9.08E-4	0.0	ENSG00000042980	ENST00000521629;ENST00000518326	.	.	.	5.83	-11.3	0.00108	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3085	0.00284	0.2618:0.1589:0.238:0.3413	.	.	.	.	X	240;33	.	.	R	+	1	2	ADAM28	24255206	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.125000	0.03257	-2.063000	0.00890	-1.885000	0.00541	CGA		0.408	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		5	89	0	0	0	0.184627	0	5	89				
ZFC3H1	196441	broad.mit.edu	37	12	72036214	72036214	+	Splice_Site	SNP	A	A	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr12:72036214A>C	ENST00000378743.3	-	6	1986		c.e6+1		SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGGCTCATACCTGGAGAAC	0.343																																						ENST00000378743.3																			1	Unknown(1)	p.?(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.e6+1		zinc finger, C3H1-type containing							149.0	135.0	139.0					12																	72036214		1844	4097	5941	SO:0001630	splice_region_variant	196441				RNA processing	intracellular	metal ion binding	g.chr12:72036214A>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1627+1T>G	12.37:g.72036214A>C								NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			6	1986	-								Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Splice_Site	SNP	ENST00000378743.3	37		CCDS41813.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237221	0.79800	.	.	ENSG00000133858	ENST00000378743	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5877	0.76499	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZFC3H1	70322481	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.281000	0.89905	2.099000	0.63709	0.454000	0.30748	.		0.343	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	Intron	7	68	0	0	0	0.248553	0	7	68				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	56	0	0	0	0.184627	0	3	56				
TTLL5	23093	broad.mit.edu	37	14	76224211	76224211	+	Intron	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr14:76224211C>T	ENST00000298832.9	+	18	1755				TTLL5_ENST00000556893.1_Splice_Site_p.R68*|TTLL5_ENST00000554510.1_Splice_Site_p.R26*|TTLL5_ENST00000557636.1_Intron|TTLL5_ENST00000555422.1_Intron	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGGAAGAACACGGTAATTGAC	0.383																																						ENST00000556893.1																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.e4+1		tubulin tyrosine ligase-like family, member 5							81.0	77.0	78.0					14																	76224211		876	1991	2867	SO:0001627	intron_variant	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76224211C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1550+4913C>T	14.37:g.76224211C>T						TTLL5_ENST00000554510.1_Splice_Site_p.R26_splice|TTLL5_ENST00000557636.1_Intron|TTLL5_ENST00000298832.9_Intron|TTLL5_ENST00000555422.1_Intron	p.R68_splice			Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	4	272	+			517			TTL.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Splice_Site	SNP	ENST00000298832.9	37	c.203_splice	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	36	5.721983	0.96839	.	.	ENSG00000119685	ENST00000393826;ENST00000556893;ENST00000554510	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2281	0.65873	0.0:1.0:0.0:0.0	.	.	.	.	X	68;68;26	.	ENSP00000377412:R68X	R	+	1	2	TTLL5	75293964	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.834000	0.55798	2.749000	0.94314	0.549000	0.68633	CGA		0.383	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		3	53	0	0	0	0.115264	0	3	53				
TTC30A	92104	broad.mit.edu	37	2	178483090	178483090	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr2:178483090G>A	ENST00000355689.5	-	1	604	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	114					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.R114W(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGGAGGACCCGGCTGTGGTAG	0.642																																						ENST00000355689.4																			1	Substitution - Missense(1)	p.R114W(1)	prostate(1)	autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(340-342)Cgg>Tgg		tetratricopeptide repeat domain 30A							44.0	49.0	47.0					2																	178483090		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178483090G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.340C>T	2.37:g.178483090G>A	ENSP00000347915:p.Arg114Trp					AC073834.3_ENST00000357045.4_RNA	p.R114W	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	604	-			114					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.340C>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680386	0.68042	.	.	ENSG00000197557	ENST00000355689	T	0.78595	-1.19	6.03	6.03	0.97812	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.235555	0.44483	D	0.000455	T	0.79335	0.4428	L	0.55990	1.75	0.43230	D	0.995123	D	0.67145	0.996	P	0.49528	0.614	T	0.81304	-0.0993	10	0.87932	D	0	.	14.4504	0.67382	0.0:0.0:0.8533:0.1467	.	114	Q86WT1	TT30A_HUMAN	W	114	ENSP00000347915:R114W	ENSP00000347915:R114W	R	-	1	2	TTC30A	178191336	0.997000	0.39634	0.990000	0.47175	0.986000	0.74619	3.232000	0.51302	2.868000	0.98415	0.555000	0.69702	CGG		0.642	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		10	71	0	0	0	0.335167	0	10	71				
DNAH17	8632	broad.mit.edu	37	17	76459153	76459153	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr17:76459153C>T	ENST00000585328.1	-	57	9056	c.8932G>A	c.(8932-8934)Gtc>Atc	p.V2978I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.V2969I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2969	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V2978I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGGCCTTGACTTCCCACTAC	0.562																																						ENST00000389840.5																			1	Substitution - Missense(1)	p.V2978I(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8905-8907)Gtc>Atc		dynein, axonemal, heavy chain 17							108.0	83.0	91.0					17																	76459153		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76459153C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8932G>A	17.37:g.76459153C>T	ENSP00000465516:p.Val2978Ile					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V2978I	p.V2969I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		57	9029	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8905G>A		.	.	.	.	.	.	.	.	.	.	C	14.99	2.698846	0.48307	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.46451	0.87	4.91	4.91	0.64330	.	.	.	.	.	T	0.34571	0.0902	N	0.16130	0.375	0.42825	D	0.994008	.	.	.	.	.	.	T	0.11842	-1.0571	7	0.15952	T	0.53	.	17.6869	0.88258	0.0:1.0:0.0:0.0	.	.	.	.	I	2978;2969	ENSP00000374490:V2969I	ENSP00000300671:V2978I	V	-	1	0	DNAH17	73970748	1.000000	0.71417	0.979000	0.43373	0.780000	0.44128	5.676000	0.68131	2.277000	0.76020	0.555000	0.69702	GTC		0.562	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	27	0	0	0	0.150653	0	3	27				
PLEKHA5	54477	broad.mit.edu	37	12	19511256	19511256	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr12:19511256A>G	ENST00000299275.6	+	21	2741	c.2735A>G	c.(2734-2736)cAt>cGt	p.H912R	PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.H970R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	912					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.H912R(2)|p.H1073R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATAAGAAGACATCAACAAGCG	0.433																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			3	Substitution - Missense(3)	p.H912R(2)|p.H1073R(1)	prostate(3)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2908-2910)cAt>cGt		pleckstrin homology domain containing, family A member 5							109.0	91.0	97.0					12																	19511256		2203	4300	6503	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19511256A>G	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2735A>G	12.37:g.19511256A>G	ENSP00000299275:p.His912Arg					PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.H912R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R	p.H970R	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			23	2913	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		912	P -> S (in Ref. 6; BAA91742).				A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.2909A>G	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044801	0.36085	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.52057	2.24;1.95;2.16;2.2;2.06;1.74;1.95;2.19;2.19;2.27;0.68	5.36	4.2	0.49525	.	0.150024	0.64402	D	0.000016	T	0.44265	0.1285	L	0.58810	1.83	0.39025	D	0.95982	B;B;B;B;B;B;B;B	0.23249	0.01;0.008;0.024;0.007;0.082;0.009;0.005;0.016	B;B;B;B;B;B;B;B	0.25140	0.013;0.023;0.014;0.005;0.058;0.006;0.01;0.033	T	0.49021	-0.8982	10	0.48119	T	0.1	-23.6537	11.4842	0.50344	0.9203:0.0:0.0797:0.0	.	975;894;901;1073;856;1078;912;970	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	R	975;970;856;1074;1078;912;670;970;901;894;867;193	ENSP00000325155:H975R;ENSP00000347560:H970R;ENSP00000352104:H856R;ENSP00000404296:H1078R;ENSP00000299275:H912R;ENSP00000440611:H670R;ENSP00000439673:H970R;ENSP00000400411:H901R;ENSP00000439837:H894R;ENSP00000440371:H867R;ENSP00000443553:H193R	ENSP00000299275:H912R	H	+	2	0	PLEKHA5	19402523	1.000000	0.71417	0.814000	0.32528	0.777000	0.43975	4.775000	0.62346	2.263000	0.75096	0.451000	0.29950	CAT		0.433	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		4	36	0	0	0	0.150653	0	4	36				
ABCF3	55324	broad.mit.edu	37	3	183908945	183908945	+	Missense_Mutation	SNP	A	A	C	rs140615216		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr3:183908945A>C	ENST00000429586.2	+	16	1656	c.1471A>C	c.(1471-1473)Att>Ctt	p.I491L	ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	491					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.I491L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCGCCGCCAATTCTGCAGCT	0.557																																						ENST00000429586.2																			1	Substitution - Missense(1)	p.I491L(1)	prostate(1)	breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1471-1473)Att>Ctt		ATP-binding cassette, sub-family F (GCN20), member 3							160.0	150.0	153.0					3																	183908945		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183908945A>C	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1471A>C	3.37:g.183908945A>C	ENSP00000411471:p.Ile491Leu					EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L	p.I491L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	1656	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		491					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1471A>C	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.386190	0.42308	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.91521	-2.86;-2.86	5.74	0.507	0.16967	.	0.165681	0.52532	D	0.000065	T	0.78104	0.4231	N	0.11106	0.095	0.49299	D	0.999778	B;B	0.11235	0.004;0.001	B;B	0.15870	0.014;0.002	T	0.65274	-0.6208	10	0.30078	T	0.28	-7.5428	9.5878	0.39528	0.7082:0.0:0.2918:0.0	.	485;491	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	L	491;485	ENSP00000411471:I491L;ENSP00000292808:I485L	ENSP00000292808:I485L	I	+	1	0	ABCF3	185391639	0.566000	0.26618	0.131000	0.22000	0.996000	0.88848	1.404000	0.34623	0.364000	0.24374	0.533000	0.62120	ATT		0.557	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		8	119	0	0	0	0.307466	0	8	119				
ZNF678	339500	broad.mit.edu	37	1	227842075	227842075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr1:227842075C>T	ENST00000343776.5	+	4	469	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	ZNF678_ENST00000608949.1_Nonsense_Mutation_p.Q42*|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97*	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q42*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTTGCCAGAGCAGGATATGAA	0.333																																						ENST00000343776.4																			1	Substitution - Nonsense(1)	p.Q42*(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(124-126)Cag>Tag		zinc finger protein 678							96.0	105.0	102.0					1																	227842075		2202	4299	6501	SO:0001587	stop_gained	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842075C>T	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.124C>T	1.37:g.227842075C>T	ENSP00000344828:p.Gln42*					ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97*	p.Q42*			F5GXA7	F5GXA7_HUMAN			4	469	+		Prostate(94;0.0885)	97					Q8IVQ9	Nonsense_Mutation	SNP	ENST00000343776.5	37	c.124C>T		.	.	.	.	.	.	.	.	.	.	C	8.368	0.834578	0.16820	.	.	ENSG00000181450	ENST00000343776;ENST00000397097;ENST00000440339	.	.	.	1.5	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	6.0899	0.19989	0.0:0.6739:0.3261:0.0	.	.	.	.	X	42;97;97	.	ENSP00000344828:Q42X	Q	+	1	0	ZNF678	225908698	0.034000	0.19679	0.058000	0.19502	0.101000	0.19017	0.746000	0.26275	0.708000	0.31955	0.514000	0.50259	CAG		0.333	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	NM_178549		11	134	0	0	0	0.435327	0	11	134				
GART	2618	broad.mit.edu	37	21	34903824	34903824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr21:34903824C>A	ENST00000381831.3	-	6	831	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	GART_ENST00000381839.3_Nonsense_Mutation_p.E190*|GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Nonsense_Mutation_p.E190*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	190	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.E190*(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGAAGTTCTTCAATGACAATT	0.353																																						ENST00000381831.3																			1	Substitution - Nonsense(1)	p.E190*(1)	prostate(1)	NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31						c.(568-570)Gaa>Taa		phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	Pemetrexed(DB00642)						143.0	144.0	144.0					21																	34903824		2203	4300	6503	SO:0001587	stop_gained	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34903824C>A	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.568G>T	21.37:g.34903824C>A	ENSP00000371253:p.Glu190*					GART_ENST00000361093.5_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR|GART_ENST00000381815.4_Nonsense_Mutation_p.E190*|GART_ENST00000381839.3_Nonsense_Mutation_p.E190*	p.E190*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN			6	831	-			190			ATP-grasp.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Nonsense_Mutation	SNP	ENST00000381831.3	37	c.568G>T	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	C	39	7.378762	0.98248	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.5951	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	190	.	ENSP00000354388:E190X	E	-	1	0	GART	33825694	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	6.786000	0.75094	2.890000	0.99128	0.650000	0.86243	GAA		0.353	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		16	168	1	0	5.01169e-05	0.520397	5.80901e-05	16	168				
NTM	50863	broad.mit.edu	37	11	132081914	132081914	+	Splice_Site	SNP	A	A	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr11:132081914A>C	ENST00000374786.1	+	3	879		c.e3-1		NTM_ENST00000474900.1_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000427481.2_Splice_Site	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.?(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTGTTTCCACAGTATCTCCCA	0.383																																						ENST00000374786.1																			2	Unknown(2)	p.?(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						c.e3-1		neurotrimin							59.0	60.0	60.0					11																	132081914		2201	4297	6498	SO:0001630	splice_region_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132081914A>C	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.401-1A>C	11.37:g.132081914A>C						NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000474900.1_Splice_Site		NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN			3	879	+								A0MTT2|Q6UXJ3|Q86VJ9	Splice_Site	SNP	ENST00000374786.1	37		CCDS8491.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954948	0.73902	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5764	0.84681	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NTM	131587124	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.420000	0.90256	2.371000	0.80710	0.533000	0.62120	.		0.383	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522	Intron	4	35	0	0	0	0.150653	0	4	35				
CEP85L	387119	broad.mit.edu	37	6	118790443	118790443	+	Silent	SNP	T	T	G			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr6:118790443T>G	ENST00000368491.3	-	12	2667	c.2046A>C	c.(2044-2046)acA>acC	p.T682T	CEP85L_ENST00000368488.5_Silent_p.T685T	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	682						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T682T(1)									ATAAAGAGCATGTCTCATCTG	0.413																																						ENST00000368491.3																			1	Substitution - coding silent(1)	p.T682T(1)	prostate(1)								c.(2044-2046)acA>acC		centrosomal protein 85kDa-like							149.0	138.0	142.0					6																	118790443		1876	4123	5999	SO:0001819	synonymous_variant	387119					centrosome		g.chr6:118790443T>G	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.2046A>C	6.37:g.118790443T>G						CEP85L_ENST00000368488.5_Silent_p.T685T	p.T682T	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			12	2667	-			682					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Silent	SNP	ENST00000368491.3	37	c.2046A>C	CCDS43498.1																																																																																				0.413	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		10	123	0	0	0	0.387290	0	10	123				
SNRNP27	11017	broad.mit.edu	37	2	70130361	70130361	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr2:70130361C>T	ENST00000244227.3	+	5	822	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	AC019206.1_ENST00000599032.1_5'Flank|SNRNP27_ENST00000488986.1_3'UTR|SNRNP27_ENST00000409116.1_Intron	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	133					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.Q133*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGTCTCTCAGAAGAGGAA	0.328																																						ENST00000244227.3																			1	Substitution - Nonsense(1)	p.Q133*(1)	prostate(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(397-399)Cag>Tag		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)							190.0	175.0	180.0					2																	70130361		2203	4300	6503	SO:0001587	stop_gained	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70130361C>T	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.397C>T	2.37:g.70130361C>T	ENSP00000244227:p.Gln133*					SNRNP27_ENST00000409116.1_Intron|SNRNP27_ENST00000488986.1_3'UTR	p.Q133*	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN			5	822	+			133					Q15410	Nonsense_Mutation	SNP	ENST00000244227.3	37	c.397C>T	CCDS33219.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397334	0.62177	.	.	ENSG00000124380	ENST00000244227	.	.	.	4.72	4.72	0.59763	.	0.179024	0.49305	D	0.000160	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2166	0.73270	0.0:1.0:0.0:0.0	.	.	.	.	X	133	.	ENSP00000244227:Q133X	Q	+	1	0	SNRNP27	69983865	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.320000	0.59203	2.436000	0.82500	0.462000	0.41574	CAG		0.328	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		10	117	0	0	0	0.387290	0	10	117				
WT1-AS	51352	broad.mit.edu	37	11	32460593	32460593	+	RNA	SNP	T	T	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr11:32460593T>C	ENST00000395900.1	+	0	1471				WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000459866.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000525436.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA									p.C56R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						ACCCCGGCGCTGTCCACTGCA	0.617																																						ENST00000395900.1																			1	Substitution - Missense(1)	p.C56R(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6															37.0	35.0	36.0					11																	32460593		2202	4299	6501			0							g.chr11:32460593T>C	BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32460593T>C						WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000426618.2_RNA		NR_023920.1						0	1471	+								Q4KMY0|Q96A27	RNA	SNP	ENST00000395900.1	37																																																																																						0.617	WT1-AS-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095437.1	NR_023920		3	54	0	0	0	0.150653	0	3	54				
PEG10	23089	broad.mit.edu	37	7	94293246	94293246	+	Silent	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr7:94293246C>T	ENST00000482108.1	+	2	857	c.378C>T	c.(376-378)acC>acT	p.T126T	PEG10_ENST00000488574.1_Silent_p.T126T	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	126	Necessary for interaction with ALK1.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T126T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGATGACCGGCCGTGCTG	0.532																																						ENST00000482108.1																			1	Substitution - coding silent(1)	p.T126T(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21						c.(376-378)acC>acT		paternally expressed 10							80.0	85.0	83.0					7																	94293246		2046	4196	6242	SO:0001819	synonymous_variant	23089				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr7:94293246C>T	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.378C>T	7.37:g.94293246C>T						PEG10_ENST00000488574.1_Silent_p.T126T	p.T126T	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	857	+	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		126			Necessary for interaction with ALK1.		Q96A68|Q9UPV1	Silent	SNP	ENST00000482108.1	37	c.378C>T	CCDS55126.1																																																																																				0.532	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068		7	99	0	0	0	0.278610	0	7	99				
CHD4	1108	broad.mit.edu	37	12	6686950	6686950	+	Splice_Site	SNP	C	C	T	rs529117126		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr12:6686950C>T	ENST00000357008.2	-	37	5525		c.e37+1		RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000309577.6_Splice_Site	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.?(3)		central_nervous_system(2)	2						CAACCGCTCACCTTAAACCTT	0.463																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Unknown(3)	p.?(3)	prostate(3)	central_nervous_system(2)	2						c.e36+1		chromodomain helicase DNA binding protein 4							103.0	102.0	102.0					12																	6686950		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6686950C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5361+1G>A	12.37:g.6686950C>T						CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site				Q14839	CHD4_HUMAN			36	5609	-								Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37		CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616076	0.87359	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7859	0.96437	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6557211	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.464000	0.80887	2.746000	0.94184	0.655000	0.94253	.		0.463	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Intron	4	84	0	0	0	0.150653	0	4	84				
ZNF134	7693	broad.mit.edu	37	19	58132430	58132430	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr19:58132430C>T	ENST00000396161.5	+	3	1253	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	315					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P315S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGAGAAAATCCTTATGATTG	0.418																																						ENST00000396161.5																			2	Substitution - Missense(2)	p.P315S(2)	prostate(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(943-945)Cct>Tct		zinc finger protein 134							132.0	135.0	134.0					19																	58132430		2201	4300	6501	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132430C>T	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.943C>T	19.37:g.58132430C>T	ENSP00000379464:p.Pro315Ser						p.P315S	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1253	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	315					Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.943C>T	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148501	0.78001	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.28454	1.61	4.45	4.45	0.53987	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45458	0.1343	L	0.41027	1.25	0.39501	D	0.968204	D	0.76494	0.999	D	0.64687	0.928	T	0.49652	-0.8917	9	0.87932	D	0	.	16.3388	0.83075	0.0:1.0:0.0:0.0	.	315	P52741	ZN134_HUMAN	S	382;235;315	ENSP00000379464:P315S	ENSP00000379464:P315S	P	+	1	0	ZNF134	62824242	0.476000	0.25901	0.999000	0.59377	0.994000	0.84299	3.294000	0.51787	2.458000	0.83093	0.561000	0.74099	CCT		0.418	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		4	104	0	0	0	0.184627	0	4	104				
HLA-F	3134	broad.mit.edu	37	6	29694720	29694720	+	IGR	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr6:29694720G>A	ENST00000376861.1	+	0	1544				HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E|HLA-F_ENST00000440587.2_Missense_Mutation_p.G237E			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						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)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.G366E(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTTCTCCTGGGGGTGCTCTTC	0.498																																						ENST00000440587.2																			1	Substitution - Missense(1)	p.G366E(1)	prostate(1)	cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(709-711)gGg>gAg		major histocompatibility complex, class I, F							121.0	141.0	134.0					6																	29694720		1426	2661	4087	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694720G>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694720G>A						HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E	p.G237E			P30511	HLAF_HUMAN			6	1069	+			0			Alpha-3.|Ig-like C1-type.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.710G>A	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.02|10.02	1.237245|1.237245	0.22711|0.22711	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258;ENST00000440587|ENST00000444621	T;T|.	0.01025|.	5.43;5.59|.	0.62|0.62	-0.344|-0.344	0.12628|0.12628	.|.	.|.	.|.	.|.	.|.	T|T	0.16685|0.16685	0.0401|0.0401	L|L	0.36672|0.36672	1.1|1.1	0.25609|0.25609	N|N	0.986519|0.986519	D;B|.	0.64830|.	0.994;0.068|.	D;B|.	0.65010|.	0.931;0.017|.	T|T	0.29610|0.29610	-1.0006|-1.0006	9|6	0.87932|0.87932	D|D	0|0	.|.	4.9559|4.9559	0.14038|0.14038	0.2561:0.0:0.7439:0.0|0.2561:0.0:0.7439:0.0	.|.	366;366|.	A8MVU7;P30511-3|.	.;.|.	E|R	343;366;280;237|48	ENSP00000259951:G366E;ENSP00000404130:G237E|.	ENSP00000259951:G366E|ENSP00000392251:G48R	G|G	+|+	2|1	0|0	HLA-F|HLA-F	29802699|29802699	1.000000|1.000000	0.71417|0.71417	0.427000|0.427000	0.26684|0.26684	0.030000|0.030000	0.12068|0.12068	4.802000|4.802000	0.62539|0.62539	-0.212000|-0.212000	0.10109|0.10109	-0.462000|-0.462000	0.05337|0.05337	GGG|GGG		0.498	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		11	132	0	0	0	0.387290	0	11	132				
LILRA4	23547	broad.mit.edu	37	19	54849889	54849889	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr19:54849889C>T	ENST00000291759.4	-	3	189	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	45	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.V45M(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CAGATGGTCACGGGGTTATGC	0.537											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000291759.4																			1	Substitution - Missense(1)	p.V45M(1)	prostate(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(133-135)Gtg>Atg		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							103.0	92.0	96.0					19																	54849889		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54849889C>T	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.133G>A	19.37:g.54849889C>T	ENSP00000291759:p.Val45Met		OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1003		p.V45M	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	3	189	-	Ovarian(34;0.19)		45			Ig-like C2-type 1.		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.133G>A	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	11.48	1.651589	0.29336	.	.	ENSG00000239961	ENST00000291759	T	0.16897	2.31	2.5	0.302	0.15786	Immunoglobulin-like fold (1);	0.135368	0.33610	N	0.004727	T	0.36799	0.0980	M	0.88377	2.95	0.09310	N	0.999999	D	0.89917	1.0	D	0.68483	0.958	T	0.11397	-1.0589	10	0.38643	T	0.18	.	4.4673	0.11696	0.0:0.6605:0.0:0.3395	.	45	P59901	LIRA4_HUMAN	M	45	ENSP00000291759:V45M	ENSP00000291759:V45M	V	-	1	0	LILRA4	59541701	0.097000	0.21791	0.196000	0.23383	0.040000	0.13550	0.539000	0.23175	0.140000	0.18849	0.557000	0.71058	GTG		0.537	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		7	98	0	0	0	0.278610	0	7	98				
PLA2G4F	255189	broad.mit.edu	37	15	42446634	42446634	+	Silent	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr15:42446634C>T	ENST00000382396.4	-	3	293	c.207G>A	c.(205-207)gtG>gtA	p.V69V	PLA2G4F_ENST00000397272.3_Silent_p.V69V			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	69	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.V69V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCACAGTTGCACATAGCAGT	0.597																																						ENST00000397272.3																			1	Substitution - coding silent(1)	p.V69V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(205-207)gtG>gtA		phospholipase A2, group IVF							42.0	37.0	38.0					15																	42446634		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42446634C>T		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.207G>A	15.37:g.42446634C>T						PLA2G4F_ENST00000382396.4_Silent_p.V69V	p.V69V	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	298	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	69			C2.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.207G>A	CCDS32204.1																																																																																				0.597	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		5	32	0	0	0	0.184627	0	5	32				
PFKM	5213	broad.mit.edu	37	12	48533667	48533667	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr12:48533667T>C	ENST00000312352.7	+	13	1202	c.1163T>C	c.(1162-1164)cTa>cCa	p.L388P	PFKM_ENST00000547587.1_Missense_Mutation_p.L388P|PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000340802.6_Missense_Mutation_p.L459P|PFKM_ENST00000395233.2_Missense_Mutation_p.L357P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	388	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L388P(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACAAGCTTCTAGCTCATGTC	0.512																																						ENST00000340802.6																			1	Substitution - Missense(1)	p.L388P(1)	prostate(1)	NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1375-1377)cTa>cCa		phosphofructokinase, muscle							113.0	95.0	101.0					12																	48533667		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48533667T>C	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1163T>C	12.37:g.48533667T>C	ENSP00000309438:p.Leu388Pro					PFKM_ENST00000395233.2_Missense_Mutation_p.L357P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P|PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000312352.7_Missense_Mutation_p.L388P|PFKM_ENST00000547587.1_Missense_Mutation_p.L388P	p.L459P	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			15	1600	+			388					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1376T>C	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.219666	0.79464	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.03	5.03	0.67393	Phosphofructokinase domain (1);	0.000000	0.64402	D	0.000003	D	0.90872	0.7132	M	0.89840	3.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91833	0.5477	10	0.49607	T	0.09	-2.9809	14.1886	0.65623	0.0:0.0:0.0:1.0	.	357;388;459	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	P	459;388;357;357;388;388	ENSP00000345771:L459P;ENSP00000352842:L388P;ENSP00000378656:L357P;ENSP00000448177:L357P;ENSP00000449426:L388P;ENSP00000309438:L388P	ENSP00000309438:L388P	L	+	2	0	PFKM	46819934	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.619000	0.83057	2.239000	0.73571	0.533000	0.62120	CTA		0.512	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		4	37	0	0	0	0.150653	0	4	37				
KRT83	3889	broad.mit.edu	37	12	52709845	52709845	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr12:52709845G>T	ENST00000293670.3	-	7	1156	c.1094C>A	c.(1093-1095)gCc>gAc	p.A365D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	365	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.A365D(2)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.597																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			2	Substitution - Missense(2)	p.A365D(2)	prostate(1)|endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(1093-1095)gCc>gAc		keratin 83							36.0	36.0	36.0					12																	52709845		2203	4299	6502	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52709845G>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1094C>A	12.37:g.52709845G>T	ENSP00000293670:p.Ala365Asp						p.A365D	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1156	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		365			Coil 2.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.1094C>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319489	0.60524	.	.	ENSG00000170523	ENST00000293670	T	0.74737	-0.87	3.84	3.84	0.44239	Filament (1);	0.168584	0.27749	U	0.018016	D	0.83830	0.5339	M	0.72894	2.215	0.40384	D	0.97947	D	0.55605	0.972	D	0.64877	0.93	D	0.85501	0.1191	9	.	.	.	.	16.1279	0.81406	0.0:0.0:1.0:0.0	.	365	P78385	KRT83_HUMAN	D	365	ENSP00000293670:A365D	.	A	-	2	0	KRT83	50996112	1.000000	0.71417	0.702000	0.30337	0.425000	0.31504	7.806000	0.86020	1.867000	0.54127	0.563000	0.77884	GCC		0.597	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		6	47	1	0	0.217242	0.217242	0.235731	6	47				
CEP72	55722	broad.mit.edu	37	5	648008	648008	+	Silent	SNP	G	G	A	rs142569661		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr5:648008G>A	ENST00000264935.5	+	11	1845	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	585					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.T585T(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGGAGCTCACGCAGATGCTGC	0.602																																						ENST00000264935.5																			1	Substitution - coding silent(1)	p.T585T(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1753-1755)acG>acA		centrosomal protein 72kDa		G		0,4404		0,0,2202	50.0	47.0	48.0		1755	-9.1	0.2	5	dbSNP_134	48	1,8581	1.2+/-3.3	0,1,4290	no	coding-synonymous	CEP72	NM_018140.3		0,1,6492	AA,AG,GG		0.0117,0.0,0.0077		585/648	648008	1,12985	2202	4291	6493	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:648008G>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1755G>A	5.37:g.648008G>A						CEP72_ENST00000444221.1_3'UTR	p.T585T	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		11	1845	+			585					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1755G>A	CCDS34126.1																																																																																				0.602	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		5	39	0	0	0	0.184627	0	5	39				
CHD4	1108	broad.mit.edu	37	12	6696651	6696651	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr12:6696651G>A	ENST00000357008.2	-	25	3941	c.3778C>T	c.(3778-3780)Cgt>Tgt	p.R1260C	CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.R1253C|CHD4_ENST00000544484.1_Missense_Mutation_p.R1257C|CHD4_ENST00000309577.6_Missense_Mutation_p.R1260C	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1260					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1260C(3)		central_nervous_system(2)	2						TCCTGGTTACGGTCTAGCAGC	0.458																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Substitution - Missense(3)	p.R1260C(3)	prostate(3)	central_nervous_system(2)	2						c.(3778-3780)Cgt>Tgt		chromodomain helicase DNA binding protein 4							218.0	185.0	196.0					12																	6696651		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6696651G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3778C>T	12.37:g.6696651G>A	ENSP00000349508:p.Arg1260Cys					CHD4_ENST00000544040.1_Missense_Mutation_p.R1253C|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544484.1_Missense_Mutation_p.R1257C|CHD4_ENST00000357008.2_Missense_Mutation_p.R1260C	p.R1260C			Q14839	CHD4_HUMAN			25	3941	-			1260					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.3778C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.455446	0.63401	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.92858	-3.03;-3.12;-3.03;-3.11	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.97461	0.9169	H	0.94462	3.54	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	P;P;D	0.83275	0.885;0.726;0.996	D	0.97965	1.0340	10	0.87932	D	0	-5.2414	20.0212	0.97504	0.0:0.0:1.0:0.0	.	1260;1260;1253	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	C	1257;1253;1260;1260;1234	ENSP00000440392:R1257C;ENSP00000440542:R1253C;ENSP00000312419:R1260C;ENSP00000349508:R1260C	ENSP00000312419:R1260C	R	-	1	0	CHD4	6566912	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.951000	0.70273	2.735000	0.93741	0.561000	0.74099	CGT		0.458	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		22	150	0	0	0	0.639603	0	22	150				
NBPF1	55672	broad.mit.edu	37	1	16907266	16907266	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr1:16907266C>T	ENST00000430580.2	-	16	2452	c.1565G>A	c.(1564-1566)tGt>tAt	p.C522Y	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	522	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGCATCCTGACATTCATCATG	0.443																																						ENST00000430580.2																			0											c.(1564-1566)tGt>tAt		neuroblastoma breakpoint family, member 1							831.0	849.0	843.0					1																	16907266		2202	4298	6500	SO:0001583	missense	55672					cytoplasm		g.chr1:16907266C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1565G>A	1.37:g.16907266C>T	ENSP00000474456:p.Cys522Tyr						p.C522Y	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	16	2452	-			522			NBPF 2.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.1565G>A																																																																																					0.443	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		33	1709	0	0	0	0.435327	0	33	1709				
USH1G	124590	broad.mit.edu	37	17	72915904	72915904	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr17:72915904G>A	ENST00000319642.1	-	2	1209	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	343					equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)	p.R343W(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCCGACCCCGCGGCGCTCCC	0.687																																						ENST00000319642.1																		HN1/USH1G(2)	1	Substitution - Missense(1)	p.R343W(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14						c.(1027-1029)Cgg>Tgg		Usher syndrome 1G (autosomal recessive)							37.0	46.0	43.0					17																	72915904		2201	4293	6494	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915904G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1027C>T	17.37:g.72915904G>A	ENSP00000320076:p.Arg343Trp						p.R343W	NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN			2	1209	-	all_lung(278;0.172)|Lung NSC(278;0.207)		343					Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.1027C>T	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424552	0.43020	.	.	ENSG00000182040	ENST00000319642	T	0.71341	-0.56	4.34	3.36	0.38483	.	0.353403	0.29900	N	0.010915	T	0.64929	0.2643	L	0.32530	0.975	0.45194	D	0.998209	D	0.69078	0.997	P	0.47299	0.543	T	0.69468	-0.5137	10	0.72032	D	0.01	-21.4193	13.7601	0.62961	0.0:0.0:0.8452:0.1548	.	343	Q495M9	USH1G_HUMAN	W	343	ENSP00000320076:R343W	ENSP00000320076:R343W	R	-	1	2	USH1G	70427499	1.000000	0.71417	0.930000	0.37139	0.300000	0.27592	4.464000	0.60134	1.061000	0.40601	-0.276000	0.10085	CGG		0.687	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		4	84	0	0	0	0.184627	0	4	84				
MSH3	4437	broad.mit.edu	37	5	79952234	79952234	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr5:79952234C>A	ENST00000265081.6	+	2	322	c.242C>A	c.(241-243)aCa>aAa	p.T81K	DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000439211.2_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000505337.1_5'Flank|DHFR_ENST00000511032.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	81	Interaction with EXO1.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)	p.T81K(1)|p.T72K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATATAGGCTACAGAAATTGAC	0.388								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			2	Substitution - Missense(2)	p.T81K(1)|p.T72K(1)	prostate(2)	NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(241-243)aCa>aAa	Mismatch excision repair (MMR)	mutS homolog 3							123.0	129.0	127.0					5																	79952234		2203	4300	6503	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79952234C>A	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.242C>A	5.37:g.79952234C>A	ENSP00000265081:p.Thr81Lys						p.T81K	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	2	322	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	81			Interaction with EXO1.		A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.242C>A	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	C	6.044	0.376486	0.11466	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.86497	-2.13	4.83	3.96	0.45880	.	1.366250	0.04763	N	0.426604	D	0.83073	0.5175	L	0.40543	1.245	0.09310	N	1	B	0.19817	0.039	B	0.16722	0.016	T	0.65944	-0.6045	9	.	.	.	0.0722	9.5204	0.39131	0.0:0.9004:0.0:0.0996	.	81	P20585	MSH3_HUMAN	K	81;72	ENSP00000265081:T81K	.	T	+	2	0	MSH3	79987990	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	1.251000	0.32862	1.153000	0.42468	0.563000	0.77884	ACA		0.388	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		10	140	1	0	1.08611e-07	0.387290	1.35101e-07	10	140				
ANAPC5	51433	broad.mit.edu	37	12	121746472	121746472	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr12:121746472G>T	ENST00000261819.3	-	17	2200	c.2079C>A	c.(2077-2079)aaC>aaA	p.N693K	ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	693					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.N693K(2)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTCATTGAGGTTCTCGATGG	0.453																																						ENST00000261819.3																			2	Substitution - Missense(2)	p.N693K(2)	prostate(2)	breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31						c.(2077-2079)aaC>aaA		anaphase promoting complex subunit 5							117.0	102.0	108.0					12																	121746472		2203	4300	6503	SO:0001583	missense	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121746472G>T	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.2079C>A	12.37:g.121746472G>T	ENSP00000261819:p.Asn693Lys					ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K|ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K	p.N693K	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN			17	2200	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		693					E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	ENST00000261819.3	37	c.2079C>A	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390882	0.42410	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.74	3.88	0.44766	Tetratricopeptide-like helical (1);	0.156175	0.56097	D	0.000035	T	0.61085	0.2319	L	0.44542	1.39	0.80722	D	1	P;B;B	0.38370	0.628;0.118;0.255	B;B;B	0.34489	0.184;0.037;0.053	T	0.56986	-0.7888	10	0.40728	T	0.16	.	6.5596	0.22479	0.1613:0.0:0.6909:0.1478	.	359;581;693	F5H0N1;E9PFB2;Q9UJX4	.;.;APC5_HUMAN	K	581;680;693;359;295;581	ENSP00000415061:N581K;ENSP00000439875:N680K;ENSP00000261819:N693K;ENSP00000438754:N359K;ENSP00000343787:N581K	ENSP00000261819:N693K	N	-	3	2	ANAPC5	120230855	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.928000	0.28831	0.741000	0.32674	0.563000	0.77884	AAC		0.453	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			7	103	1	0	1.12685e-05	0.307466	1.3365e-05	7	103				
LPIN1	23175	broad.mit.edu	37	2	11943067	11943067	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr2:11943067C>T	ENST00000256720.2	+	14	1906	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C	LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	605					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.R605C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGATGAGGAGCGCGCAGCTGC	0.498																																						ENST00000256720.2																			1	Substitution - Missense(1)	p.R605C(1)	prostate(1)	autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1813-1815)Cgc>Tgc		lipin 1							180.0	163.0	169.0					2																	11943067		2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11943067C>T	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1813C>T	2.37:g.11943067C>T	ENSP00000256720:p.Arg605Cys					LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C|LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C	p.R605C	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	14	1906	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		605					A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.1813C>T	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723847	0.48728	.	.	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.80909	-1.43;-1.42;-1.42;-1.42;-1.27;-0.42;0.5	4.69	3.75	0.43078	.	0.426017	0.27673	N	0.018326	T	0.73393	0.3581	N	0.19112	0.55	0.35483	D	0.798341	B;P;P	0.49559	0.41;0.925;0.84	B;P;B	0.46758	0.039;0.526;0.039	T	0.82244	-0.0553	10	0.56958	D	0.05	-21.0422	15.3509	0.74384	0.0:0.8602:0.1398:0.0	.	106;690;605	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	C	690;647;611;605;335;106;132	ENSP00000397908:R690C;ENSP00000379406:R647C;ENSP00000401522:R611C;ENSP00000256720:R605C;ENSP00000379404:R335C;ENSP00000386120:R106C;ENSP00000413714:R132C	ENSP00000256720:R605C	R	+	1	0	LPIN1	11860518	0.995000	0.38212	0.938000	0.37757	0.331000	0.28603	3.478000	0.53158	2.310000	0.77875	0.561000	0.74099	CGC		0.498	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693		19	172	0	0	0	0.539581	0	19	172				
LHX3	8022	broad.mit.edu	37	9	139091593	139091593	+	Missense_Mutation	SNP	C	C	A	rs142521088		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr9:139091593C>A	ENST00000371748.5	-	3	481	c.385G>T	c.(385-387)Gac>Tac	p.D129Y	LHX3_ENST00000371746.3_Missense_Mutation_p.D134Y	NM_178138.4	NP_835258.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	129	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				inner ear development (GO:0048839)|lung development (GO:0030324)|medial motor column neuron differentiation (GO:0021526)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|placenta development (GO:0001890)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron cell fate specification (GO:0021520)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D134Y(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TAGAACTCGTCGCCCGTGGCC	0.672																																						ENST00000371746.3																			1	Substitution - Missense(1)	p.D134Y(1)	prostate(1)	large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(400-402)Gac>Tac		LIM homeobox 3							30.0	29.0	30.0					9																	139091593		2198	4300	6498	SO:0001583	missense	8022				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:139091593C>A	AF096169	CCDS6994.1, CCDS6995.1	9q34.3	2011-06-20			ENSG00000107187	ENSG00000107187		"""Homeoboxes / LIM class"""	6595	protein-coding gene	gene with protein product		600577				10598593, 10717474	Standard	NM_178138		Approved		uc004cgz.3	Q9UBR4	OTTHUMG00000020924	ENST00000371748.5:c.385G>T	9.37:g.139091593C>A	ENSP00000360813:p.Asp129Tyr					LHX3_ENST00000371748.5_Missense_Mutation_p.D129Y	p.D134Y	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)	3	518	-		Myeloproliferative disorder(178;0.0511)	129			LIM zinc-binding 2.		Q5TB39|Q5TB40|Q9NZB5|Q9P0I8|Q9P0I9	Missense_Mutation	SNP	ENST00000371748.5	37	c.400G>T	CCDS6994.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647555	0.87958	.	.	ENSG00000107187	ENST00000371748;ENST00000371746;ENST00000325195	D;D	0.87650	-2.28;-2.28	4.35	4.35	0.52113	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.95868	0.8655	H	0.97415	4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.97549	1.0091	10	0.87932	D	0	.	16.0484	0.80735	0.0:1.0:0.0:0.0	.	129;134	Q9UBR4;F1T0D9	LHX3_HUMAN;.	Y	129;134;132	ENSP00000360813:D129Y;ENSP00000360811:D134Y	ENSP00000319224:D132Y	D	-	1	0	LHX3	138231414	1.000000	0.71417	0.956000	0.39512	0.806000	0.45545	7.314000	0.78988	2.256000	0.74724	0.561000	0.74099	GAC		0.672	LHX3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055048.3			9	38	1	0	1.12685e-05	0.307466	1.3365e-05	9	38				
KRTAP5-4	387267	broad.mit.edu	37	11	1642884	1642884	+	Missense_Mutation	SNP	A	A	C	rs6578597	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr11:1642884A>C	ENST00000399682.1	-	1	484	c.440T>G	c.(439-441)tTc>tGc	p.F147C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.F147C(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCTGAAGAGAAGCAGCAGGG	0.632													N|||	3375	0.673922	0.7806	0.6138	5008	,	,		12630	0.5139		0.7087	False		,,,				2504	0.7014					ENST00000399682.1																			1	Substitution - Missense(1)	p.F147C(1)	prostate(1)	NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20						c.(439-441)tTc>tGc		keratin associated protein 5-4							20.0	33.0	29.0					11																	1642884		692	1590	2282	SO:0001583	missense	387267					keratin filament		g.chr11:1642884A>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.440T>G	11.37:g.1642884A>C	ENSP00000382590:p.Phe147Cys						p.F147C	NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	484	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	207			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.440T>G		1439	0.6588827838827839	369	0.75	239	0.6602209944751382	301	0.5262237762237763	530	0.6992084432717678	C	3.154	-0.173521	0.06421	.	.	ENSG00000241598	ENST00000399682;ENST00000328953	T	0.00711	5.8	0.989	-1.98	0.07480	.	.	.	.	.	T	0.00012	0.0000	N	0.00009	-3.08	0.80722	P	0.0	.	.	.	.	.	.	T	0.46359	-0.9197	6	0.51188	T	0.08	.	0.8358	0.01140	0.1953:0.3766:0.1947:0.2334	rs6578597;rs58936235;rs6578597	.	.	.	C	147	ENSP00000382590:F147C	ENSP00000331603:F147C	F	-	2	0	KRTAP5-4	1599460	0.316000	0.24580	0.000000	0.03702	0.005000	0.04900	-0.265000	0.08644	-1.749000	0.01330	-0.349000	0.07799	TTC		0.632	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		7	170	0	0	0	0.278610	0	7	170				
MUC3A	4584	broad.mit.edu	37	7	100552898	100552898	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr7:100552898delG	ENST00000319509.7	+	2	1543	c.1543delG	c.(1543-1545)ggcfs	p.G515fs				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2180	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGACAATGGTGGCACCTGGGA	0.567																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1543-1545)gcfs		mucin 3A, cell surface associated							175.0	163.0	167.0					7																	100552898		876	1991	2867	SO:0001589	frameshift_variant	4584							g.chr7:100552898delG	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1543delG	7.37:g.100552898delG	ENSP00000324834:p.Gly515fs						p.G515fs							2	1543	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Frame_Shift_Del	DEL	ENST00000319509.7	37	c.1543delG																																																																																					0.567	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		9	157						9	157	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85701839	85701840	+	Frame_Shift_Ins	INS	-	-	T	rs200204743		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr16:85701839_85701840insT	ENST00000253458.7	+	14	3400_3401	c.3224_3225insT	c.(3223-3228)cctccafs	p.P1076fs	GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P972fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1003fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1076																	AGCCGCGCCCCTCCACCCCAGC	0.639																																						ENST00000253458.7																			0											c.(3223-3225)cccfs		Gse1 coiled-coil protein																																				SO:0001589	frameshift_variant	23199							g.chr16:85701839_85701840insT	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3225dupT	16.37:g.85701840_85701840dupT	ENSP00000253458:p.Pro1076fs					GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P971fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1002fs	p.P1075fs	NM_014615.2	NP_055430.1					14	3400_3401	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Ins	INS	ENST00000253458.7	37	c.3224_3225insT	CCDS10952.1																																																																																				0.639	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		14	123						14	123	---	---	---	---
KRT17P4	339186	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-	rs374561720	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:16748911_16748913delGCT	ENST00000578037.1	-	0	593				KRT17P1_ENST00000580363.1_RNA																							CGCCCTCAAAGCTGCTGCTGCCA	0.65														2545	0.508187	0.5053	0.536	5008	,	,		12311	0.4067		0.5686	False		,,,				2504	0.5348					ENST00000580363.1																			0				lung(4)	4																																														0							g.chr17:16748911_16748913delGCT																													17.37:g.16748917_16748919delGCT														0	282_284	-									RNA	DEL	ENST00000578037.1	37																																																																																						0.650	AC022596.2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444295.1			3	4						3	4	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	0							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			4	2						4	2	---	---	---	---
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-	rs575852588	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctcctgccgctg>ctg	p.23_26LLPL>L	TMEM52_ENST00000378602.3_5'Flank	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766														1798	0.359026	0.0673	0.5072	5008	,	,		10019	0.4792		0.4891	False		,,,				2504	0.3906					ENST00000310991.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(67-78)ctg>ct		transmembrane protein 52				61,649		27,7,321						0.9	1.0			2	719,1347		316,87,630	no	coding	TMEM52	NM_178545.3		343,94,951	A1A1,A1R,RR		34.8015,8.5915,28.098				780,1996				SO:0001651	inframe_deletion	339456					integral to membrane		g.chr1:1850628_1850636delAGCGGCAGG	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.69_77delCCTGCCGCT	1.37:g.1850637_1850645delAGCGGCAGG	ENSP00000311122:p.Leu23_Pro25del						p.LLPL23del	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	76_84	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	23					Q4VXS6|Q6UX25	In_Frame_Del	DEL	ENST00000310991.3	37	c.69_77delCCTGCCGCT	CCDS35.1																																																																																				0.766	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		3	5						3	5	---	---	---	---
CTBS	1486	broad.mit.edu	37	1	85040025	85040033	+	In_Frame_Del	DEL	AGCAGCGCT	AGCAGCGCT	-	rs201734152	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr1:85040025_85040033delAGCAGCGCT	ENST00000370630.5	-	1	114_122	c.66_74delAGCGCTGCT	c.(64-75)ctagcgctgctg>ctg	p.22_25LALL>L	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-	22					chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	chitinase activity (GO:0004568)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		cagcagcgccagcagcgcTAGACCCGGGA	0.718																																						ENST00000370630.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(64-75)ctg>ct		chitobiase, di-N-acetyl-				474,2688		69,336,1176							0.0		dbSNP_106	4	941,5573		128,685,2444	no	coding	CTBS	NM_004388.2		197,1021,3620	A1A1,A1R,RR		14.4458,14.9905,14.6238				1415,8261				SO:0001651	inframe_deletion	1486					lysosome	cation binding	g.chr1:85040025_85040033delAGCAGCGCT	M95767	CCDS698.1	1p22	2010-05-04			ENSG00000117151	ENSG00000117151	3.2.1.-		2496	protein-coding gene	gene with protein product		600873		CTB		1549114, 7606925	Standard	NM_004388		Approved		uc001dka.2	Q01459	OTTHUMG00000009922	ENST00000370630.5:c.66_74delAGCGCTGCT	1.37:g.85040025_85040033delAGCAGCGCT	ENSP00000359664:p.Leu31_Leu33del					CTBS_ENST00000477677.1_5'UTR	p.LALL22del	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN		all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)	1	114_122	-			22					Q5VX50	In_Frame_Del	DEL	ENST00000370630.5	37	c.66_74delAGCGCTGCT	CCDS698.1																																																																																				0.718	CTBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027457.2	NM_004388		6	4						6	4	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs112774151|rs63118461		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tcc>tcATCc	p.2026_2026S>SS	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2026S>SS	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579																																						ENST00000463781.3																			3	Insertion - In frame(3)	p.S2026_T2027insS(3)	large_intestine(2)|breast(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6076-6078)tac>tATCac		mucin 4, cell surface associated			,,	1110,2296		177,756,770					,,		0.0		dbSNP_130	24	1888,5346		82,1724,1811	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	259,2480,2581	A1A1,A1R,RR		26.099,32.5895,28.1767	,,	,,		2998,7642				SO:0001652	inframe_insertion	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512373_195512374insGAT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6075_6077dupATC	3.37:g.195512374_195512376dupGAT	ENSP00000417498:p.Ser2026dup					MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.2026_2027insH	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6536_6537	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	798					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Ins	INS	ENST00000463781.3	37	c.6077_6078insATC	CCDS54700.1																																																																																				0.579	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	4						2	4	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100552898	100552898	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr7:100552898delG	ENST00000319509.7	+	2	1543	c.1543delG	c.(1543-1545)ggcfs	p.G515fs				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2180	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGACAATGGTGGCACCTGGGA	0.567																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1543-1545)gcfs		mucin 3A, cell surface associated							175.0	163.0	167.0					7																	100552898		876	1991	2867	SO:0001589	frameshift_variant	4584							g.chr7:100552898delG	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1543delG	7.37:g.100552898delG	ENSP00000324834:p.Gly515fs						p.G515fs							2	1543	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Frame_Shift_Del	DEL	ENST00000319509.7	37	c.1543delG																																																																																					0.567	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		9	157						9	157	---	---	---	---
RP11-360K13.1	0	broad.mit.edu	37	11	96514999	96514999	+	lincRNA	DEL	A	A	-	rs67317023|rs149392521		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr11:96514999delA	ENST00000527528.1	+	0	158																											CTTAGTTATTaaaaaaaaaaa	0.368																																						ENST00000527528.1																			0																																																			0							g.chr11:96514999delA																													11.37:g.96514999delA														0	158	+									RNA	DEL	ENST00000527528.1	37																																																																																						0.368	RP11-360K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000395474.1			4	6						4	6	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85701839	85701840	+	Frame_Shift_Ins	INS	-	-	T	rs200204743		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr16:85701839_85701840insT	ENST00000253458.7	+	14	3400_3401	c.3224_3225insT	c.(3223-3228)cctccafs	p.P1076fs	GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P972fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1003fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1076																	AGCCGCGCCCCTCCACCCCAGC	0.639																																						ENST00000253458.7																			0											c.(3223-3225)cccfs		Gse1 coiled-coil protein																																				SO:0001589	frameshift_variant	23199							g.chr16:85701839_85701840insT	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3225dupT	16.37:g.85701840_85701840dupT	ENSP00000253458:p.Pro1076fs					GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P1002fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P971fs	p.P1075fs	NM_014615.2	NP_055430.1					14	3400_3401	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Ins	INS	ENST00000253458.7	37	c.3224_3225insT	CCDS10952.1																																																																																				0.639	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		14	123						14	123	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684390	26684391	+	5'Flank	INS	-	-	C	rs11448856|rs67934205		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr17:26684390_26684391insC	ENST00000292114.3	+	0	0				CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'Flank|TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|POLDIP2_ENST00000540200.1_Frame_Shift_Ins_p.P28fs	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCACAGAGCGGCTTTGCCACCG	0.762													?|C|CC|unsure	5008	1.0	1.0	1.0	5008	,	,		11683	1.0		1.0	False		,,,				2504	1.0					ENST00000540200.1																			0											c.(79-84)aacgctfs		polymerase (DNA-directed), delta interacting protein 2				2752,40		1369,14,13						3.8	0.1		dbSNP_130	4	6434,100		3190,54,23	no	frameshift	POLDIP2	NM_015584.3		4559,68,36	A1A1,A1R,RR		1.5305,1.4327,1.5012				9186,140				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684390_26684391insC	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684391_26684391dupC	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR	p.NA27fs	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	80_81	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		28						Frame_Shift_Ins	INS	ENST00000292114.3	37	c.81_82insG	CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		4	6						4	6	---	---	---	---
